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Protein Ontology report - TGF-beta superfamily receptor type-1
PR:000000006 - http://purl.obolibrary.org/obo/PR_000000006
 
  Protein Forms  Complex  Annotations      
Ontology Information Show OBO stanza / PAF
  PRO ID
PR:000000006   
  PRO nameTGF-beta superfamily receptor type-1 
  Synonyms
Other: TbetaR-I (BROAD) | TGF-beta receptor type I (BROAD) | TGF-beta type I receptor (BROAD) | TGFR-1 (BROAD) | transforming growth factor-beta receptor type I (BROAD)
  Definition"A protein that is a translation product of an evolutionary-related gene with core domain composition consisting of an extracellular Activin types I and II receptor domain (Pfam:PF01064), a transmembrane domain, a Transforming growth factor beta type I GS-motif (Pfam:PF08515) and a Protein kinase domain (Pfam:PF00069). The transforming growth factor-beta (TGF-beta) superfamily of receptors comprises two groups of transmembrane serine-threonine kinase receptors, so called type-1, and type-2 receptors, that are activated following engagement by members of the TGF-beta superfamily of ligands. These events specify diverse downstream responses that are differentially regulated by controlling access and activation of the ligands, their receptors and downstream substrates in different cell types. The type 1 receptors are characterized by the presence of a glycine-serine rich juxta-membrane domain (the GS-motif) that is critical for their activation." [PRO:CNA] 
  PRO Categoryfamily 
  ParentPR:000000001 protein
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Family1                                                  Organism-Family 0                                        
         Gene7                                                  Organism-Gene 24                                        
         Sequence12                                                  Organism-Sequence 93                                        
         Modification19                                                  Organism-Modification 36                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
PIRSF:PIRSF037391
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
family


PR:000000006 TGF-beta superfamily receptor type-1
TGFBR2
Yes
gene


PR:000000035 BMP receptor type-1A
BMPR1A

organism-gene


PR:P36894 bone morphogenetic protein receptor type-1A (human)
hBMPR1A

organism-sequence


PR:000000137 BMP receptor type-1A sequence variant Y62D (human)
hBMPR1A/var:Y62D
Yes
organism-sequence


PR:000000138 BMP receptor type-1A sequence variant C82Y (human)
hBMPR1A/var:C82Y
Yes
organism-sequence


PR:000000139 BMP receptor type-1A sequence variant C124R (human)
hBMPR1A/var:C124R
Yes
organism-sequence


PR:000000140 BMP receptor type-1A sequence variant C130R (human)
hBMPR1A/var:C130R
Yes
organism-sequence


PR:000000141 BMP receptor type-1A sequence variant A338D (human)
hBMPR1A/var:A338D
Yes
organism-sequence


PR:000000142 BMP receptor type-1A sequence variant C376Y (human)
hBMPR1A/var:C376Y
Yes
organism-sequence


PR:000000143 BMP receptor type-1A sequence variant R443C (human)
hBMPR1A/var:R443C
Yes
organism-sequence


PR:000000144 BMP receptor type-1A sequence variant M470T (human)
hBMPR1A/var:M470T
Yes
organism-sequence


PR:P36894-1 bone morphogenetic protein receptor type-1A isoform 1 (human)
hBMPR1A/iso:1
Yes
organism-modification


PR:000036422 BMP receptor type-1A isoform 1 phosphorylated 1 (human)
hBMPR1A/iso:1/Phos:1
Yes
organism-modification


PR:000036424 BMP receptor type-1A isoform 1 phosphorylated 2 (human)
hBMPR1A/iso:1/Phos:2

organism-modification


PR:000046493 bone morphogenetic protein receptor type-1A, signal peptide removed form (human)
hBMPR1A/SigPep-

organism-modification


PR:000046494 bone morphogenetic protein receptor type-1A, signal peptide removed phosphorylated 2 (human)
hBMPR1A/SigPep-/Phos:2

organism-gene


PR:P36895 bone morphogenetic protein receptor type-1A (mouse)
mBMPR1A

organism-sequence


PR:P36895-1 bone morphogenetic protein receptor type-1A isoform 1 (mouse)
mBMPR1A/iso:1
Yes
organism-modification


PR:000036423 BMP receptor type-1A isoform 1 phosphorylated 1 (mouse)
mBMPR1A/iso:1/Phos:1
Yes
organism-gene


PR:Q78EA7 bone morphogenetic protein receptor type-1A (rat)
rBMPR1A

sequence


PR:000000136 BMP receptor type-1A isoform 1
BMPR1A/iso:1

organism-sequence


PR:P36894-1 bone morphogenetic protein receptor type-1A isoform 1 (human)
hBMPR1A/iso:1
Yes
organism-modification


PR:000036422 BMP receptor type-1A isoform 1 phosphorylated 1 (human)
hBMPR1A/iso:1/Phos:1
Yes
organism-modification


PR:000036424 BMP receptor type-1A isoform 1 phosphorylated 2 (human)
hBMPR1A/iso:1/Phos:2

organism-sequence


PR:P36895-1 bone morphogenetic protein receptor type-1A isoform 1 (mouse)
mBMPR1A/iso:1
Yes
organism-modification


PR:000036423 BMP receptor type-1A isoform 1 phosphorylated 1 (mouse)
mBMPR1A/iso:1/Phos:1
Yes
modification


PR:000000382 BMP receptor type-1A isoform 1 phosphorylated form
BMPR1A/iso:1/PhosRes+

modification


PR:000000498 BMP receptor type-1A isoform 1 phosphorylated 1
BMPR1A/iso:1/Phos:1

organism-modification


PR:000036422 BMP receptor type-1A isoform 1 phosphorylated 1 (human)
hBMPR1A/iso:1/Phos:1
Yes
organism-modification


PR:000036423 BMP receptor type-1A isoform 1 phosphorylated 1 (mouse)
mBMPR1A/iso:1/Phos:1
Yes
modification


PR:000000499 BMP receptor type-1A isoform 1 phosphorylated 2
BMPR1A/iso:1/Phos:2

organism-modification


PR:000036424 BMP receptor type-1A isoform 1 phosphorylated 2 (human)
hBMPR1A/iso:1/Phos:2

gene


PR:000000036 BMP receptor type-1B
BMPR1B

organism-gene


PR:O00238 bone morphogenetic protein receptor type-1B (human)
hBMPR1B

organism-sequence


PR:000000146 BMP receptor type-1B sequence variant I200K (human)
hBMPR1B/var:I200K
Yes
organism-sequence


