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Protein Ontology Report - hACVRL1

PR:P37023 - http://purl.obolibrary.org/obo/PR_P37023
This page represents a class of proteins encompassing all the protein products of the ACVRL1 gene in Homo sapiens.
Ontology Information
PRO ID PR:P37023 Show OBO stanza / PAF / GPI
PRO name serine/threonine-protein kinase receptor R3 (human)
Synonyms
PRO-short-label: EXACT: hACVRL1
Gene-based: RELATED: ACVRL1 | ACVRLK1 | ALK1
Other: EXACT: ALK-1 (human) | SKR3 (human) | activin receptor-like kinase 1 (human)
BROAD: TGF-B superfamily receptor type I (human) | TSR-I (human)
Definition A serine/threonine-protein kinase receptor R3 that is encoded in the genome of human. [PRO:CNA, UniProtKB:P37023]
PRO Category organism-gene
Parent PR:000000126 serine/threonine-protein kinase receptor R3
Gene Template HGNC:175 ACVRL1
Taxon NCBITaxon:9606 Homo sapiens
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Specific
Category Number of Terms
organism-gene 1
organism-sequence 45
organism-modification 0
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:P37023-1
hACVRL1/iso:1
acts_upstream_of_or_within GO:0008015 blood circulation PMID:9245985
acts_upstream_of_or_within GO:0006468 protein phosphorylation PMID:9920917
acts_upstream_of_or_within GO:0001525 angiogenesis PMID:12453878
enables GO:0016361 activin receptor activity, type I PMID:8242742
enables GO:0050431 transforming growth factor beta binding PMID:8242742
enables GO:0046332 SMAD binding PMID:9920917
enables GO:0005025 transforming growth factor beta receptor activity, type I PMID:8242742
enables GO:0048185 activin binding PMID:8242742
enables GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:8242742, PMID:9245985
located_in GO:0009986 cell surface PMID:8242742
located_in GO:0005886 plasma membrane PMID:8242742, PMID:8397373
PR:000000338
hACVRL1/var:D397G
Asp-397, CHEBI:29947 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000339
hACVRL1/var:C51Y
Cys-51, CHEBI:46858 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11170071
PR:000000336
hACVRL1/var:E379K
Glu-379, CHEBI:29967 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723, PMID:15712270
PR:000000337
hACVRL1/var:M376R
Met-376, CHEBI:29952 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:8640225
PR:000000334
hACVRL1/var:R374W
Arg-374, CHEBI:29954 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985
PR:000000335
hACVRL1/var:P378L
Pro-378, CHEBI:30006 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000332
hACVRL1/var:A347P
Ala-347, CHEBI:50342 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000333
hACVRL1/var:R374Q
Arg-374, CHEBI:30011 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682, PMID:15024723
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000330
hACVRL1/var:L337P
Leu-337, CHEBI:50342 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000331
hACVRL1/var:C344Y
Cys-344, CHEBI:46858 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10767348, PMID:14684682
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000358
hACVRL1/var:N96D
Asn-96, CHEBI:29958 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10694922
PR:000000359
hACVRL1/var:D179A
Asp-179, CHEBI:46217 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682
located_in GO:0009986 cell surface PMID:14684682
PR:000000317
hACVRL1/var:G48R
Gly-48, CHEBI:29952 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000318
hACVRL1/var:E215K
Glu-215, CHEBI:29967 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000319
hACVRL1/var:H222del
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_006209
located_in GO:0005886 plasma membrane PMID:14684682
PR:000000356
hACVRL1/var:R67W
Arg-67, CHEBI:29954 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15712270
PR:000000357
hACVRL1/var:C77W
Cys-77, CHEBI:29954 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10694922, PMID:14684682
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000350
hACVRL1/var:R67Q
Arg-67, CHEBI:30011 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682, PMID:9245985
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000351
hACVRL1/var:R479L
Arg-479, CHEBI:30006 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000352
hACVRL1/var:A482V
Ala-482, CHEBI:30015 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000353
hACVRL1/var:R484W
Arg-484, CHEBI:29954 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11484689, PMID:15024723
PR:000000354
hACVRL1/var:K487T
Lys-487, CHEBI:30013 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682
located_in GO:0005886 plasma membrane PMID:14684682
PR:000000355
hACVRL1/var:GA48/49EP
Gly-48, CHEBI:29972|Ala-49, CHEBI:46217 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026784
PR:000000329
hACVRL1/var:S333I
Ser-333, CHEBI:30009 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10767348, PMID:14684682, PMID:9245985
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000328
hACVRL1/var:W50C
Trp-50, CHEBI:29950 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10767348, PMID:14684682, PMID:9245985
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000321
hACVRL1/var:G223R
Gly-223, CHEBI:29952 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000320
hACVRL1/var:S233del
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026792
PR:000000323
hACVRL1/var:D254del
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026793
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000322
hACVRL1/var:K229R
Lys-229, CHEBI:29952 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000325
hACVRL1/var:L285F
Leu-285, CHEBI:29997 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000324
hACVRL1/var:M376V
Met-376, CHEBI:30015 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000327
hACVRL1/var:H314Y
His-314, CHEBI:46858 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000326
hACVRL1/var:A306P
Ala-306, CHEBI:50342 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000360
hACVRL1/var:G211D
Gly-211, CHEBI:29958 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000349
hACVRL1/var:F425del
associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026812
PR:000000348
hACVRL1/var:F425V
Phe-425, CHEBI:30015 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15712270
PR:000000347
hACVRL1/var:F425L
Phe-425, CHEBI:30006 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000346
hACVRL1/var:P424T
Pro-424, CHEBI:30013 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:9245985
PR:000000345
hACVRL1/var:R411W
Arg-411, CHEBI:29954 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11484689, PMID:15024723, PMID:15712270
PR:000000344
hACVRL1/var:R411Q
Arg-411, CHEBI:30011 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:14684682, PMID:15024723, PMID:8640225
enables NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_in GO:0005783 endoplasmic reticulum PMID:14684682
PR:000000343
hACVRL1/var:R411P
Arg-411, CHEBI:50342 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723
PR:000000342
hACVRL1/var:E407D
Glu-407, CHEBI:29958 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10767348, PMID:15712270
PR:000000341
hACVRL1/var:W399S
Trp-399, CHEBI:29999 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11170071
PR:000000340
hACVRL1/var:I398N
Ile-398, CHEBI:50347 		associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:11170071
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0009986 cell surface PR:000000359 hACVRL1/var:D179A
Asp-179, CHEBI:46217
PMID:14684682
PR:P37023-1 hACVRL1/iso:1

