Entity Details

Primary name ACVR1
Entity type gene
Source Source Link

Details

PrimaryID90
RefseqGeneNG_008004
SymbolACVR1
Nameactivin A receptor type 1
Chromosome2
Location2q24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsACVR1_HUMAN

GO terms

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GOName
GO:0000082 G1/S transition of mitotic cell cycle
GO:0001525 angiogenesis
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001701 in utero embryonic development
GO:0001702 gastrulation with mouth forming second
GO:0001707 mesoderm formation
GO:0001755 neural crest cell migration
GO:0002526 acute inflammatory response
GO:0003143 embryonic heart tube morphogenesis
GO:0003181 atrioventricular valve morphogenesis
GO:0003183 mitral valve morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003274 endocardial cushion fusion
GO:0003289 atrial septum primum morphogenesis
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006468 protein phosphorylation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007281 germ cell development
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0009953 dorsal/ventral pattern formation
GO:0009968 negative regulation of signal transduction
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016361 activin receptor activity, type I
GO:0017046 peptide hormone binding
GO:0018107 peptidyl-threonine phosphorylation
GO:0030278 regulation of ossification
GO:0030335 positive regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0032926 negative regulation of activin receptor signaling pathway
GO:0042803 protein homodimerization activity
GO:0043235 receptor complex
GO:0045177 apical part of cell
GO:0045296 cadherin binding
GO:0045669 positive regulation of osteoblast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048179 activin receptor complex
GO:0048185 activin binding
GO:0050431 transforming growth factor beta binding
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051145 smooth muscle cell differentiation
GO:0060037 pharyngeal system development
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060412 ventricular septum morphogenesis
GO:0060923 cardiac muscle cell fate commitment
GO:0061312 BMP signaling pathway involved in heart development
GO:0061445 endocardial cushion cell fate commitment
GO:0070724 BMP receptor complex
GO:0071363 cellular response to growth factor stimulus
GO:0071773 cellular response to BMP stimulus
GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
GO:1990782 protein tyrosine kinase binding
GO:2000017 positive regulation of determination of dorsal identity
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway

Diseases

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Disease IDSourceNameDescription
135100 OMIMFibrodysplasia ossificans progressiva (FOP)A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. The disease is caused by variants affecting the gene represented in this entry.

Interactions

96 interactions

InteractorPartnerSourcesPublicationsLink
ACVR1TGFBR1HPRD, IntAct15761153 24658140 details
ACVR1BMPR2BioGRID, IntAct28514442 7791754 7890683 details
ACVR1BMPR1ABioGRID, IntAct18436533 26186194 28514442 details
ACVR1FNTABioGRID, HPRD8599089 details
ACVR1BMP7BioGRID, HPRD18070108 8006002 details
ACVR1SMAD1BioGRID, HPRD10085121 10583507 10652350 28847510 9136927 9748228 details
ACVR1TGFBR2BioGRID7890683 details
ACVR1BAMBIBioGRID19758997 details
ACVR1ACVR1BioGRID18436533 details
ACVR1OTUB1BioGRID25872870 details
ACVR1FBXO7BioGRID27503909 details
ACVR1TDGF1BioGRID28126904 details
ACVR1BMP6BioGRID18070108 details
ACVR1GDF2BioGRID17311849 details
ACVR1STIP1BioGRID22884369 details
ACVR1RXRAHPRD9267036 details
ACVR1THRBHPRD9267036 details
ACVR1VDRHPRD9267036 details
ACVR1GDF5BioGRID, HPRD8702914 details
ACVR1ENGBioGRID, HPRD9872992 details
ACVR1SMAD5BioGRID, HPRD10583507 10652350 9748228 details
ACVR1ACVR1BBioGRID26186194 8612709 details
ACVR1TSC22D1BioGRID21791611 details
ACVR1IGSF1BioGRID, HPRD11266516 details
ACVR1SMURF1BioGRID12857866 31685442 details
ACVR1SMAD6BioGRID20663871 23455153 details
ACVR1SMAD7BioGRID20663871 details
ACVR1PEG10BioGRID15611116 details
ACVR1INHBABioGRID, HPRD11266516 8242742 details
ACVR1ACVR2ABioGRID8242742 details
ACVR1USP15BioGRID24850914 details
ACVR1RGMBBioGRID15671031 details
ACVR1FKBP1ABioGRID22977237 details
ACVR1PSMD14BioGRID31685442 details
ACVR1STUB1BioGRID31685442 details
ACVR1BMP2HPRD8006002 details
ACVR1INHBBHPRD11266516 details
ACVR1INHBCHPRD12651901 details
ACVR1SMAD9HPRD10583507 details
ACVR1CREBBPHPRD9267036 details
ACVR1AP2B1HPRD15761153 details
ACVR1CHN1HPRD15761153 details
ACVR1DUSP13HPRD15761153 details
ACVR1FANCLHPRD15761153 details
ACVR1FBXO30HPRD15761153 details
ACVR1FCHO1HPRD15761153 details
ACVR1FGD6HPRD15761153 details
ACVR1FKBP4HPRD15761153 details
ACVR1IKBKBHPRD15761153 details
ACVR1DCAF6HPRD15761153 details
ACVR1NEK8HPRD15761153 details
ACVR1NKIRAS1HPRD15761153 details
ACVR1NRASHPRD15761153 details
ACVR1NUAK2HPRD15761153 details
ACVR1PAK1HPRD15761153 details
ACVR1CDK14HPRD15761153 details
ACVR1PLEKHPRD15761153 details
ACVR1PLEKHB1HPRD15761153 details
ACVR1PLEKHJ1HPRD15761153 details
ACVR1RAB17HPRD15761153 details
ACVR1RAB25HPRD15761153 details
ACVR1RAB33BHPRD15761153 details
ACVR1RAB3BHPRD15761153 details
ACVR1RAB6BHPRD15761153 details
ACVR1RAP2AHPRD15761153 details
ACVR1RASD2HPRD15761153 details
ACVR1RASL12HPRD15761153 details
ACVR1RHEBL1HPRD15761153 details
ACVR1RHODHPRD15761153 details
ACVR1RHOJHPRD15761153 details
ACVR1RPS27AHPRD15761153 details
ACVR1RRAS2HPRD15761153 details
ACVR1SOCS6HPRD15761153 details
ACVR1STX8HPRD15761153 details
ACVR1TTC17HPRD15761153 details
ACVR1UBA52HPRD15761153 details
ACVR1UBE2E3HPRD15761153 details
ACVR1USP39HPRD15761153 details
ACVR1VEPH1HPRD15761153 details
ACVR1WDR61HPRD15761153 details
ACVR1KLHL35HPRD15761153 details
ACVR1UBXN1HPRD15761153 details
ACVR1TTC27HPRD15761153 details
ACVR1TNFRSF10ABioGRID, IntAct28514442 details
ACVR1MRAP2BioGRID, IntAct28514442 details
ACVR1LRRIQ1BioGRID, IntAct28514442 details
ACVR1ACVRL1BioGRID, IntAct26186194 28514442 details
ACVR1CD320BioGRID, IntAct28514442 details
ACVR1ARV1BioGRID, IntAct26186194 28514442 details
ACVR1GRAMD1ABioGRID, IntAct26186194 28514442 details
ACVR1TGFBRAP1BioGRID, IntAct26186194 28514442 details
ACVR1RNF149BioGRID, IntAct26186194 28514442 details
ACVR1CD9UniProt26686862 details
ACVR1MED16BioGRID26186194 details
ACVR1RNF4BioGRID29180619 details
ACVR1VIRMABioGRID29507755 details