PR:000000147 BMP receptor type-1B sequence variant R486W (human)
hBMPR1B/var:R486W
Yes
organism-sequence


PR:O00238-1 bone morphogenetic protein receptor type-1B isoform 1 (human)
hBMPR1B/iso:1
Yes
organism-modification


PR:000036426 BMP receptor type-1B isoform 1 phosphorylated 1 (human)
hBMPR1B/iso:1/Phos:1
Yes
organism-sequence


PR:O00238-2 bone morphogenetic protein receptor type-1B isoform h2 (human)
hBMPR1B/iso:h2

organism-modification


PR:000046495 bone morphogenetic protein receptor type-1B, signal peptide removed form (human)
hBMPR1B/SigPep-

organism-modification


PR:000046496 bone morphogenetic protein receptor type-1B, signal peptide removed phosphoserine(4+) form (human)
hBMPR1B/SigPep-/PhosSer(4+)

organism-gene


PR:P36898 bone morphogenetic protein receptor type-1B (mouse)
mBMPR1B

organism-sequence


PR:P36898-1 bone morphogenetic protein receptor type-1B isoform 1 (mouse)
mBMPR1B/iso:1
Yes
organism-modification


PR:000036425 BMP receptor type-1B isoform 1 phosphorylated 1 (mouse)
mBMPR1B/iso:1/Phos:1
Yes
organism-gene


PR:Q05438 bone morphogenetic protein receptor type-1B (chicken)
chick-BMPR1B

organism-gene


PR:Q09488 serine/threonine-protein kinase receptor sma-6 (worm)
BMPR1B (worm)

organism-gene


PR:Q569A5 receptor protein serine/threonine kinase (rat)
rBMPR1B

sequence


PR:000000145 BMP receptor type-1B isoform 1
BMPR1B/iso:1

organism-sequence


PR:O00238-1 bone morphogenetic protein receptor type-1B isoform 1 (human)
hBMPR1B/iso:1
Yes
organism-modification


PR:000036426 BMP receptor type-1B isoform 1 phosphorylated 1 (human)
hBMPR1B/iso:1/Phos:1
Yes
organism-sequence


PR:P36898-1 bone morphogenetic protein receptor type-1B isoform 1 (mouse)
mBMPR1B/iso:1
Yes
organism-modification


PR:000036425 BMP receptor type-1B isoform 1 phosphorylated 1 (mouse)
mBMPR1B/iso:1/Phos:1
Yes
modification


PR:000000383 BMP receptor type-1B isoform 1 phosphorylated form
BMPR1B/iso:1/PhosRes+

modification


PR:000000500 BMP receptor type-1B isoform 1 phosphorylated 1
BMPR1B/iso:1/Phos:1

organism-modification


PR:000036425 BMP receptor type-1B isoform 1 phosphorylated 1 (mouse)
mBMPR1B/iso:1/Phos:1
Yes
organism-modification


PR:000036426 BMP receptor type-1B isoform 1 phosphorylated 1 (human)
hBMPR1B/iso:1/Phos:1
Yes
gene


PR:000000047 TGF-beta receptor type-1
TGFBR1

organism-gene


PR:P36897 TGF-beta receptor type-1 (human)
hTGFBR1

organism-sequence


PR:000000186 TGF-beta receptor type-1 sequence variant T200I (human)
hTGFBR1/var:T200I
Yes
organism-sequence


PR:000000187 TGF-beta receptor type-1 sequence variant 10 (human)
hTGFBR1/var:10
Yes
organism-sequence


PR:000000188 TGF-beta receptor type-1 sequence variant 11 (human)
hTGFBR1/var:11
Yes
organism-sequence


PR:000000189 TGF-beta receptor type-1 sequence variant K232E (human)
hTGFBR1/var:K232E
Yes
organism-sequence


PR:000000190 TGF-beta receptor type-1 sequence variant S241L (human)
hTGFBR1/var:S241L
Yes
organism-sequence


PR:000000191 TGF-beta receptor type-1 sequence variant N267H (human)
hTGFBR1/var:N267H
Yes
organism-sequence


PR:000000192 TGF-beta receptor type-1 sequence variant M318R (human)
hTGFBR1/var:M318R
Yes
organism-sequence


PR:000000193 TGF-beta receptor type-1 sequence variant D400G (human)
hTGFBR1/var:D400G
Yes
organism-sequence


PR:000000194 TGF-beta receptor type-1 sequence variant R487P (human)
hTGFBR1/var:R487P
Yes
organism-sequence


PR:000000195 TGF-beta receptor type-1 sequence variant R487E (human)
hTGFBR1/var:R487E
Yes
organism-sequence


PR:000000196 TGF-beta receptor type-1 sequence variant R487W (human)
hTGFBR1/var:R487W
Yes
organism-sequence


PR:P36897-1 TGF-beta receptor type-1 isoform 1 (human)
hTGFBR1/iso:1
Yes
organism-modification


PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human)
hTGFBR1/iso:1/SigPep-
Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-sequence


PR:P36897-2 TGF-beta receptor type-1 isoform h2 (human)
hTGFBR1/iso:h2

organism-sequence


PR:P36897-3 TGF-beta receptor type-1 isoform h3 (human)
hTGFBR1/iso:h3

organism-modification


PR:000049432 TGF-beta receptor type-1, signal peptide removed form (human)
hTGFBR1/SigPep-

organism-modification


PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human)
hTGFBR1/iso:1/SigPep-
Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification


