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Protein Ontology report - activin receptor type-1-like
PR:000000126 - http://purl.obolibrary.org/obo/PR_000000126
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000000126   
  PRO nameactivin receptor type-1-like 
  Synonyms
PRO-Short-label: EXACT:ACVRL1
Gene-based: RELATED:ACVRLK1 | ALK1
Other: EXACT:activin receptor-like kinase 1 | ALK-1 | serine/threonine-protein kinase receptor R3 | SKR3
RELATED:TGF-B superfamily receptor type I | TSR-I
  Definition"A TGF-beta superfamily receptor type-1 that is a translation product of the human ACVRL1 gene or a 1:1 ortholog thereof." [PRO:CNA] 
  PRO Categorygene 
  ParentPR:000000006 TGF-beta superfamily receptor type-1
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene1                                                  Organism-Gene 3                                        
         Sequence1                                                  Organism-Sequence 46                                        
         Modification0                                                  Organism-Modification 2                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
IUPHARobj:1784
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
gene


PR:000000126
activin receptor type-1-like
ACVRL1
"A TGF-beta superfamily receptor type-1 that is a translation product of the human ACVRL1 gene or a 1:1 ortholog thereof." [PRO:CNA]

organism-gene


PR:P37023
activin receptor type-1-like (human)
hACVRL1
"An activin receptor type-1-like that is encoded in the genome of human." [PRO:CNA, UniProtKB:P37023]

