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    Acvr1 activin A receptor, type 1 [ Mus musculus (house mouse) ]

    Gene ID: 11477, updated on 28-Jan-2025

    Summary

    Official Symbol
    Acvr1provided by MGI
    Official Full Name
    activin A receptor, type 1provided by MGI
    Primary source
    MGI:MGI:87911
    See related
    Ensembl:ENSMUSG00000026836 AllianceGenome:MGI:87911
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ALK2; Acvr; Alk8; SKR1; Alk-2; Tsk7L; ActR-I; ActRIA; Acvr1a; Acvrlk2; D330013D15Rik
    Summary
    Enables activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including BMP signaling pathway; heart development; and positive regulation of SMAD protein signal transduction. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and gastrulation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including alimentary system; brain; limb; male reproductive gland or organ; and sensory organ. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Orthologous to human ACVR1 (activin A receptor type 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in bladder adult (RPKM 6.5), limb E14.5 (RPKM 6.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Acvr1 in Genome Data Viewer
    Location:
    2 C1.1; 2 33.05 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (58336450..58456840, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (58446438..58566828, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene activin A receptor, type IC Neighboring gene 60S ribosomal protein L29 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E3377 Neighboring gene predicted gene, 50616 Neighboring gene STARR-seq mESC enhancer starr_04543 Neighboring gene VISTA enhancer mm1599 Neighboring gene STARR-seq mESC enhancer starr_04549 Neighboring gene STARR-seq mESC enhancer starr_04550 Neighboring gene uridine phosphorylase 2 Neighboring gene STARR-seq mESC enhancer starr_04553 Neighboring gene STARR-seq mESC enhancer starr_04555 Neighboring gene STARR-seq mESC enhancer starr_04557 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene coiled-coil domain containing 148 Neighboring gene STARR-seq mESC enhancer starr_04559 Neighboring gene STARR-seq mESC enhancer starr_04561 Neighboring gene predicted gene, 54155

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (12)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 31
    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP binding  
    enables BMP receptor activity  
    enables BMP receptor activity  
    enables SMAD binding  
    enables SMAD binding  
    enables SMAD binding  
    enables activin binding PubMed 
    enables activin binding  
    enables activin receptor activity, type I PubMed 
    contributes_to activin receptor activity, type I  
    enables activin receptor activity, type I  
    enables activin receptor activity, type II  
    enables cadherin binding  
    enables cadherin binding  
    enables growth factor binding PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    enables protein homodimerization activity  
    enables protein homodimerization activity  
    enables protein kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein tyrosine kinase binding  
    enables protein tyrosine kinase binding  
    enables transforming growth factor beta binding PubMed 
    enables transforming growth factor beta binding  
    enables transforming growth factor beta receptor activity, type I  
    enables transforming growth factor beta receptor activity, type I PubMed 
    enables transforming growth factor beta receptor activity, type II  
    enables transforming growth factor beta receptor activity, type III  
    enables transmembrane receptor protein serine/threonine kinase activity  
    Items 1 - 25 of 31
    Items 1 - 25 of 68
    Process Evidence Code Pubs
    involved_in BMP signaling pathway  
    involved_in BMP signaling pathway PubMed 
    involved_in BMP signaling pathway  
    involved_in activin receptor signaling pathway  
    involved_in activin receptor signaling pathway  
    involved_in acute inflammatory response PubMed 
    involved_in atrial septum primum morphogenesis PubMed 
    involved_in atrial septum primum morphogenesis  
    involved_in atrioventricular valve morphogenesis PubMed 
    acts_upstream_of_or_within branching involved in blood vessel morphogenesis PubMed 
    involved_in cardiac muscle cell fate commitment  
    involved_in cardiac muscle cell fate commitment  
    involved_in cell differentiation  
    involved_in cellular response to BMP stimulus  
    involved_in cellular response to growth factor stimulus  
    acts_upstream_of_or_within determination of left/right symmetry PubMed 
    involved_in dorsal/ventral pattern formation  
    acts_upstream_of_or_within embryo development PubMed 
    involved_in embryonic heart tube morphogenesis  
    involved_in embryonic heart tube morphogenesis  
    involved_in endocardial cushion cell fate commitment  
    involved_in endocardial cushion cell fate commitment  
    involved_in endocardial cushion formation PubMed 
    involved_in endocardial cushion fusion PubMed 
    acts_upstream_of_or_within gastrulation PubMed 
    acts_upstream_of_or_within gastrulation with mouth forming second PubMed 
    acts_upstream_of_or_within germ cell development PubMed 
    involved_in heart development  
    acts_upstream_of_or_within heart development PubMed 
    acts_upstream_of_or_within in utero embryonic development PubMed 
    acts_upstream_of_or_within mesoderm development PubMed 
    acts_upstream_of_or_within mesoderm formation PubMed 
    involved_in mitral valve morphogenesis  
    involved_in mitral valve morphogenesis  
    involved_in negative regulation of G1/S transition of mitotic cell cycle  
    involved_in negative regulation of G1/S transition of mitotic cell cycle  
    involved_in negative regulation of activin receptor signaling pathway  
    involved_in negative regulation of activin receptor signaling pathway  
    involved_in negative regulation of extrinsic apoptotic signaling pathway  
    involved_in negative regulation of extrinsic apoptotic signaling pathway  
    involved_in negative regulation of signal transduction  
    acts_upstream_of_or_within neural crest cell migration PubMed 
    NOT involved_in outflow tract septum morphogenesis PubMed 
    acts_upstream_of_or_within pharyngeal system development PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of SMAD protein signal transduction PubMed 
    involved_in positive regulation of SMAD protein signal transduction  
    involved_in positive regulation of bone mineralization  
    involved_in positive regulation of bone mineralization  
    involved_in positive regulation of cardiac epithelial to mesenchymal transition PubMed 
    involved_in positive regulation of cell migration  
    involved_in positive regulation of cell migration  
    involved_in positive regulation of determination of dorsal identity  
    involved_in positive regulation of determination of dorsal identity  
    involved_in positive regulation of osteoblast differentiation  
    involved_in positive regulation of osteoblast differentiation  
    involved_in positive regulation of peptidyl-tyrosine phosphorylation  
    involved_in positive regulation of peptidyl-tyrosine phosphorylation  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in regulation of ossification  
    acts_upstream_of_or_within smooth muscle cell differentiation PubMed 
    involved_in transforming growth factor beta receptor signaling pathway  
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway PubMed 
    involved_in transforming growth factor beta receptor signaling pathway  
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway PubMed 
    acts_upstream_of_or_within urogenital system development  
    involved_in ventricular septum morphogenesis PubMed 
    Items 1 - 25 of 68
    Component Evidence Code Pubs
    part_of BMP receptor complex  
    part_of activin receptor complex  
    part_of activin receptor complex  
    located_in apical part of cell PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    General protein information