PR:000049433 TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human)
hTGFBR1/SigPep-/UbiqLys+

organism-modification


PR:000060809 TGF-beta receptor type-1 sequence variant G52R, signal peptide removed form (human)
hTGFBR1/var:G52R/SigPep-

organism-modification


PR:000060890 TGF-beta receptor type-1 sequence variant R414*, signal peptide removed phosphorylated 1 (human)
hTGFBR1/var:R414*/SigPep-/Phos:1

organism-modification


PR:000061254 TGF-beta receptor type-1 sequence variant P83L, signal peptide removed form (human)
hTGFBR1/var:P83L/SigPep-

organism-modification


PR:000061891 TGF-beta receptor type-1 sequence variant P83S, signal peptide removed form (human)
hTGFBR1/var:P83S/SigPep-

organism-modification


PR:000063489 TGF-beta receptor type-1 sequence variant C41Y, signal peptide removed form (human)
hTGFBR1/var:C41Y/SigPep-

organism-modification


PR:000063569 TGF-beta receptor type-1 sequence variant N45S, signal peptide removed form (human)
hTGFBR1/var:N45S/SigPep-

organism-modification


PR:000064307 TGF-beta receptor type-1 sequence variant W242*, signal peptide removed phosphorylated 1 (human)
hTGFBR1/var:W242*/SigPep-/Phos:1

organism-modification


PR:000049433 TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human)
hTGFBR1/SigPep-/UbiqLys+

organism-modification


PR:000067321 TGF-beta receptor type-1 methylated 1 (human)
hTGFBR1/Me:1

organism-modification


PR:000070298 TGF-beta receptor type-1 methylated 2 (human)
hTGFBR1/Me:2

organism-modification


PR:000075184 TGF-beta receptor type-1 cysteinylated 1 (human)
hTGFBR1/Cyst:1

organism-gene


PR:P80204 TGF-beta receptor type-1 (rat)
rTGFBR1

organism-gene


PR:Q64729 TGF-beta receptor type-1 (mouse)
mTGFBR1

organism-sequence


PR:Q64729-1 TGF-beta receptor type-1 isoform 1 (mouse)
mTGFBR1/iso:1

organism-modification


PR:000036434 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mTGFBR1/iso:1/SigPep-/Phos:1
Yes
organism-sequence


PR:Q64729-2 TGF-beta receptor type-1 isoform m2 (mouse)
mTGFBR1/iso:m2

sequence


PR:000000185 TGF-beta receptor type-1 isoform 1
TGFBR1/iso:1

organism-sequence


PR:P36897-1 TGF-beta receptor type-1 isoform 1 (human)
hTGFBR1/iso:1
Yes
organism-modification


PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human)
hTGFBR1/iso:1/SigPep-
Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-sequence


PR:Q64729-1 TGF-beta receptor type-1 isoform 1 (mouse)
mTGFBR1/iso:1

organism-modification


PR:000036434 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mTGFBR1/iso:1/SigPep-/Phos:1
Yes
modification


PR:000000522 TGF-beta receptor type-1 isoform 1, signal peptide removed form
TGFBR1/iso:1/SigPep-

modification


PR:000000408 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated form
TGFBR1/iso:1/SigPep-/PhosRes+

modification


PR:000000523 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1
TGFBR1/iso:1/SigPep-/Phos:1

Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification


PR:000036434 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mTGFBR1/iso:1/SigPep-/Phos:1
Yes
modification


PR:000003173 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form
TGFBR1/iso:1/SigPep-/PhosUbiq+

modification


PR:000003173 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form
TGFBR1/iso:1/SigPep-/PhosUbiq+

organism-modification


PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human)
hTGFBR1/iso:1/SigPep-
Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
modification


PR:000025411 TGF-beta receptor type-1 proteolytic cleavage product
TGFBR1/ClvPrd

modification


PR:000025932 TGF-beta receptor type-1, signal peptide removed form
TGFBR1/SigPep-

modification


PR:000000522 TGF-beta receptor type-1 isoform 1, signal peptide removed form
TGFBR1/iso:1/SigPep-

modification


PR:000000408 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated form
TGFBR1/iso:1/SigPep-/PhosRes+

modification


PR:000000523 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1
TGFBR1/iso:1/SigPep-/Phos:1

Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification


PR:000036434 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mTGFBR1/iso:1/SigPep-/Phos:1
Yes
modification


PR:000003173 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form
TGFBR1/iso:1/SigPep-/PhosUbiq+

modification


PR:000003173 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form
TGFBR1/iso:1/SigPep-/PhosUbiq+

organism-modification


PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human)
hTGFBR1/iso:1/SigPep-
Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification


PR:000049432 TGF-beta receptor type-1, signal peptide removed form (human)
hTGFBR1/SigPep-

organism-modification


PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human)
hTGFBR1/iso:1/SigPep-
Yes
organism-modification


PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification


PR:000049433 TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human)
hTGFBR1/SigPep-/UbiqLys+

organism-modification


PR:000060809 TGF-beta receptor type-1 sequence variant G52R, signal peptide removed form (human)
hTGFBR1/var:G52R/SigPep-

organism-modification


PR:000060890 TGF-beta receptor type-1 sequence variant R414*, signal peptide removed phosphorylated 1 (human)
hTGFBR1/var:R414*/SigPep-/Phos:1

organism-modification


PR:000061254 TGF-beta receptor type-1 sequence variant P83L, signal peptide removed form (human)
hTGFBR1/var:P83L/SigPep-

organism-modification


PR:000061891 TGF-beta receptor type-1 sequence variant P83S, signal peptide removed form (human)
hTGFBR1/var:P83S/SigPep-

organism-modification


PR:000063489 TGF-beta receptor type-1 sequence variant C41Y, signal peptide removed form (human)
hTGFBR1/var:C41Y/SigPep-

organism-modification


PR:000063569 TGF-beta receptor type-1 sequence variant N45S, signal peptide removed form (human)
hTGFBR1/var:N45S/SigPep-

organism-modification


PR:000064307 TGF-beta receptor type-1 sequence variant W242*, signal peptide removed phosphorylated 1 (human)
hTGFBR1/var:W242*/SigPep-/Phos:1

gene


PR:000000067 activin receptor type-1
ACVR1

organism-gene


PR:P37172 activin receptor type-1 (mouse)
mACVR1

organism-sequence


PR:P37172-1 activin receptor type-1 isoform 1 (mouse)
mACVR1/iso:1

organism-modification


PR:000036436 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mACVR1/iso:1/SigPep-/Phos:1
Yes
organism-gene


PR:P80201 activin receptor type-1 (rat)
rACVR1

organism-gene


PR:Q04771 activin receptor type-1 (human)
hACVR1

organism-sequence


PR:000000200 activin receptor type-1 sequence variant R206H (human)
hACVR1/var:R206H
Yes
organism-sequence


PR:Q04771-1 activin receptor type-1 isoform 1 (human)
hACVR1/iso:1

organism-modification


PR:000036435 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hACVR1/iso:1/SigPep-/Phos:1
Yes
organism-modification


