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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 Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
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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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Biological Process GO Term
Protein Forms & Complexes
Evidence
GO:0001525 angiogenesisPR:P37023-1 hACVRL1/iso:1 PMID:12453878
PR:Q61288-1 mACVRL1/iso:1 PMID:10716993
GO:0006468 protein phosphorylationPR:P37023-1 hACVRL1/iso:1 PMID:9920917
PR:Q61288-1 mACVRL1/iso:1 PMID:14580334
GO:0007179 transforming growth factor beta receptor signaling pathwayPR:Q61288-1 mACVRL1/iso:1 PMID:14580334
GO:0008015 blood circulationPR:P37023-1 hACVRL1/iso:1 PMID:9245985

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:1270 hereditary hemorrhagic telangiectasiaPR:000000317 hACVRL1/var:G48R PMID:15024723
PR:000000318 hACVRL1/var:E215K PMID:15024723
PR:000000319 hACVRL1/var:H222del UniProtKB_VAR:VAR_006209
PR:000000320 hACVRL1/var:S233del UniProtKB_VAR:VAR_026792
PR:000000321 hACVRL1/var:G223R PMID:15024723
PR:000000322 hACVRL1/var:K229R PMID:15024723
PR:000000323 hACVRL1/var:D254del UniProtKB_VAR:VAR_026793
PR:000000324 hACVRL1/var:M376V PMID:15024723
PR:000000325 hACVRL1/var:L285F PMID:15024723
PR:000000326 hACVRL1/var:A306P PMID:15024723
PR:000000327 hACVRL1/var:H314Y PMID:15024723
PR:000000328 hACVRL1/var:W50C PMID:10767348; PMID:14684682; PMID:9245985
PR:000000329 hACVRL1/var:S333I PMID:10767348; PMID:14684682; PMID:9245985
PR:000000330 hACVRL1/var:L337P PMID:15024723
PR:000000331 hACVRL1/var:C344Y PMID:10767348; PMID:14684682
PR:000000332 hACVRL1/var:A347P PMID:15024723
PR:000000333 hACVRL1/var:R374Q PMID:14684682; PMID:15024723
PR:000000334 hACVRL1/var:R374W PMID:11170071; PMID:14684682; PMID:15712270; PMID:9245985
PR:000000335 hACVRL1/var:P378L PMID:14684682
PR:000000336 hACVRL1/var:E379K PMID:15024723; PMID:15712270
PR:000000337 hACVRL1/var:M376R PMID:8640225
PR:000000338 hACVRL1/var:D397G PMID:15024723
PR:000000339 hACVRL1/var:C51Y PMID:11170071
PR:000000340 hACVRL1/var:I398N PMID:11170071
PR:000000341 hACVRL1/var:W399S PMID:11170071
PR:000000342 hACVRL1/var:E407D PMID:10767348; PMID:15712270
PR:000000343 hACVRL1/var:R411P PMID:15024723
PR:000000344 hACVRL1/var:R411Q PMID:14684682; PMID:15024723; PMID:8640225
PR:000000345 hACVRL1/var:R411W PMID:11484689; PMID:15024723; PMID:15712270
PR:000000346 hACVRL1/var:P424T PMID:9245985
PR:000000347 hACVRL1/var:F425L PMID:15024723
PR:000000348 hACVRL1/var:F425V PMID:15712270
PR:000000349 hACVRL1/var:F425del UniProtKB_VAR:VAR_026812
PR:000000350 hACVRL1/var:R67Q PMID:14684682; PMID:9245985
PR:000000351 hACVRL1/var:R479L PMID:15024723
PR:000000352 hACVRL1/var:A482V PMID:15024723
PR:000000353 hACVRL1/var:R484W PMID:11484689; PMID:15024723
PR:000000354 hACVRL1/var:K487T PMID:14684682
PR:000000355 hACVRL1/var:(GA48/49EP) UniProtKB_VAR:VAR_026784
PR:000000356 hACVRL1/var:R67W PMID:15712270
PR:000000357 hACVRL1/var:C77W PMID:10694922; PMID:14684682
PR:000000358 hACVRL1/var:N96D PMID:10694922
PR:000000359 hACVRL1/var:D179A PMID:14684682
PR:000000360 hACVRL1/var:G211D PMID:14684682

Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0004675 transmembrane receptor protein serine/threonine kinase activityPR:P37023-1 hACVRL1/iso:1 PMID:8242742; PMID:9245985
NOT GO:0004675 transmembrane receptor protein serine/threonine kinase activityPR:000000323 hACVRL1/var:D254del PMID:14684682
PR:000000328 hACVRL1/var:W50C PMID:14684682
PR:000000329 hACVRL1/var:S333I PMID:14684682
PR:000000331 hACVRL1/var:C344Y PMID:14684682
PR:000000333 hACVRL1/var:R374Q PMID:14684682
PR:000000335 hACVRL1/var:P378L PMID:14684682
PR:000000344 hACVRL1/var:R411Q PMID:14684682
PR:000000350 hACVRL1/var:R67Q PMID:14684682
PR:000000357 hACVRL1/var:C77W PMID:14684682
PR:000000360 hACVRL1/var:G211D PMID:14684682
GO:0005025 transforming growth factor beta receptor activity, type IPR:P37023-1 hACVRL1/iso:1 PMID:8242742
GO:0016361 activin receptor activity, type IPR:P37023-1 hACVRL1/iso:1 PMID:8242742
GO:0046332 SMAD bindingPR:P37023-1 hACVRL1/iso:1 PMID:9920917
PR:Q61288-1 mACVRL1/iso:1 PMID:14580334
GO:0048185 activin bindingPR:P37023-1 hACVRL1/iso:1 PMID:8242742
GO:0050431 transforming growth factor beta bindingPR:P37023-1 hACVRL1/iso:1 PMID:8242742

Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0005783 endoplasmic reticulumPR:000000323 hACVRL1/var:D254del PMID:14684682
PR:000000328 hACVRL1/var:W50C PMID:14684682
PR:000000329 hACVRL1/var:S333I PMID:14684682
PR:000000331 hACVRL1/var:C344Y PMID:14684682
PR:000000333 hACVRL1/var:R374Q PMID:14684682
PR:000000335 hACVRL1/var:P378L PMID:14684682
PR:000000344 hACVRL1/var:R411Q PMID:14684682
PR:000000350 hACVRL1/var:R67Q PMID:14684682
PR:000000357 hACVRL1/var:C77W PMID:14684682
PR:000000360 hACVRL1/var:G211D PMID:14684682
GO:0005886 plasma membranePR:000000319 hACVRL1/var:H222del PMID:14684682
PR:000000354 hACVRL1/var:K487T PMID:14684682
PR:P37023-1 hACVRL1/iso:1 PMID:8242742; PMID:8397373
GO:0009986 cell surfacePR:000000359 hACVRL1/var:D179A PMID:14684682
PR:P37023-1 hACVRL1/iso:1 PMID:8242742