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Protein Ontology report - serine/threonine-protein kinase receptor R3
PR:000000126 - http://purl.obolibrary.org/obo/PR_000000126
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000000126   
  PRO nameserine/threonine-protein kinase receptor R3 
  Synonyms
PRO-Short-label: EXACT:ACVRL1
Gene-based: RELATED:ACVRLK1 | ALK1
Other: EXACT:activin receptor-like kinase 1 | ALK-1 | 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 Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
gene


PR:000000126 serine/threonine-protein kinase receptor R3
ACVRL1

organism-gene


PR:P37023 serine/threonine-protein kinase receptor R3 (human)
hACVRL1

organism-sequence


PR:000000317 serine/threonine-protein kinase receptor R3 sequence variant G48R (human)
hACVRL1/var:G48R
Yes
organism-sequence


PR:000000318 serine/threonine-protein kinase receptor R3 sequence variant E215K (human)
hACVRL1/var:E215K
Yes
organism-sequence


PR:000000319 serine/threonine-protein kinase receptor R3 sequence variant H222del (human)
hACVRL1/var:H222del
Yes
organism-sequence


PR:000000320 serine/threonine-protein kinase receptor R3 sequence variant S233del (human)
hACVRL1/var:S233del
Yes
organism-sequence


PR:000000321 serine/threonine-protein kinase receptor R3 sequence variant G223R (human)
hACVRL1/var:G223R
Yes
organism-sequence


PR:000000322 serine/threonine-protein kinase receptor R3 sequence variant K229R (human)
hACVRL1/var:K229R
Yes
organism-sequence


PR:000000323 serine/threonine-protein kinase receptor R3 sequence variant D254del (human)
hACVRL1/var:D254del
Yes
organism-sequence


PR:000000324 serine/threonine-protein kinase receptor R3 sequence variant M376V (human)
hACVRL1/var:M376V
Yes
organism-sequence


PR:000000325 serine/threonine-protein kinase receptor R3 sequence variant L285F (human)
hACVRL1/var:L285F
Yes
organism-sequence


PR:000000326 serine/threonine-protein kinase receptor R3 sequence variant A306P (human)
hACVRL1/var:A306P
Yes
organism-sequence


PR:000000327 serine/threonine-protein kinase receptor R3 sequence variant H314Y (human)
hACVRL1/var:H314Y
Yes
organism-sequence


PR:000000328 serine/threonine-protein kinase receptor R3 sequence variant W50C (human)
hACVRL1/var:W50C
Yes
organism-sequence


PR:000000329 serine/threonine-protein kinase receptor R3 sequence variant S333I (human)
hACVRL1/var:S333I
Yes
organism-sequence


PR:000000330 serine/threonine-protein kinase receptor R3 sequence variant L337P (human)
hACVRL1/var:L337P
Yes
organism-sequence


PR:000000331 serine/threonine-protein kinase receptor R3 sequence variant C344Y (human)
hACVRL1/var:C344Y
Yes
organism-sequence


PR:000000332 serine/threonine-protein kinase receptor R3 sequence variant A347P (human)
hACVRL1/var:A347P
Yes
organism-sequence


PR:000000333 serine/threonine-protein kinase receptor R3 sequence variant R374Q (human)
hACVRL1/var:R374Q
Yes
organism-sequence


PR:000000334 serine/threonine-protein kinase receptor R3 sequence variant R374W (human)
hACVRL1/var:R374W
Yes
organism-sequence


PR:000000335 serine/threonine-protein kinase receptor R3 sequence variant P378L (human)
hACVRL1/var:P378L
Yes
organism-sequence


PR:000000336 serine/threonine-protein kinase receptor R3 sequence variant E379K (human)
hACVRL1/var:E379K
Yes
organism-sequence


PR:000000337 serine/threonine-protein kinase receptor R3 sequence variant M376R (human)
hACVRL1/var:M376R
Yes
organism-sequence


PR:000000338 serine/threonine-protein kinase receptor R3 sequence variant D397G (human)
hACVRL1/var:D397G
Yes
organism-sequence


PR:000000339 serine/threonine-protein kinase receptor R3 sequence variant C51Y (human)
hACVRL1/var:C51Y
Yes
organism-sequence


PR:000000340 serine/threonine-protein kinase receptor R3 sequence variant I398N (human)
hACVRL1/var:I398N
Yes
organism-sequence