PR:000068633 activin receptor type-1 cysteinylated 1 (human)
hACVR1/Cyst:1

organism-gene


PR:Q90ZK6 activin receptor type-1 (chicken)
chick-ACVR1

sequence


PR:000000199 activin receptor type-1 isoform 1
ACVR1/iso:1

organism-sequence


PR:P37172-1 activin receptor type-1 isoform 1 (mouse)
mACVR1/iso:1

organism-modification


PR:000036436 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mACVR1/iso:1/SigPep-/Phos:1
Yes
organism-sequence


PR:Q04771-1 activin receptor type-1 isoform 1 (human)
hACVR1/iso:1

organism-modification


PR:000036435 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hACVR1/iso:1/SigPep-/Phos:1
Yes
modification


PR:000021938 activin receptor type-1 isoform 1, signal peptide removed form
ACVR1/iso:1/SigPep-

modification


PR:000000411 activin receptor type-1 isoform 1, signal peptide removed phosphorylated form
ACVR1/iso:1/SigPep-/PhosRes+

modification


PR:000000524 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1
ACVR1/iso:1/SigPep-/Phos:1

organism-modification


PR:000036435 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human)
hACVR1/iso:1/SigPep-/Phos:1
Yes
organism-modification


PR:000036436 activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse)
mACVR1/iso:1/SigPep-/Phos:1
Yes
gene


PR:000000068 activin receptor type-1B
ACVR1B

organism-gene


PR:P36896 activin receptor type-1B (human)
hACVR1B

organism-sequence


PR:P36896-1 activin receptor type-1B isoform 1 (human)
hACVR1B/iso:1
Yes
organism-modification


PR:000036437 activin receptor type-1B isoform 1 phosphorylated 1 (human)
hACVR1B/iso:1/Phos:1
Yes
organism-modification


PR:000036438 activin receptor type-1B isoform 1 phosphorylated 2 (human)
hACVR1B/iso:1/Phos:2

organism-sequence


PR:P36896-2 activin receptor type-1B isoform 2 (human)
hACVR1B/iso:2
Yes
organism-sequence


PR:P36896-3 activin receptor type-1B isoform 3 (human)
hACVR1B/iso:3
Yes
organism-sequence


PR:P36896-4 activin receptor type-1B isoform h4 (human)
hACVR1B/iso:h4

organism-sequence


PR:P36896-5 activin receptor type-1B isoform h5 (human)
hACVR1B/iso:h5

organism-modification


PR:000046256 activin receptor type-1B, signal peptide removed form (human)
hACVR1B/SigPep-

organism-modification


PR:000046257 activin receptor type-1B, signal peptide removed phosphorylated 3 (human)
hACVR1B/SigPep-/Phos:3

organism-gene


PR:P80202 activin receptor type-1B (rat)
rACVR1B

organism-gene


PR:Q61271 activin receptor type-1B (mouse)
mACVR1B

organism-sequence


PR:Q61271-1 activin receptor type-1B isoform 1 (mouse)
mACVR1B/iso:1

sequence


PR:000000201 activin receptor type-1B isoform 1
ACVR1B/iso:1

organism-sequence


PR:P36896-1 activin receptor type-1B isoform 1 (human)
hACVR1B/iso:1
Yes
organism-modification


PR:000036437 activin receptor type-1B isoform 1 phosphorylated 1 (human)
hACVR1B/iso:1/Phos:1
Yes
organism-modification


PR:000036438 activin receptor type-1B isoform 1 phosphorylated 2 (human)
hACVR1B/iso:1/Phos:2

organism-sequence


PR:Q61271-1 activin receptor type-1B isoform 1 (mouse)
mACVR1B/iso:1

modification


PR:000000412 activin receptor type-1B isoform 1 phosphorylated form
ACVR1B/iso:1/PhosRes+

modification


PR:000000525 activin receptor type-1B isoform 1 phosphorylated 1
ACVR1B/iso:1/Phos:1

organism-modification


PR:000036437 activin receptor type-1B isoform 1 phosphorylated 1 (human)
hACVR1B/iso:1/Phos:1
Yes
modification


PR:000000526 activin receptor type-1B isoform 1 phosphorylated 2
ACVR1B/iso:1/Phos:2

organism-modification


PR:000036438 activin receptor type-1B isoform 1 phosphorylated 2 (human)
hACVR1B/iso:1/Phos:2

sequence


PR:000000202 activin receptor type-1B isoform 2
ACVR1B/iso:2

organism-sequence


PR:P36896-2 activin receptor type-1B isoform 2 (human)
hACVR1B/iso:2
Yes
sequence


PR:000000203 activin receptor type-1B isoform 3
ACVR1B/iso:3

organism-sequence


PR:P36896-3 activin receptor type-1B isoform 3 (human)
hACVR1B/iso:3
Yes
gene


PR:000000069 activin receptor type-1C
ACVR1C

organism-gene


PR:P70539 activin receptor type-1C (rat)
rACVR1C

organism-gene


PR:Q8K348 activin receptor type-1C (mouse)
mACVR1C

organism-sequence


PR:A2AJR5 activin receptor type-1C isoform 3 (mouse)
mACVR1C/iso:3

organism-sequence


PR:A2AJR6 activin receptor type-1C isoform 2 (mouse)
mACVR1C/iso:2

organism-sequence


PR:Q8K348-1 activin receptor type-1C isoform 1 (mouse)
mACVR1C/iso:1

organism-gene


PR:Q8NER5 activin receptor type-1C (human)
hACVR1C

organism-sequence


PR:Q8NER5-1 activin receptor type-1C isoform 1 (human)
hACVR1C/iso:1

organism-modification


PR:000036439 activin receptor type-1C isoform 1 phosphorylated 1 (human)
hACVR1C/iso:1/Phos:1
Yes
organism-sequence


PR:Q8NER5-2 activin receptor type-1C isoform 2 (human)
hACVR1C/iso:2

organism-sequence


PR:Q8NER5-3 activin receptor type-1C isoform 3 (human)
hACVR1C/iso:3

organism-sequence


PR:Q8NER5-4 activin receptor type-1C isoform 4 (human)
hACVR1C/iso:4
Yes
organism-modification


PR:000060490 activin receptor type-1C, signal peptide removed form (human)
hACVR1C/SigPep-

organism-modification


PR:000063700 activin receptor type-1C, signal peptide removed phosphorylated 1 (human)
hACVR1C/SigPep-/Phos:1

sequence


PR:000000204 activin receptor type-1C isoform 1
ACVR1C/iso:1

organism-sequence


PR:Q8K348-1 activin receptor type-1C isoform 1 (mouse)
mACVR1C/iso:1

organism-sequence


PR:Q8NER5-1 activin receptor type-1C isoform 1 (human)
hACVR1C/iso:1

organism-modification


PR:000036439 activin receptor type-1C isoform 1 phosphorylated 1 (human)
hACVR1C/iso:1/Phos:1
Yes
modification