organism-sequence


PR:000000317
activin receptor type-1-like sequence variant G48R (human)
hACVRL1/var:G48R
"An activin receptor type-1-like (human) that has an Arg residue at the position equivalent to Gly-48 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000318
activin receptor type-1-like sequence variant E215K (human)
hACVRL1/var:E215K
"An activin receptor type-1-like (human) that has a Lys residue at the position equivalent to Glu-215 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-215, CHEBI:29967." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000319
activin receptor type-1-like sequence variant H222del (human)
hACVRL1/var:H222del
"An activin receptor type-1-like (human) that has a single-residue deletion at the position equivalent to His-222 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-221, 223-503." [PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000320
activin receptor type-1-like sequence variant S233del (human)
hACVRL1/var:S233del
"An activin receptor type-1-like (human) that has a single-residue deletion at the position equivalent to Ser-233 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-232, 234-503." [PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000321
activin receptor type-1-like sequence variant G223R (human)
hACVRL1/var:G223R
"An activin receptor type-1-like (human) that has an Arg residue at the position equivalent to Gly-223 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-223, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000322
activin receptor type-1-like sequence variant K229R (human)
hACVRL1/var:K229R
"An activin receptor type-1-like (human) that has an Arg residue at the position equivalent to Lys-229 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-229, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000323
activin receptor type-1-like sequence variant D254del (human)
hACVRL1/var:D254del
"An activin receptor type-1-like (human) that has a single-residue deletion at the position equivalent to Asp-254 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-253, 255-503." [PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000324
activin receptor type-1-like sequence variant M376V (human)
hACVRL1/var:M376V
"An activin receptor type-1-like (human) that has a Val residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000325
activin receptor type-1-like sequence variant L285F (human)
hACVRL1/var:L285F
"An activin receptor type-1-like (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000326
activin receptor type-1-like sequence variant A306P (human)
hACVRL1/var:A306P
"An activin receptor type-1-like (human) that has a Pro residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-306, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000327
activin receptor type-1-like sequence variant H314Y (human)
hACVRL1/var:H314Y
"An activin receptor type-1-like (human) that has a Tyr residue at the position equivalent to His-314 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, His-314, CHEBI:46858." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000328
activin receptor type-1-like sequence variant W50C (human)
hACVRL1/var:W50C
"An activin receptor type-1-like (human) that has a Cys residue at the position equivalent to Trp-50 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-50, CHEBI:29950." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000329
activin receptor type-1-like sequence variant S333I (human)
hACVRL1/var:S333I
"An activin receptor type-1-like (human) that has an Ile residue at the position equivalent to Ser-333 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ser-333, CHEBI:30009." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000330
activin receptor type-1-like sequence variant L337P (human)
hACVRL1/var:L337P
"An activin receptor type-1-like (human) that has a Pro residue at the position equivalent to Leu-337 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-337, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000331
activin receptor type-1-like sequence variant C344Y (human)
hACVRL1/var:C344Y
"An activin receptor type-1-like (human) that has a Tyr residue at the position equivalent to Cys-344 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-344, CHEBI:46858." [PMID:10767348, PMID:14684682, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000332
activin receptor type-1-like sequence variant A347P (human)
hACVRL1/var:A347P
"An activin receptor type-1-like (human) that has a Pro residue at the position equivalent to Ala-347 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-347, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000333
activin receptor type-1-like sequence variant R374Q (human)
hACVRL1/var:R374Q
"An activin receptor type-1-like (human) that has a Gln residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:30011." [PMID:14684682, PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000334
activin receptor type-1-like sequence variant R374W (human)
hACVRL1/var:R374W
"An activin receptor type-1-like (human) that has a Trp residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:29954." [PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000335
activin receptor type-1-like sequence variant P378L (human)
hACVRL1/var:P378L
"An activin receptor type-1-like (human) that has a Leu residue at the position equivalent to Pro-378 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-378, CHEBI:30006." [PMID:14684682, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000336
activin receptor type-1-like sequence variant E379K (human)
hACVRL1/var:E379K
"An activin receptor type-1-like (human) that has a Lys residue at the position equivalent to Glu-379 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-379, CHEBI:29967." [PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000337
activin receptor type-1-like sequence variant M376R (human)
hACVRL1/var:M376R
"An activin receptor type-1-like (human) that has an Arg residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:29952." [PMID:8640225, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000338
activin receptor type-1-like sequence variant D397G (human)
hACVRL1/var:D397G
"An activin receptor type-1-like (human) that has a Gly residue at the position equivalent to Asp-397 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-397, CHEBI:29947." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000339
activin receptor type-1-like sequence variant C51Y (human)
hACVRL1/var:C51Y
"An activin receptor type-1-like (human) that has a Tyr residue at the position equivalent to Cys-51 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-51, CHEBI:46858." [PMID:11170071, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000340
activin receptor type-1-like sequence variant I398N (human)
hACVRL1/var:I398N
"An activin receptor type-1-like (human) that has an Asn residue at the position equivalent to Ile-398 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ile-398, CHEBI:50347." [PMID:11170071, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000341
activin receptor type-1-like sequence variant W399S (human)
hACVRL1/var:W399S
"An activin receptor type-1-like (human) that has a Ser residue at the position equivalent to Trp-399 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-399, CHEBI:29999." [PMID:11170071, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000342
activin receptor type-1-like sequence variant E407D (human)
hACVRL1/var:E407D
"An activin receptor type-1-like (human) that has an Asp residue at the position equivalent to Glu-407 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-407, CHEBI:29958." [PMID:10767348, PMID:15712270, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000343
activin receptor type-1-like sequence variant R411P (human)
hACVRL1/var:R411P
"An activin receptor type-1-like (human) that has a Pro residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000344
activin receptor type-1-like sequence variant R411Q (human)
hACVRL1/var:R411Q
"An activin receptor type-1-like (human) that has a Gln residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:30011." [PMID:14684682, PMID:15024723, PMID:8640225, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000345
activin receptor type-1-like sequence variant R411W (human)
hACVRL1/var:R411W
"An activin receptor type-1-like (human) that has a Trp residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:29954." [PMID:11484689, PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000346
activin receptor type-1-like sequence variant P424T (human)
hACVRL1/var:P424T
"An activin receptor type-1-like (human) that has a Thr residue at the position equivalent to Pro-424 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-424, CHEBI:30013." [PMID:9245985, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000347
activin receptor type-1-like sequence variant F425L (human)
hACVRL1/var:F425L
"An activin receptor type-1-like (human) that has a Leu residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000348
activin receptor type-1-like sequence variant F425V (human)
hACVRL1/var:F425V
"An activin receptor type-1-like (human) that has a Val residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30015." [PMID:15712270, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000349
activin receptor type-1-like sequence variant F425del (human)
hACVRL1/var:F425del
"An activin receptor type-1-like (human) that has a single-residue deletion at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-423, 425-503." [PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000350
activin receptor type-1-like sequence variant R67Q (human)
hACVRL1/var:R67Q
"An activin receptor type-1-like (human) that has a Gln residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:30011." [PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000351
activin receptor type-1-like sequence variant R479L (human)
hACVRL1/var:R479L
"An activin receptor type-1-like (human) that has a Leu residue at the position equivalent to Arg-479 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-479, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000352
activin receptor type-1-like sequence variant A482V (human)
hACVRL1/var:A482V
"An activin receptor type-1-like (human) that has a Val residue at the position equivalent to Ala-482 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-482, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000353
activin receptor type-1-like sequence variant R484W (human)
hACVRL1/var:R484W
"An activin receptor type-1-like (human) that has a Trp residue at the position equivalent to Arg-484 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-484, CHEBI:29954." [PMID:11484689, PMID:15024723, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000354
activin receptor type-1-like sequence variant K487T (human)
hACVRL1/var:K487T
"An activin receptor type-1-like (human) that has a Thr residue at the position equivalent to Lys-487 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-487, CHEBI:30013." [PMID:14684682, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000355
activin receptor type-1-like sequence variant GA48/49EP (human)
hACVRL1/var:(GA48/49EP)
"An activin receptor type-1-like (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217." [PMID:10767348, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000356
activin receptor type-1-like sequence variant R67W (human)
hACVRL1/var:R67W
"An activin receptor type-1-like (human) that has a Trp residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:29954." [PMID:15712270, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000357
activin receptor type-1-like sequence variant C77W (human)
hACVRL1/var:C77W
"An activin receptor type-1-like (human) that has a Trp residue at the position equivalent to Cys-77 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-77, CHEBI:29954." [PMID:10694922, PMID:14684682, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000358
activin receptor type-1-like sequence variant N96D (human)
hACVRL1/var:N96D
"An activin receptor type-1-like (human) that has an Asp residue at the position equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asn-96, CHEBI:29958." [PMID:10694922, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000359
activin receptor type-1-like sequence variant D179A (human)
hACVRL1/var:D179A
"An activin receptor type-1-like (human) that has an Ala residue at the position equivalent to Asp-179 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-179, CHEBI:46217." [PMID:14684682, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000360
activin receptor type-1-like sequence variant G211D (human)
hACVRL1/var:G211D
"An activin receptor type-1-like (human) that has an Asp residue at the position equivalent to Gly-211 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-211, CHEBI:29958." [PMID:14684682, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:P37023-1
activin receptor type-1-like isoform 1 (human)
hACVRL1/iso:1
"An activin receptor type-1-like isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
organism-modification