PR:000000341 serine/threonine-protein kinase receptor R3 sequence variant W399S (human)
hACVRL1/var:W399S
Yes
organism-sequence


PR:000000342 serine/threonine-protein kinase receptor R3 sequence variant E407D (human)
hACVRL1/var:E407D
Yes
organism-sequence


PR:000000343 serine/threonine-protein kinase receptor R3 sequence variant R411P (human)
hACVRL1/var:R411P
Yes
organism-sequence


PR:000000344 serine/threonine-protein kinase receptor R3 sequence variant R411Q (human)
hACVRL1/var:R411Q
Yes
organism-sequence


PR:000000345 serine/threonine-protein kinase receptor R3 sequence variant R411W (human)
hACVRL1/var:R411W
Yes
organism-sequence


PR:000000346 serine/threonine-protein kinase receptor R3 sequence variant P424T (human)
hACVRL1/var:P424T
Yes
organism-sequence


PR:000000347 serine/threonine-protein kinase receptor R3 sequence variant F425L (human)
hACVRL1/var:F425L
Yes
organism-sequence


PR:000000348 serine/threonine-protein kinase receptor R3 sequence variant F425V (human)
hACVRL1/var:F425V
Yes
organism-sequence


PR:000000349 serine/threonine-protein kinase receptor R3 sequence variant F425del (human)
hACVRL1/var:F425del
Yes
organism-sequence


PR:000000350 serine/threonine-protein kinase receptor R3 sequence variant R67Q (human)
hACVRL1/var:R67Q
Yes
organism-sequence


PR:000000351 serine/threonine-protein kinase receptor R3 sequence variant R479L (human)
hACVRL1/var:R479L
Yes
organism-sequence


PR:000000352 serine/threonine-protein kinase receptor R3 sequence variant A482V (human)
hACVRL1/var:A482V
Yes
organism-sequence


PR:000000353 serine/threonine-protein kinase receptor R3 sequence variant R484W (human)
hACVRL1/var:R484W
Yes
organism-sequence


PR:000000354 serine/threonine-protein kinase receptor R3 sequence variant K487T (human)
hACVRL1/var:K487T
Yes
organism-sequence


PR:000000355 serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human)
hACVRL1/var:GA48/49EP
Yes
organism-sequence


PR:000000356 serine/threonine-protein kinase receptor R3 sequence variant R67W (human)
hACVRL1/var:R67W
Yes
organism-sequence


PR:000000357 serine/threonine-protein kinase receptor R3 sequence variant C77W (human)
hACVRL1/var:C77W
Yes
organism-sequence


PR:000000358 serine/threonine-protein kinase receptor R3 sequence variant N96D (human)
hACVRL1/var:N96D
Yes
organism-sequence


PR:000000359 serine/threonine-protein kinase receptor R3 sequence variant D179A (human)
hACVRL1/var:D179A
Yes
organism-sequence


PR:000000360 serine/threonine-protein kinase receptor R3 sequence variant G211D (human)
hACVRL1/var:G211D
Yes
organism-sequence


PR:P37023-1 serine/threonine-protein kinase receptor R3 isoform 1 (human)
hACVRL1/iso:1
Yes
organism-modification


PR:000064347 serine/threonine-protein kinase receptor R3, signal peptide removed form (human)
hACVRL1/SigPep-

organism-modification


PR:000067378 serine/threonine-protein kinase receptor R3 deaminated 1 (human)
hACVRL1/Deam:1

organism-gene


PR:P80203 serine/threonine-protein kinase receptor R3 (rat)
rACVRL1

organism-gene


PR:Q61288 serine/threonine-protein kinase receptor R3 (mouse)
mACVRL1

organism-sequence


PR:Q61288-1 serine/threonine-protein kinase receptor R3 isoform 1 (mouse)
mACVRL1/iso:1
Yes
sequence


PR:000000316 serine/threonine-protein kinase receptor R3 isoform 1
ACVRL1/iso:1

organism-sequence


PR:P37023-1 serine/threonine-protein kinase receptor R3 isoform 1 (human)
hACVRL1/iso:1
Yes
organism-sequence


PR:Q61288-1 serine/threonine-protein kinase receptor R3 isoform 1 (mouse)
mACVRL1/iso:1
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