PR:000000413 activin receptor type-1C isoform 1 phosphorylated form
ACVR1C/iso:1/PhosRes+

modification


PR:000000527 activin receptor type-1C isoform 1 phosphorylated 1
ACVR1C/iso:1/Phos:1

organism-modification


PR:000036439 activin receptor type-1C isoform 1 phosphorylated 1 (human)
hACVR1C/iso:1/Phos:1
Yes
sequence


PR:000000205 activin receptor type-1C isoform 2
ACVR1C/iso:2

organism-sequence


PR:A2AJR6 activin receptor type-1C isoform 2 (mouse)
mACVR1C/iso:2

organism-sequence


PR:Q8NER5-2 activin receptor type-1C isoform 2 (human)
hACVR1C/iso:2

sequence


PR:000000206 activin receptor type-1C isoform 3
ACVR1C/iso:3

organism-sequence


PR:A2AJR5 activin receptor type-1C isoform 3 (mouse)
mACVR1C/iso:3

organism-sequence


PR:Q8NER5-3 activin receptor type-1C isoform 3 (human)
hACVR1C/iso:3

sequence


PR:000000207 activin receptor type-1C isoform 4
ACVR1C/iso:4

organism-sequence


PR:Q8NER5-4 activin receptor type-1C isoform 4 (human)
hACVR1C/iso:4
Yes
gene


PR:000000126 activin receptor type-1-like
ACVRL1

organism-gene


PR:P37023 activin receptor type-1-like (human)
hACVRL1

organism-sequence


PR:000000317 activin receptor type-1-like sequence variant G48R (human)
hACVRL1/var:G48R
Yes
organism-sequence


PR:000000318 activin receptor type-1-like sequence variant E215K (human)
hACVRL1/var:E215K
Yes
organism-sequence


PR:000000319 activin receptor type-1-like sequence variant H222del (human)
hACVRL1/var:H222del
Yes
organism-sequence


PR:000000320 activin receptor type-1-like sequence variant S233del (human)
hACVRL1/var:S233del
Yes
organism-sequence


PR:000000321 activin receptor type-1-like sequence variant G223R (human)
hACVRL1/var:G223R
Yes
organism-sequence


PR:000000322 activin receptor type-1-like sequence variant K229R (human)
hACVRL1/var:K229R
Yes
organism-sequence


PR:000000323 activin receptor type-1-like sequence variant D254del (human)
hACVRL1/var:D254del
Yes
organism-sequence


PR:000000324 activin receptor type-1-like sequence variant M376V (human)
hACVRL1/var:M376V
Yes
organism-sequence


PR:000000325 activin receptor type-1-like sequence variant L285F (human)
hACVRL1/var:L285F
Yes
organism-sequence


PR:000000326 activin receptor type-1-like sequence variant A306P (human)
hACVRL1/var:A306P
Yes
organism-sequence


PR:000000327 activin receptor type-1-like sequence variant H314Y (human)
hACVRL1/var:H314Y
Yes
organism-sequence


PR:000000328 activin receptor type-1-like sequence variant W50C (human)
hACVRL1/var:W50C
Yes
organism-sequence


PR:000000329 activin receptor type-1-like sequence variant S333I (human)
hACVRL1/var:S333I
Yes
organism-sequence


PR:000000330 activin receptor type-1-like sequence variant L337P (human)
hACVRL1/var:L337P
Yes
organism-sequence


PR:000000331 activin receptor type-1-like sequence variant C344Y (human)
hACVRL1/var:C344Y
Yes
organism-sequence


PR:000000332 activin receptor type-1-like sequence variant A347P (human)
hACVRL1/var:A347P
Yes
organism-sequence


PR:000000333 activin receptor type-1-like sequence variant R374Q (human)
hACVRL1/var:R374Q
Yes
organism-sequence


PR:000000334 activin receptor type-1-like sequence variant R374W (human)
hACVRL1/var:R374W
Yes
organism-sequence


PR:000000335 activin receptor type-1-like sequence variant P378L (human)
hACVRL1/var:P378L
Yes
organism-sequence


PR:000000336 activin receptor type-1-like sequence variant E379K (human)
hACVRL1/var:E379K
Yes
organism-sequence


PR:000000337 activin receptor type-1-like sequence variant M376R (human)
hACVRL1/var:M376R
Yes
organism-sequence


PR:000000338 activin receptor type-1-like sequence variant D397G (human)
hACVRL1/var:D397G
Yes
organism-sequence


PR:000000339 activin receptor type-1-like sequence variant C51Y (human)
hACVRL1/var:C51Y
Yes
organism-sequence


PR:000000340 activin receptor type-1-like sequence variant I398N (human)
hACVRL1/var:I398N
Yes
organism-sequence


PR:000000341 activin receptor type-1-like sequence variant W399S (human)
hACVRL1/var:W399S
Yes
organism-sequence


PR:000000342 activin receptor type-1-like sequence variant E407D (human)
hACVRL1/var:E407D
Yes
organism-sequence


PR:000000343 activin receptor type-1-like sequence variant R411P (human)
hACVRL1/var:R411P
Yes
organism-sequence


PR:000000344 activin receptor type-1-like sequence variant R411Q (human)
hACVRL1/var:R411Q
Yes
organism-sequence


PR:000000345 activin receptor type-1-like sequence variant R411W (human)
hACVRL1/var:R411W
Yes
organism-sequence


PR:000000346 activin receptor type-1-like sequence variant P424T (human)
hACVRL1/var:P424T
Yes
organism-sequence


PR:000000347 activin receptor type-1-like sequence variant F425L (human)
hACVRL1/var:F425L
Yes
organism-sequence


PR:000000348 activin receptor type-1-like sequence variant F425V (human)
hACVRL1/var:F425V
Yes
organism-sequence


PR:000000349 activin receptor type-1-like sequence variant F425del (human)
hACVRL1/var:F425del
Yes
organism-sequence


PR:000000350 activin receptor type-1-like sequence variant R67Q (human)
hACVRL1/var:R67Q
Yes
organism-sequence


