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

    Gene ID: 90, updated on 6-Sep-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACVR1 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (157736446..157876330, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158592958..158732842, 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 MTA3 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 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 
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide hormone binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway involved in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrial septum primum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrial septum primum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branching involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in embryonic heart tube morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocardial cushion cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocardial cushion fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitral valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of determination of dorsal identity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of BMP receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of activin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5113..143666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105.5NP_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, ENST00000263640.7
      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:37103
      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_001111067.4NP_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, AK313630, BC033867, KU177885, L02911
      Consensus CDS
      CCDS2206.1
      UniProtKB/Swiss-Prot
      Q04771
      UniProtKB/TrEMBL
      D3DPA4
      Related
      ENSP00000405004.1, ENST00000434821.7
      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:37103
      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
      Related
      ENSP00000508136.1, ENST00000684348.1
      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:37103
      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
      Related
      ENSP00000440091.2, ENST00000539637.6
      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:37103
      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
      Related
      ENSP00000400767.2, ENST00000424669.6
      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:37103
      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
      Related
      ENSP00000500109.1, ENST00000673324.1
      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:37103
      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_001347667.2NP_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:37103
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      157736446..157876330 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:37103
      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:37103
      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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