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

Gene ID: 11477, updated on 8-Feb-2024

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 heart development; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; and positive regulation of nitrogen compound metabolic process. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and gastrulation. Located in apical part of cell. Is integral component of 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 fibrodysplasia ossificans progressiva. Orthologous to human ACVR1 (activin A receptor type 1). [provided by Alliance of Genome Resources, Apr 2022]
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)
  • Targeted (12)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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

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