PR:000064347
activin receptor type-1-like, signal peptide removed form (human)
hACVRL1/SigPep-
"An activin receptor type-1-like (human) that has had the signal peptide removed. UniProtKB:P37023, 22-503." [PRO:DNx, Reactome:R-HSA-8858382]

organism-modification


PR:000067378
activin receptor type-1-like deaminated 1 (human)
hACVRL1/Deam:1
"An activin receptor type-1-like (human) that has been deaminated on the residue at the position equivalent to Asn-475 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asn-475, MOD:00684." [IEDB_epitope:1365326, PRO:DNx]

organism-gene


PR:P80203
activin receptor type-1-like (rat)
rACVRL1
"An activin receptor type-1-like that is encoded in the genome of rat." [OMA:P80203, PRO:DNx]

organism-gene


PR:Q61288
activin receptor type-1-like (mouse)
mACVRL1
"An activin receptor type-1-like that is encoded in the genome of mouse." [OMA:Q61288, PRO:DNx]

organism-sequence


PR:Q61288-1
activin receptor type-1-like isoform 1 (mouse)
mACVRL1/iso:1
"An activin receptor type-1-like isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
Yes
sequence


PR:000000316
activin receptor type-1-like isoform 1
ACVRL1/iso:1
"An activin receptor type-1-like that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P37023-1 or a 1:1 ortholog thereof." [PRO:CNA, PRO:DAN]

organism-sequence


PR:P37023-1
activin receptor type-1-like isoform 1 (human)
hACVRL1/iso:1
"An activin receptor type-1-like isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
organism-sequence


PR:Q61288-1
activin receptor type-1-like isoform 1 (mouse)
mACVRL1/iso:1
"An activin receptor type-1-like isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
Yes
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
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: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