PR:000000351 activin receptor type-1-like sequence variant R479L (human)
hACVRL1/var:R479L
Yes
organism-sequence


PR:000000352 activin receptor type-1-like sequence variant A482V (human)
hACVRL1/var:A482V
Yes
organism-sequence


PR:000000353 activin receptor type-1-like sequence variant R484W (human)
hACVRL1/var:R484W
Yes
organism-sequence


PR:000000354 activin receptor type-1-like sequence variant K487T (human)
hACVRL1/var:K487T
Yes
organism-sequence


PR:000000355 activin receptor type-1-like sequence variant GA48/49EP (human)
hACVRL1/var:(GA48/49EP)
Yes
organism-sequence


PR:000000356 activin receptor type-1-like sequence variant R67W (human)
hACVRL1/var:R67W
Yes
organism-sequence


PR:000000357 activin receptor type-1-like sequence variant C77W (human)
hACVRL1/var:C77W
Yes
organism-sequence


PR:000000358 activin receptor type-1-like sequence variant N96D (human)
hACVRL1/var:N96D
Yes
organism-sequence


PR:000000359 activin receptor type-1-like sequence variant D179A (human)
hACVRL1/var:D179A
Yes
organism-sequence


PR:000000360 activin receptor type-1-like sequence variant G211D (human)
hACVRL1/var:G211D
Yes
organism-sequence


PR:P37023-1 activin receptor type-1-like isoform 1 (human)
hACVRL1/iso:1
Yes
organism-modification


PR:000064347 activin receptor type-1-like, signal peptide removed form (human)
hACVRL1/SigPep-

organism-modification


PR:000067378 activin receptor type-1-like deaminated 1 (human)
hACVRL1/Deam:1

organism-gene


PR:P80203 activin receptor type-1-like (rat)
rACVRL1

organism-gene


PR:Q61288 activin receptor type-1-like (mouse)
mACVRL1

organism-sequence


PR:Q61288-1 activin receptor type-1-like isoform 1 (mouse)
mACVRL1/iso:1
Yes
sequence


PR:000000316 activin receptor type-1-like isoform 1
ACVRL1/iso:1

organism-sequence


PR:P37023-1 activin receptor type-1-like isoform 1 (human)
hACVRL1/iso:1
Yes
organism-sequence


PR:Q61288-1 activin receptor type-1-like isoform 1 (mouse)
mACVRL1/iso:1
Yes
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TGFBR2 forms found in complexes   

