ACVR1 | ENSG00000115170 | NCBI 90

Details for: ACVR1

Gene ID: 90

Symbol: ACVR1

Ensembl ID: ENSG00000115170

Description: activin A receptor type 1

Associated with

Activin binding
(GO:0048185)
Activin receptor activity, type i
(GO:0016361)
Activin receptor complex
(GO:0048179)
Activin receptor signaling pathway
(GO:0032924)
Acute inflammatory response
(GO:0002526)
Apical part of cell
(GO:0045177)
Atp binding
(GO:0005524)
Atrial septum primum morphogenesis
(GO:0003289)
Atrioventricular valve morphogenesis
(GO:0003181)
Bmp receptor activity
(GO:0098821)
Bmp receptor complex
(GO:0070724)
Bmp signaling pathway
(GO:0030509)
Branching involved in blood vessel morphogenesis
(GO:0001569)
Cadherin binding
(GO:0045296)
Cardiac muscle cell fate commitment
(GO:0060923)
Cellular response to bmp stimulus
(GO:0071773)
Cellular response to growth factor stimulus
(GO:0071363)
Determination of left/right symmetry
(GO:0007368)
Dorsal/ventral pattern formation
(GO:0009953)
Embryonic heart tube morphogenesis
(GO:0003143)
Endocardial cushion cell fate commitment
(GO:0061445)
Endocardial cushion formation
(GO:0003272)
Endocardial cushion fusion
(GO:0003274)
Gastrulation with mouth forming second
(GO:0001702)
Germ cell development
(GO:0007281)
Heart development
(GO:0007507)
In utero embryonic development
(GO:0001701)
Mesoderm formation
(GO:0001707)
Metal ion binding
(GO:0046872)
Mitral valve morphogenesis
(GO:0003183)
Negative regulation of activin receptor signaling pathway
(GO:0032926)
Negative regulation of extrinsic apoptotic signaling pathway
(GO:2001237)
Negative regulation of g1/s transition of mitotic cell cycle
(GO:2000134)
Negative regulation of signal transduction
(GO:0009968)
Neural crest cell migration
(GO:0001755)
Outflow tract septum morphogenesis
(GO:0003148)
Peptide hormone binding
(GO:0017046)
Pharyngeal system development
(GO:0060037)
Phosphorylation
(GO:0016310)
Plasma membrane
(GO:0005886)
Positive regulation of bone mineralization
(GO:0030501)
Positive regulation of cardiac epithelial to mesenchymal transition
(GO:0062043)
Positive regulation of cell migration
(GO:0030335)
Positive regulation of determination of dorsal identity
(GO:2000017)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of osteoblast differentiation
(GO:0045669)
Positive regulation of peptidyl-tyrosine phosphorylation
(GO:0050731)
Positive regulation of smad protein signal transduction
(GO:0060391)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Protein kinase activity
(GO:0004672)
Protein phosphorylation
(GO:0006468)
Protein serine/threonine kinase activity
(GO:0004674)
Protein tyrosine kinase binding
(GO:1990782)
Regulation of ossification
(GO:0030278)
Smad binding
(GO:0046332)
Smooth muscle cell differentiation
(GO:0051145)
Transforming growth factor beta binding
(GO:0050431)
Transforming growth factor beta receptor activity, type i
(GO:0005025)
Transforming growth factor beta receptor signaling pathway
(GO:0007179)
Transmembrane receptor protein serine/threonine kinase activity
(GO:0004675)
Ventricular septum morphogenesis
(GO:0060412)

Other Information

Proteins

Activin receptor type-1

Genular Protein ID: 2156630960

Symbol: ACVR1_HUMAN

Name: Activin receptor type-1

UniProtKB Accession Codes:

Q04771

Database IDs:

Citations:

PubMed ID: 8389764

Title: A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor.

PubMed ID: 8389764

DOI: 10.1016/s0021-9258(18)31447-9

PubMed ID: 8397373

Title: Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.

PubMed ID: 8397373

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8555189

Title: Interaction of transforming growth factor beta receptors with apolipoprotein J/clusterin.

PubMed ID: 8555189

DOI: 10.1021/bi951880a

PubMed ID: 9748228

Title: Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2.

PubMed ID: 9748228

DOI: 10.1074/jbc.273.40.25628

PubMed ID: 17911401

Title: Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor.

PubMed ID: 17911401

DOI: 10.1677/joe-07-0281

PubMed ID: 18070108

Title: Type I receptor binding of bone morphogenetic protein 6 is dependent on N-glycosylation of the ligand.

PubMed ID: 18070108

DOI: 10.1111/j.1742-4658.2007.06187.x

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 20628059

Title: TGFbeta/BMP type I receptors ALK1 and ALK2 are essential for BMP9-induced osteogenic signaling in mesenchymal stem cells.

PubMed ID: 20628059

DOI: 10.1074/jbc.m110.130518

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 22484487

Title: Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning.

PubMed ID: 22484487

DOI: 10.1038/ncb2473

PubMed ID: 25354296

Title: Mutant activin-like kinase 2 in fibrodysplasia ossificans progressiva are activated via T203 by BMP type II receptors.

PubMed ID: 25354296

DOI: 10.1210/me.2014-1301

PubMed ID: 31800957

Title: Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3.

PubMed ID: 31800957

DOI: 10.1182/blood.2019002620

PubMed ID: 22977237

Title: Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.

PubMed ID: 22977237

DOI: 10.1074/jbc.m112.365932

PubMed ID: 16642017

Title: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

PubMed ID: 16642017

DOI: 10.1038/ng1783

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19085907

Title: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PubMed ID: 19085907

DOI: 10.1002/humu.20868

PubMed ID: 19330033

Title: Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

PubMed ID: 19330033

DOI: 10.1371/journal.pone.0005005

Sequence Information:

Length: 509
Mass: 57153
Checksum: E2B0F051D19DD052
Sequence:

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN 
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF 
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL 
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR 
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL 
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM 
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS 
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ 
NPSARLTALR IKKTLTKIDN SLDKLKTDC

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACVR1

Associated with

Other Information

A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. PubMed ID: 8389764

Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. PubMed ID: 8397373

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Interaction of transforming growth factor beta receptors with apolipoprotein J/clusterin. PubMed ID: 8555189

Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2. PubMed ID: 9748228

Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor. PubMed ID: 17911401

Type I receptor binding of bone morphogenetic protein 6 is dependent on N-glycosylation of the ligand. PubMed ID: 18070108

Large-scale proteomics analysis of the human kinome. PubMed ID: 19369195

TGFbeta/BMP type I receptors ALK1 and ALK2 are essential for BMP9-induced osteogenic signaling in mesenchymal stem cells. PubMed ID: 20628059

TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity. PubMed ID: 21791611

Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning. PubMed ID: 22484487

Mutant activin-like kinase 2 in fibrodysplasia ossificans progressiva are activated via T203 by BMP type II receptors. PubMed ID: 25354296

Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3. PubMed ID: 31800957

Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. PubMed ID: 22977237

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. PubMed ID: 16642017

Patterns of somatic mutation in human cancer genomes. PubMed ID: 17344846

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. PubMed ID: 19085907

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PubMed ID: 19330033