PMID:8242742
GO:0005886 plasma membrane PR:000000319 hACVRL1/var:H222del

PMID:14684682
PR:000000354 hACVRL1/var:K487T
Lys-487, CHEBI:30013
PMID:14684682
PR:P37023-1 hACVRL1/iso:1

PMID:8242742, PMID:8397373
GO:0005783 endoplasmic reticulum PR:000000323 hACVRL1/var:D254del

PMID:14684682
PR:000000328 hACVRL1/var:W50C
Trp-50, CHEBI:29950
PMID:14684682
PR:000000329 hACVRL1/var:S333I
Ser-333, CHEBI:30009
PMID:14684682
PR:000000331 hACVRL1/var:C344Y
Cys-344, CHEBI:46858
PMID:14684682
PR:000000333 hACVRL1/var:R374Q
Arg-374, CHEBI:30011
PMID:14684682
PR:000000335 hACVRL1/var:P378L
Pro-378, CHEBI:30006
PMID:14684682
PR:000000344 hACVRL1/var:R411Q
Arg-411, CHEBI:30011
PMID:14684682
PR:000000350 hACVRL1/var:R67Q
Arg-67, CHEBI:30011
PMID:14684682
PR:000000357 hACVRL1/var:C77W
Cys-77, CHEBI:29954
PMID:14684682
PR:000000360 hACVRL1/var:G211D
Gly-211, CHEBI:29958
PMID:14684682

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