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ACVR1 activin A receptor type 1 [ Homo sapiens (human) ]

Gene ID: 90, updated on 8-Jul-2018
Official Symbol
ACVR1provided by HGNC
Official Full Name
activin A receptor type 1provided by HGNC
Primary source
HGNC:HGNC:171
See related
Ensembl:ENSG00000115170 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]
Expression
Ubiquitous expression in thyroid (RPKM 15.1), gall bladder (RPKM 9.4) and 23 other tissues See more
Orthologs
See ACVR1 in Genome Data Viewer
Location:
2q24.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (157736446..157875896, 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 activin A receptor type 1C Neighboring gene uncharacterized LOC105373713 Neighboring gene uncharacterized LOC105373714 Neighboring gene RNA, U6 small nuclear 436, pseudogene Neighboring gene metastasis associated 1 family member 3 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of activin A receptor, type I (ACVR1) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

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 
BMP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
activin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin binding IDA
Inferred from Direct Assay
more info
PubMed 
CONTRIBUTES_TO activin receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to activin receptor activity, type I IDA
Inferred from Direct Assay
more info
PubMed 
growth factor binding IBA
Inferred from Biological aspect of Ancestor
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 
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor activity, type I IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway involved in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
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 
atrial septum primum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
branching involved in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
endocardial cushion fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
gastrulation with mouth forming second IEA
Inferred from Electronic Annotation
more info
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
NOT outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
pattern specification process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of determination of dorsal identity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 pathway-restricted SMAD protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
activin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
activin receptor type-1
Names
TGF-B superfamily receptor type I
activin A receptor, type I
activin A receptor, type II-like kinase 2
activin receptor type I
activin receptor-like kinase 2
hydroxyalkyl-protein kinase
serine/threonine-protein kinase receptor R1
NP_001096.1
NP_001104537.1
NP_001334592.1
NP_001334593.1
NP_001334594.1
NP_001334595.1
NP_001334596.1
XP_006712888.1
XP_011510410.1

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 RefSeqGene

    Range
    5001..143666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001096.1

    Status: REVIEWED

    Source sequence(s)
    AC013731, BC033867, L02911
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Related
    ENSP00000263640.3, OTTHUMP00000162806, ENST00000263640.7, OTTHUMT00000254927
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_001111067.2NP_001104537.1  activin receptor type-1 precursor

    See identical proteins and their annotated locations for NP_001104537.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
    Source sequence(s)
    AC013731, BC033867, DA796090, L02911
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Related
    ENSP00000405004.1, ENST00000434821.5
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. NM_001347663.1NP_001334592.1  activin receptor type-1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
    Source sequence(s)
    AC013731, AC019186
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  4. NM_001347664.1NP_001334593.1  activin receptor type-1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
    Source sequence(s)
    AC013731, AC019186
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  5. NM_001347665.1NP_001334594.1  activin receptor type-1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
    Source sequence(s)
    AC013731, AC019186
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  6. NM_001347666.1NP_001334595.1  activin receptor type-1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
    Source sequence(s)
    AC013731, AC019186
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  7. NM_001347667.1NP_001334596.1  activin receptor type-1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has an alternate 5' UTR compared to variant 1. All seven variants encode the same protein.
    Source sequence(s)
    AC013731, AC019186
    Consensus CDS
    CCDS2206.1
    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Related
    ENSP00000387127.2, ENST00000410057.6
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    157736446..157875896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712825.4XP_006712888.1  activin receptor type-1 isoform X1

    See identical proteins and their annotated locations for XP_006712888.1

    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. XM_011512108.3XP_011510410.1  activin receptor type-1 isoform X1

    See identical proteins and their annotated locations for XP_011510410.1

    UniProtKB/Swiss-Prot
    Q04771
    UniProtKB/TrEMBL
    D3DPA4
    Conserved Domains (3) summary
    cd14142
    Location:202499
    STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1
    pfam01064
    Location:33103
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:179206
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
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