Display Settings:

Format

Send to:

Choose Destination

ACVR1 activin A receptor, type I [ Homo sapiens (human) ]

Gene ID: 90, updated on 26-Aug-2014
Official Symbol
ACVR1provided by HGNC
Official Full Name
activin A receptor, type Iprovided by HGNC
Primary source
HGNC:171
See related
Ensembl:ENSG00000115170; HPRD:00021; MIM:102576; Vega:OTTHUMG00000131967
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2
Summary
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
See ACVR1 in Epigenomics, MapViewer
Location:
2q23-q24
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (157736446..157875862, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158592958..158732374, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytohesin 1 interacting protein Neighboring gene activin A receptor, type IC Neighboring gene metastasis associated 1 family, member 3 pseudogene Neighboring gene uridine phosphorylase 2 Neighboring gene protein tyrosine phosphatase type IVA, member 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
activin binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to activin receptor activity, type I IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peptide hormone binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor signaling protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor activity, type I IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein serine/threonine kinase activity RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acute inflammatory response IEA
Inferred from Electronic Annotation
more info
 
atrial septum primum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocardial cushion cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
gastrulation with mouth forming second IEA
Inferred from Electronic Annotation
more info
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
mitral valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
patterning of blood vessels IEA
Inferred from Electronic Annotation
more info
 
peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
pharyngeal system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of determination of dorsal identity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
signal transduction by phosphorylation IEA
Inferred from Electronic Annotation
more info
 
smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
urogenital system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
activin receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
activin receptor type-1
Names
activin receptor type-1
activin receptor type I
hydroxyalkyl-protein kinase
activin receptor-like kinase 2
TGF-B superfamily receptor type I
activin A receptor, type II-like kinase 2
serine/threonine-protein kinase receptor R1
NP_001096.1
NP_001104537.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008004.1 

    Range
    4250..143666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001105.4NP_001096.1  activin receptor type-1 precursor

    See proteins identical to NP_001096.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC013731, BC033867, L02911
    Consensus CDS
    CCDS2206.1
    UniProtKB/TrEMBL
    D3DPA4
    UniProtKB/Swiss-Prot
    Q04771
    Related
    ENSP00000263640, OTTHUMP00000162806, ENST00000263640, OTTHUMT00000254927
    Conserved Domains (4) summary
    cd00180
    Location:214413
    Blast Score: 385
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:208493
    Blast Score: 583
    Pkinase; Protein kinase domain
    pfam01064
    Location:33104
    Blast Score: 162
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178206
    Blast Score: 161
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_001111067.2NP_001104537.1  activin receptor type-1 precursor

    See proteins identical to NP_001104537.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC013731, BC033867, DA796090, L02911
    Consensus CDS
    CCDS2206.1
    UniProtKB/TrEMBL
    D3DPA4
    UniProtKB/Swiss-Prot
    Q04771
    Related
    ENSP00000405004, ENST00000434821
    Conserved Domains (4) summary
    cd00180
    Location:214413
    Blast Score: 385
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:208493
    Blast Score: 583
    Pkinase; Protein kinase domain
    pfam01064
    Location:33104
    Blast Score: 162
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178206
    Blast Score: 161
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    157736446..157875862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246939.1XP_005246996.1  

    See proteins identical to XP_005246996.1

    UniProtKB/TrEMBL
    D3DPA4
    UniProtKB/Swiss-Prot
    Q04771
    Conserved Domains (4) summary
    cd00180
    Location:214413
    Blast Score: 385
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:208493
    Blast Score: 583
    Pkinase; Protein kinase domain
    pfam01064
    Location:33104
    Blast Score: 162
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178206
    Blast Score: 161
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. XM_005246940.1XP_005246997.1  

    See proteins identical to XP_005246997.1

    UniProtKB/TrEMBL
    D3DPA4
    UniProtKB/Swiss-Prot
    Q04771
    Conserved Domains (4) summary
    cd00180
    Location:214413
    Blast Score: 385
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:208493
    Blast Score: 583
    Pkinase; Protein kinase domain
    pfam01064
    Location:33104
    Blast Score: 162
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178206
    Blast Score: 161
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. XM_006712825.1XP_006712888.1  

    See proteins identical to XP_006712888.1

    UniProtKB/TrEMBL
    D3DPA4
    UniProtKB/Swiss-Prot
    Q04771
    Related
    ENSP00000387273, OTTHUMP00000204626, ENST00000409283, OTTHUMT00000332969
    Conserved Domains (4) summary
    cd00180
    Location:214413
    Blast Score: 385
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:208493
    Blast Score: 583
    Pkinase; Protein kinase domain
    pfam01064
    Location:33104
    Blast Score: 162
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178206
    Blast Score: 161
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    150478249..150616526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    158598894..158738243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)