Entity Details

Primary name ACVR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ04771
EntryNameACVR1_HUMAN
FullNameActivin receptor type-1
TaxID9606
Evidenceevidence at protein level
Length509
SequenceStatuscomplete
DateCreated1994-02-01
DateModified2021-06-02

Ontological Relatives

GenesACVR1

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

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR000333 Ser/Thr protein kinase, TGFB receptorFamilyFamily
IPR000472 Activin types I and II receptor domainDomainDomain
IPR000719 Protein kinase domainDomainDomain
IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domainDomainDomain
IPR003605 GS domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

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.

Drugs

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DrugNameSourceType
DB00171 ATPDrugbanksmall molecule
DB08597 DorsomorphinDrugbanksmall molecule
DB12010 FostamatinibDrugbanksmall molecule

Interactions

83 interactions

InteractorPartnerSourcesPublicationsLink
ACVR1_HUMANTGFR1_HUMANHPRD, IntAct15761153 24658140 details
ACVR1_HUMANBMPR2_HUMANBioGRID, IntAct28514442 7791754 7890683 details
ACVR1_HUMANBMR1A_HUMANBioGRID, IntAct18436533 26186194 28514442 details
ACVR1_HUMANFNTA_HUMANBioGRID, HPRD8599089 details
ACVR1_HUMANBMP7_HUMANBioGRID, HPRD18070108 8006002 details
ACVR1_HUMANSMAD1_HUMANBioGRID, HPRD10085121 10583507 10652350 28847510 9136927 9748228 details
ACVR1_HUMANTGFR2_HUMANBioGRID7890683 details
ACVR1_HUMANBAMBI_HUMANBioGRID19758997 details
ACVR1_HUMANACVR1_HUMANBioGRID18436533 details
ACVR1_HUMANOTUB1_HUMANBioGRID25872870 details
ACVR1_HUMANFBX7_HUMANBioGRID27503909 details
ACVR1_HUMANTDGF1_HUMANBioGRID28126904 details
ACVR1_HUMANBMP6_HUMANBioGRID18070108 details
ACVR1_HUMANGDF2_HUMANBioGRID17311849 details
ACVR1_HUMANSTIP1_HUMANBioGRID22884369 details
ACVR1_HUMANRXRA_HUMANHPRD9267036 details
ACVR1_HUMANTHB_HUMANHPRD9267036 details
ACVR1_HUMANVDR_HUMANHPRD9267036 details
ACVR1_HUMANGDF5_HUMANBioGRID, HPRD8702914 details
ACVR1_HUMANEGLN_HUMANBioGRID, HPRD9872992 details
ACVR1_HUMANSMAD5_HUMANBioGRID, HPRD10583507 10652350 9748228 details
ACVR1_HUMANACV1B_HUMANBioGRID26186194 8612709 details
ACVR1_HUMANT22D1_HUMANBioGRID21791611 details
ACVR1_HUMANIGSF1_HUMANBioGRID, HPRD11266516 details
ACVR1_HUMANSMUF1_HUMANBioGRID12857866 31685442 details
ACVR1_HUMANSMAD6_HUMANBioGRID20663871 23455153 details
ACVR1_HUMANSMAD7_HUMANBioGRID20663871 details
ACVR1_HUMANPEG10_HUMANBioGRID15611116 details
ACVR1_HUMANINHBA_HUMANBioGRID, HPRD11266516 8242742 details
ACVR1_HUMANAVR2A_HUMANBioGRID8242742 details
ACVR1_HUMANUBP15_HUMANBioGRID24850914 details
ACVR1_HUMANRGMB_HUMANBioGRID15671031 details
ACVR1_HUMANFKB1A_HUMANBioGRID22977237 details
ACVR1_HUMANPSDE_HUMANBioGRID31685442 details
ACVR1_HUMANCHIP_HUMANBioGRID31685442 details
ACVR1_HUMANBMP2_HUMANHPRD8006002 details
ACVR1_HUMANINHBB_HUMANHPRD11266516 details
ACVR1_HUMANINHBC_HUMANHPRD12651901 details
ACVR1_HUMANSMAD9_HUMANHPRD10583507 details
ACVR1_HUMANCBP_HUMANHPRD9267036 details
ACVR1_HUMANAP2B1_HUMANHPRD15761153 details
ACVR1_HUMANCHIN_HUMANHPRD15761153 details
ACVR1_HUMANDS13A_HUMANHPRD15761153 details
ACVR1_HUMANFANCL_HUMANHPRD15761153 details
ACVR1_HUMANFBX30_HUMANHPRD15761153 details
ACVR1_HUMANFCHO1_HUMANHPRD15761153 details
ACVR1_HUMANFGD6_HUMANHPRD15761153 details
ACVR1_HUMANFKBP4_HUMANHPRD15761153 details
ACVR1_HUMANIKKB_HUMANHPRD15761153 details
ACVR1_HUMANDCAF6_HUMANHPRD15761153 details
ACVR1_HUMANNEK8_HUMANHPRD15761153 details
ACVR1_HUMANKBRS1_HUMANHPRD15761153 details
ACVR1_HUMANRASN_HUMANHPRD15761153 details
ACVR1_HUMANNUAK2_HUMANHPRD15761153 details
ACVR1_HUMANPAK1_HUMANHPRD15761153 details
ACVR1_HUMANCDK14_HUMANHPRD15761153 details
ACVR1_HUMANPLEK_HUMANHPRD15761153 details
ACVR1_HUMANPKHB1_HUMANHPRD15761153 details
ACVR1_HUMANPKHJ1_HUMANHPRD15761153 details
ACVR1_HUMANRAB17_HUMANHPRD15761153 details
ACVR1_HUMANRAB25_HUMANHPRD15761153 details
ACVR1_HUMANRB33B_HUMANHPRD15761153 details
ACVR1_HUMANRAB3B_HUMANHPRD15761153 details
ACVR1_HUMANRAB6B_HUMANHPRD15761153 details
ACVR1_HUMANRAP2A_HUMANHPRD15761153 details
ACVR1_HUMANRHES_HUMANHPRD15761153 details
ACVR1_HUMANRASLC_HUMANHPRD15761153 details
ACVR1_HUMANREBL1_HUMANHPRD15761153 details
ACVR1_HUMANRHOD_HUMANHPRD15761153 details
ACVR1_HUMANRHOJ_HUMANHPRD15761153 details
ACVR1_HUMANRS27A_HUMANHPRD15761153 details
ACVR1_HUMANRRAS2_HUMANHPRD15761153 details
ACVR1_HUMANSOCS6_HUMANHPRD15761153 details
ACVR1_HUMANSTX8_HUMANHPRD15761153 details
ACVR1_HUMANTTC17_HUMANHPRD15761153 details
ACVR1_HUMANRL40_HUMANHPRD15761153 details
ACVR1_HUMANUB2E3_HUMANHPRD15761153 details
ACVR1_HUMANSNUT2_HUMANHPRD15761153 details
ACVR1_HUMANMELT_HUMANHPRD15761153 details
ACVR1_HUMANWDR61_HUMANHPRD15761153 details
ACVR1_HUMANKLH35_HUMANHPRD15761153 details
ACVR1_HUMANUBXN1_HUMANHPRD15761153 details
ACVR1_HUMANTTC27_HUMANHPRD15761153 details