    Preferred Names
    activin receptor type-1
    Names
    TGF-B superfamily receptor type I
    TSK-7L
    TSR-I
    activin receptor type I
    serine/threonine-protein kinase receptor R1
    NP_001103674.1
    NP_001103675.1
    NP_001341977.1
    NP_001341978.1
    NP_031420.2
    XP_006497685.1

    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.

    mRNA and Protein(s)

    1. NM_001110204.1NP_001103674.1  activin receptor type-1 precursor

      See identical proteins and their annotated locations for NP_001103674.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All five variants encode the same protein.
      Source sequence(s)
      AK053428, AK150014, BC058718, BQ030975
      Consensus CDS
      CCDS16050.1
      UniProtKB/Swiss-Prot
      P37172, Q3UDH5, Q91VF1
      UniProtKB/TrEMBL
      Q8C7A7
      Related
      ENSMUSP00000088453.3, ENSMUST00000090935.9
      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_001110205.1NP_001103675.1  activin receptor type-1 precursor

      See identical proteins and their annotated locations for NP_001103675.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
      Source sequence(s)
      BC058718, BQ030975, L15436
      Consensus CDS
      CCDS16050.1
      UniProtKB/Swiss-Prot
      P37172, Q3UDH5, Q91VF1
      UniProtKB/TrEMBL
      Q8C7A7
      Related
      ENSMUSP00000056784.6, ENSMUST00000056376.12
      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_001355048.1NP_001341977.1  activin receptor type-1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
      Source sequence(s)
      AL732468, AL807788
      Consensus CDS
      CCDS16050.1
      UniProtKB/Swiss-Prot
      P37172, Q3UDH5, Q91VF1
      UniProtKB/TrEMBL
      Q8C7A7
      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_001355049.1NP_001341978.1  activin receptor type-1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
      Source sequence(s)
      AL732468, AL807788
      Consensus CDS
      CCDS16050.1
      UniProtKB/Swiss-Prot
      P37172, Q3UDH5, Q91VF1
      UniProtKB/TrEMBL
      Q8C7A7
      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_007394.3NP_031420.2  activin receptor type-1 precursor

      See identical proteins and their annotated locations for NP_031420.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.
      Source sequence(s)
      AK150014, BC058718, BQ030975
      Consensus CDS
      CCDS16050.1
      UniProtKB/Swiss-Prot
      P37172, Q3UDH5, Q91VF1
      UniProtKB/TrEMBL
      Q8C7A7
      Related
      ENSMUSP00000108220.3, ENSMUST00000112601.9
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      58336450..58456840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497622.5XP_006497685.1  activin receptor type-1 isoform X1

      See identical proteins and their annotated locations for XP_006497685.1

      UniProtKB/Swiss-Prot
      P37172, Q3UDH5, Q91VF1
      UniProtKB/TrEMBL
      Q8C7A7
      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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