TGFBR2 Component
 Complexes
PR:000000523 TGFBR1/iso:1/SigPep-/Phos:1 PR:000025975 transforming growth factor beta type I receptor homodimeric complex phosphorylated form
PR:000025959 hTGFBR1/iso:1/SigPep-/Phos:1 PR:000025961 transforming growth factor beta type I receptor homodimeric complex phosphorylated form (human)
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000006 TGFBR2
The type 1 receptors are characterized by the presence of a glycine-serine rich juxta-membrane domain (the GS-motif) that is critical for their activation		 acts_upstream_of_or_withinGO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway PIRSF:PIRSF037391
enablesGO:0005025 transforming growth factor beta receptor activity, type I PIRSF:PIRSF037391
GO:0019838 growth factor binding PANTHER:PTHR23255; PIRSF:PIRSF037391
PR:000000137 hBMPR1A/var:Y62D
UniProtKB:P36894, Tyr-62, CHEBI:29958		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:12417513
PR:000000138 hBMPR1A/var:C82Y
UniProtKB:P36894, Cys-82, CHEBI:46858		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:12417513
PR:000000139 hBMPR1A/var:C124R
UniProtKB:P36894, Cys-124, CHEBI:29952		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:11536076
PR:000000140 hBMPR1A/var:C130R
UniProtKB:P36894, Cys-130, CHEBI:29952		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:12136244
PR:000000141 hBMPR1A/var:A338D
UniProtKB:P36894, Ala-338, CHEBI:29958		 associated_with_disease_progressionDO:6457 Cowden syndrome PMID:11536076
PR:000000142 hBMPR1A/var:C376Y
UniProtKB:P36894, Cys-376, CHEBI:46858		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:11536076
PR:000000143 hBMPR1A/var:R443C
UniProtKB:P36894, Arg-443, CHEBI:29950		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:12417513; PMID:17344846
PR:000000144 hBMPR1A/var:M470T
UniProtKB:P36894, Met-470, CHEBI:30013		 associated_with_disease_progressionDO:0050787 juvenile polyposis syndrome PMID:12630959
PR:000000146 hBMPR1B/var:I200K
Example: UniProtKB:O00238-1, Ile-200, CHEBI:29967		 associated_with_disease_progressionDO:0050581 brachydactyly PMID:14523231
enablesNOT GO:0004674 protein serine/threonine kinase activity PMID:14523231
located_inGO:0009986 cell surface PMID:14523231
PR:000000147 hBMPR1B/var:R486W
Example: UniProtKB:O00238-1, Arg-486, CHEBI:29954		 associated_with_disease_progressionDO:0050581 brachydactyly PMID:14523231
enablesGO:0004674 protein serine/threonine kinase activity PMID:14523231
located_inGO:0009986 cell surface PMID:14523231
PR:000000186 hTGFBR1/var:T200I
UniProtKB:P36897, Thr-200, CHEBI:30009		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:15731757
PR:000000187 hTGFBR1/var:10 located_inSO:0001605 amino_acid_insertion PMID:9661882
PR:000000188 hTGFBR1/var:11
UniProtKB:P36897, 1-23, 27-503		 acts_upstream_of_or_withinGO:0007165 signal transduction PMID:9661882
GO:0007179 transforming growth factor beta receptor signaling pathway PMID:9661882
PR:000000189 hTGFBR1/var:K232E
Example: UniProtKB:P36897-1, Lys-232, CHEBI:29972		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:16928994
PR:000000190 hTGFBR1/var:S241L
Example: UniProtKB:P36897-1, Ser-241, CHEBI:30006		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:16596670; PMID:16791849
PR:000000191 hTGFBR1/var:N267H
Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:16791849
PR:000000192 hTGFBR1/var:M318R
Example: UniProtKB:P36897-1, Met-318, CHEBI:29952		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:15731757
PR:000000193 hTGFBR1/var:D400G
Example: UniProtKB:P36897-1, Asp-400, CHEBI:29947		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:15731757
PR:000000194 hTGFBR1/var:R487P
Example: UniProtKB:P36897-1, Arg-487, CHEBI:50342		 associated_with_disease_progressionDO:14756 vascular type Ehlers-Danlos syndrome PMID:15731757; PMID:16928994
PR:000000195 hTGFBR1/var:R487E
Example: UniProtKB:P36897-1, Arg-487, CHEBI:29972		 associated_with_disease_progressionDO:0050466 Loeys-Dietz syndrome PMID:16791849; PMID:16928994
PR:000000196 hTGFBR1/var:R487W
Example: UniProtKB:P36897-1, Arg-487, CHEBI:29954		 associated_with_disease_progressionDO:14756 vascular type Ehlers-Danlos syndrome PMID:16928994
PR:000000200 hACVR1/var:R206H
UniProtKB:Q04771, Arg-206, CHEBI:29979		 associated_with_disease_progressionDO:13374 fibrodysplasia ossificans progressiva PMID:8397373
located_inGO:0005886 plasma membrane PMID:8397373
PR:000000317 hACVRL1/var:G48R
UniProtKB:P37023, Gly-48, CHEBI:29952		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000318 hACVRL1/var:E215K
UniProtKB:P37023, Glu-215, CHEBI:29967		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000319 hACVRL1/var:H222del
UniProtKB:P37023, 22-221, 223-503		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_006209
located_inGO:0005886 plasma membrane PMID:14684682
PR:000000320 hACVRL1/var:S233del
UniProtKB:P37023, 22-232, 234-503		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026792
PR:000000321 hACVRL1/var:G223R
UniProtKB:P37023, Gly-223, CHEBI:29952		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000322 hACVRL1/var:K229R
UniProtKB:P37023, Lys-229, CHEBI:29952		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000323 hACVRL1/var:D254del
UniProtKB:P37023, 22-253, 255-503		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026793
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000324 hACVRL1/var:M376V
UniProtKB:P37023, Met-376, CHEBI:30015		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000325 hACVRL1/var:L285F
UniProtKB:P37023, Leu-285, CHEBI:29997		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000326 hACVRL1/var:A306P
UniProtKB:P37023, Ala-306, CHEBI:50342		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000327 hACVRL1/var:H314Y
UniProtKB:P37023, His-314, CHEBI:46858		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000328 hACVRL1/var:W50C
UniProtKB:P37023, Trp-50, CHEBI:29950		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:10767348; PMID:14684682; PMID:9245985
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000329 hACVRL1/var:S333I
UniProtKB:P37023, Ser-333, CHEBI:30009		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:10767348; PMID:14684682; PMID:9245985
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000330 hACVRL1/var:L337P
UniProtKB:P37023, Leu-337, CHEBI:50342		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000331 hACVRL1/var:C344Y
UniProtKB:P37023, Cys-344, CHEBI:46858		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:10767348; PMID:14684682
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000332 hACVRL1/var:A347P
UniProtKB:P37023, Ala-347, CHEBI:50342		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000333 hACVRL1/var:R374Q
UniProtKB:P37023, Arg-374, CHEBI:30011		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682; PMID:15024723
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000334 hACVRL1/var:R374W
UniProtKB:P37023, Arg-374, CHEBI:29954		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11170071; PMID:14684682; PMID:15712270; PMID:9245985
PR:000000335 hACVRL1/var:P378L
UniProtKB:P37023, Pro-378, CHEBI:30006		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000336 hACVRL1/var:E379K
UniProtKB:P37023, Glu-379, CHEBI:29967		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723; PMID:15712270
PR:000000337 hACVRL1/var:M376R
UniProtKB:P37023, Met-376, CHEBI:29952		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:8640225
PR:000000338 hACVRL1/var:D397G
UniProtKB:P37023, Asp-397, CHEBI:29947		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000339 hACVRL1/var:C51Y
UniProtKB:P37023, Cys-51, CHEBI:46858		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11170071
PR:000000340 hACVRL1/var:I398N
UniProtKB:P37023, Ile-398, CHEBI:50347		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11170071
PR:000000341 hACVRL1/var:W399S
UniProtKB:P37023, Trp-399, CHEBI:29999		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11170071
