AutismKB 2.0

Annotation Details for ACVR1


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Basic Information Top
Gene Symbol:ACVR1 ( ACTRI,ACVR1A,ACVRLK2,ALK2,FOP,SKR1,TSRI )
Gene Full Name: activin A receptor, type I
Band: 2q24.1
Quick LinksEntrez ID:90; OMIM: 102576; Uniprot ID:ACVR1_HUMAN; ENSEMBL ID: ENSG00000115170; HGNC ID: 171
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005887IDA-integral component of plasma membrane8242742
GO:0045177IEA-apical part of cell-
GO:0048179IDA-activin receptor complex8242742
GO ID Evidence Qualifier GO_term References
GO:0004672IDA-protein kinase activity19736306
GO:0004674IDA-protein serine/threonine kinase activity12065756
GO:0004675NAS-transmembrane receptor protein serine/threonine kinase activity8242742
GO:0004702IEA-signal transducer, downstream of receptor, with serine/threonine kinase activity-
GO:0005025IEA-transforming growth factor beta receptor activity, type I-
GO:0005515IPI-protein binding8242742
GO:0005524IDA-ATP binding12065756
GO:0016361IDAcontributes_toactivin receptor activity, type I8242742
GO:0017046NAS-peptide hormone binding12702211
GO:0042803IDA-protein homodimerization activity18436533
GO:0046332IDA-SMAD binding12065756
GO:0046872IEA-metal ion binding-
GO:0048185IDA-activin binding8242742
GO:0050431IDA-transforming growth factor beta binding8242742
GO ID Evidence Qualifier GO_term References
GO:0000082IMP-G1/S transition of mitotic cell cycle9884026
GO:0001569IEA-branching involved in blood vessel morphogenesis-
GO:0001701IEA-in utero embryonic development-
GO:0001702IEA-gastrulation with mouth forming second-
GO:0001707IEA-mesoderm formation-
GO:0001755IEA-neural crest cell migration-
GO:0002526IEA-acute inflammatory response-
GO:0003143IMP-embryonic heart tube morphogenesis19506109
GO:0003148ISSNOToutflow tract septum morphogenesis-
GO:0003181ISS-atrioventricular valve morphogenesis-
GO:0003183IMP-mitral valve morphogenesis19506109
GO:0003203ISS-endocardial cushion morphogenesis-
GO:0003274ISS-endocardial cushion fusion-
GO:0003289IMP-atrial septum primum morphogenesis19506109
GO:0003289ISS-atrial septum primum morphogenesis-
GO:0006468IDA-protein phosphorylation12065756
GO:0007179IDA-transforming growth factor beta receptor signaling pathway8242742
GO:0007281IEA-germ cell development-
GO:0007368IEA-determination of left/right symmetry-
GO:0009968IMP-negative regulation of signal transduction9884026
GO:0010862IDA-positive regulation of pathway-restricted SMAD protein phosphorylation19506109
GO:0010862ISS-positive regulation of pathway-restricted SMAD protein phosphorylation-
GO:0018107IDA-peptidyl-threonine phosphorylation19736306
GO:0023014IEA-signal transduction by protein phosphorylation-
GO:0030278IMP-regulation of ossification16642017
GO:0030335IGI-positive regulation of cell migration19736306
GO:0030501IMP-positive regulation of bone mineralization18436533
GO:0030509IDA-BMP signaling pathway18436533
GO:0032924IDA-activin receptor signaling pathway19506109
GO:0032924IMP-activin receptor signaling pathway18326817
GO:0032926IMP-negative regulation of activin receptor signaling pathway9884026
GO:0045669IMP-positive regulation of osteoblast differentiation18436533
GO:0045893IDA-positive regulation of transcription, DNA-templated8242742
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter19506109
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter18326817
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter-
GO:0051145IEA-smooth muscle cell differentiation-
GO:0060037IEA-pharyngeal system development-
GO:0060389IDA-pathway-restricted SMAD protein phosphorylation19736306
GO:0060412ISS-ventricular septum morphogenesis-
GO:0060923IMP-cardiac muscle cell fate commitment19506109
GO:0061312ISS-BMP signaling pathway involved in heart development-
GO:0061445IMP-endocardial cushion cell fate commitment19506109
GO:0071773IMP-cellular response to BMP stimulus18326817
GO:1905007ISS-positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation-
GO:2000017IDA-positive regulation of determination of dorsal identity19506109
GO:2001237IMP-negative regulation of extrinsic apoptotic signaling pathway9884026
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BMPR2ACVR11071277791754 7890683 Affinity Capture-Western; Two-hybrid
BMPR2ACVR11066057791754 7890683 Affinity Capture-Western; Two-hybrid
TGFBR2ACVR11129067890683 Two-hybrid
TGFBR2ACVR11066057890683 Two-hybrid
BMP7ACVR11071238006002 Reconstituted Complex
BMP7ACVR11066058006002 Reconstituted Complex
FNTAACVR11086258599089 Two-hybrid
FNTAACVR11066058599089 Two-hybrid
ACVR1BACVR11066068612709 Affinity Capture-Western
ACVR1BACVR11066058612709 Affinity Capture-Western
GDF5ACVR11138398702914 Affinity Capture-Western
GDF5ACVR11066058702914 Affinity Capture-Western
SMAD1ACVR11102619748228 10652350 Affinity Capture-Western
SMAD1ACVR11066059748228 10652350 Affinity Capture-Western
SMAD5ACVR11102659748228 10652350 Affinity Capture-Western
SMAD5ACVR11066059748228 10652350 Affinity Capture-Western
ENGACVR11066059872992 Affinity Capture-Western
ENGACVR11083379872992 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:87911
  • Data Attributes: MGI curated and HomoloGene calculated
No data