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

Gene ID: 90, updated on 18-Sep-2024

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; AllianceGenome:HGNC:171
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
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Genomic context

See ACVR1 in Genome Data Viewer
Location:
2q24.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157736446..157876330, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158189880..158329404, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 12029 Neighboring gene uncharacterized LOC124907898 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:158590437-158591636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158605968-158606478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158606479-158606988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:158608073-158608572 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:158616153-158616973 Neighboring gene NANOG hESC enhancer GRCh37_chr2:158617891-158618482 Neighboring gene NANOG hESC enhancer GRCh37_chr2:158687547-158688048 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:158694657-158695856 Neighboring gene uncharacterized LOC124907899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12031 Neighboring gene Sharpr-MPRA regulatory region 13798 Neighboring gene uncharacterized LOC105373714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12034 Neighboring gene RNA, U6 small nuclear 436, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:158789161-158789872 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:158789873-158790582 Neighboring gene MTA3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables BMP receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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
 
enables transmembrane receptor protein serine/threonine kinase activity IDA
Inferred from Direct Assay
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
 
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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 cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
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 formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion fusion 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
 
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 G1/S transition of mitotic cell cycle 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 pharyngeal system development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
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 osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
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
 
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 

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

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
    3782..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
    A0A0B5HR54, D3DPA4, D3DPA5
    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
    A0A0B5HR54, D3DPA4, D3DPA5
    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
    A0A0B5HR54, D3DPA4, D3DPA5
    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
    A0A0B5HR54, D3DPA4, D3DPA5
    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
    A0A0B5HR54, D3DPA4, D3DPA5
    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
    A0A0B5HR54, D3DPA4, D3DPA5
    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
    A0A0B5HR54, D3DPA4, D3DPA5
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    157736446..157876330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    158189880..158329404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)