PR:000000342 hACVRL1/var:E407D
UniProtKB:P37023, Glu-407, CHEBI:29958		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:10767348; PMID:15712270
PR:000000343 hACVRL1/var:R411P
UniProtKB:P37023, Arg-411, CHEBI:50342		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000344 hACVRL1/var:R411Q
UniProtKB:P37023, Arg-411, CHEBI:30011		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682; PMID:15024723; PMID:8640225
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000345 hACVRL1/var:R411W
UniProtKB:P37023, Arg-411, CHEBI:29954		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11484689; PMID:15024723; PMID:15712270
PR:000000346 hACVRL1/var:P424T
UniProtKB:P37023, Pro-424, CHEBI:30013		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:9245985
PR:000000347 hACVRL1/var:F425L
UniProtKB:P37023, Phe-425, CHEBI:30006		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000348 hACVRL1/var:F425V
UniProtKB:P37023, Phe-425, CHEBI:30015		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15712270
PR:000000349 hACVRL1/var:F425del
UniProtKB:P37023, 22-423, 425-503		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026812
PR:000000350 hACVRL1/var:R67Q
UniProtKB:P37023, Arg-67, CHEBI:30011		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682; PMID:9245985
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000351 hACVRL1/var:R479L
UniProtKB:P37023, Arg-479, CHEBI:30006		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000352 hACVRL1/var:A482V
UniProtKB:P37023, Ala-482, CHEBI:30015		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000353 hACVRL1/var:R484W
UniProtKB:P37023, Arg-484, CHEBI:29954		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11484689; PMID:15024723
PR:000000354 hACVRL1/var:K487T
UniProtKB:P37023, Lys-487, CHEBI:30013		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682
located_inGO:0005886 plasma membrane PMID:14684682
PR:000000355 hACVRL1/var:(GA48/49EP)
UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026784
PR:000000356 hACVRL1/var:R67W
UniProtKB:P37023, Arg-67, CHEBI:29954		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:15712270
PR:000000357 hACVRL1/var:C77W
UniProtKB:P37023, Cys-77, CHEBI:29954		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:10694922; PMID:14684682
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000000358 hACVRL1/var:N96D
UniProtKB:P37023, Asn-96, CHEBI:29958		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:10694922
PR:000000359 hACVRL1/var:D179A
UniProtKB:P37023, Asp-179, CHEBI:46217		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682
located_inGO:0009986 cell surface PMID:14684682
PR:000000360 hACVRL1/var:G211D
UniProtKB:P37023, Gly-211, CHEBI:29958		 associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:14684682
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682
PR:000025959 hTGFBR1/iso:1/SigPep-/Phos:1
UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047		 acts_upstream_of_or_withinGO:0006468 protein phosphorylation PMID:7774578
GO:0007165 signal transduction PMID:8242743
GO:0007181 transforming growth factor beta receptor complex assembly PMID:8947046
enablesGO:0005025 transforming growth factor beta receptor activity, type I PMID:7774578; PMID:8947046
located_inGO:0005886 plasma membrane PMID:8947046
PR:000036422 hBMPR1A/iso:1/Phos:1 acts_upstream_of_or_withinGO:0006468 protein phosphorylation PMID:12065756
GO:0030509 BMP signaling pathway PMID:12829744
enablesGO:0004674 protein serine/threonine kinase activity PMID:12829744
located_inGO:0009986 cell surface PMID:10712517
GO:0043235 receptor complex PMID:12829744; PMID:15940369
PR:000036423 mBMPR1A/iso:1/Phos:1 enablesGO:0046332 SMAD binding PMID:10814522; PMID:9738003
PR:000036425 mBMPR1B/iso:1/Phos:1 acts_upstream_of_or_withinGO:0001501 skeletal system development PMID:14523231
GO:0001502 cartilage condensation PMID:10631181; PMID:14523231
GO:0035108 limb morphogenesis PMID:14523231
located_inGO:0009986 cell surface PMID:10712517; PMID:14523231
GO:0043235 receptor complex PMID:10712517
PR:000036426 hBMPR1B/iso:1/Phos:1 acts_upstream_of_or_withinGO:0030509 BMP signaling pathway PMID:10051328
GO:0045597 positive regulation of cell differentiation PMID:14523231
PR:000036432 hTGFBR1/iso:1/SigPep-
UniProtKB:P36897-1, 34-503		 acts_upstream_of_or_withinGO:0007165 signal transduction PMID:8242743
GO:0007181 transforming growth factor beta receptor complex assembly PMID:8242743
located_inGO:0005886 plasma membrane PMID:8242743
PR:000036434 mTGFBR1/iso:1/SigPep-/Phos:1
UniProtKB:Q64729-1, 23-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047		 acts_upstream_of_or_withinGO:0006468 protein phosphorylation PMID:12065756
PR:000036435 hACVR1/iso:1/SigPep-/Phos:1 acts_upstream_of_or_withinGO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway PMID:8242742; PMID:8389764
enablesGO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:8389764
GO:0048185 activin binding PMID:8242742
located_inGO:0005886 plasma membrane PMID:8242742; PMID:8397373
GO:0048179 activin receptor complex PMID:8242742
PR:000036436 mACVR1/iso:1/SigPep-/Phos:1 acts_upstream_of_or_withinGO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway PMID:11376112
PR:000036437 hACVR1B/iso:1/Phos:1 acts_upstream_of_or_withinGO:0006468 protein phosphorylation PMID:12065756
enablesGO:0016361 activin receptor activity, type I PMID:8622651
GO:0046332 SMAD binding PMID:12065756
located_inGO:0005886 plasma membrane PMID:8397373
GO:0009986 cell surface PMID:12665502
PR:000036439 hACVR1C/iso:1/Phos:1 acts_upstream_of_or_withinGO:0006468 protein phosphorylation PMID:12065756
GO:0042981 regulation of apoptotic process PMID:15531507
enablesGO:0016361 activin receptor activity, type I PMID:12063393; PMID:15196700
located_inGO:0005886 plasma membrane PMID:12606401
GO:0048179 activin receptor complex PMID:15531507
PR:O00238-1 hBMPR1B/iso:1 acts_upstream_of_or_withinGO:0030509 BMP signaling pathway PMID:10051328
PR:P36894-1 hBMPR1A/iso:1 located_inGO:0016020 membrane PMID:8397373
GO:0043235 receptor complex PMID:15940369
PR:P36895-1 mBMPR1A/iso:1 acts_upstream_of_or_withinGO:0030509 BMP signaling pathway PMID:10814522
PR:P36896-1 hACVR1B/iso:1 acts_upstream_of_or_withinGO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway PMID:11069203
PR:P36896-2 hACVR1B/iso:2 enablesNOT GO:0016361 activin receptor activity, type I PMID:11117535; PMID:8636304
located_inGO:0005886 plasma membrane PMID:11117535; PMID:8636304
PR:P36896-3 hACVR1B/iso:3 enablesNOT GO:0016361 activin receptor activity, type I PMID:11117535; PMID:8636304
located_inGO:0005886 plasma membrane PMID:11117535; PMID:8636304
PR:P36897-1 hTGFBR1/iso:1 acts_upstream_of_or_withinGO:0007165 signal transduction PMID:8242743
PR:P36898-1 mBMPR1B/iso:1 acts_upstream_of_or_withinGO:0001501 skeletal system development PMID:14523231
GO:0001502 cartilage condensation PMID:14523231
GO:0035108 limb morphogenesis PMID:14523231
located_inGO:0009986 cell surface PMID:10712517
PR:P37023-1 hACVRL1/iso:1 acts_upstream_of_or_withinGO:0001525 angiogenesis PMID:12453878
GO:0006468 protein phosphorylation PMID:9920917
GO:0008015 blood circulation PMID:9245985
enablesGO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:8242742; PMID:9245985
GO:0005025 transforming growth factor beta receptor activity, type I PMID:8242742
GO:0016361 activin receptor activity, type I PMID:8242742
GO:0046332 SMAD binding PMID:9920917
GO:0048185 activin binding PMID:8242742
GO:0050431 transforming growth factor beta binding PMID:8242742
located_inGO:0005886 plasma membrane PMID:8242742; PMID:8397373
GO:0009986 cell surface PMID:8242742
PR:Q61288-1 mACVRL1/iso:1 acts_upstream_of_or_withinGO:0001525 angiogenesis PMID:10716993
GO:0006468 protein phosphorylation PMID:14580334
GO:0007179 transforming growth factor beta receptor signaling pathway PMID:14580334
enablesGO:0046332 SMAD binding PMID:14580334
PR:Q8NER5-4 hACVR1C/iso:4 located_inGO:0005886 plasma membrane PMID:12606401