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ACVR1C activin A receptor type 1C [ Homo sapiens (human) ]

Gene ID: 130399, updated on 1-Aug-2020

Summary

Official Symbol
ACVR1Cprovided by HGNC
Official Full Name
activin A receptor type 1Cprovided by HGNC
Primary source
HGNC:HGNC:18123
See related
Ensembl:ENSG00000123612 MIM:608981
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALK7; ACVRLK7
Summary
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in fat (RPKM 19.0), colon (RPKM 1.8) and 6 other tissues See more
Orthologs

Genomic context

See ACVR1C in Genome Data Viewer
Location:
2q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (157526767..157628864, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158383279..158485399, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytohesin 1 interacting protein Neighboring gene uncharacterized LOC105373712 Neighboring gene uncharacterized LOC105373713 Neighboring gene activin A receptor type 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?

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
activin receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin receptor activity, type I IDA
Inferred from Direct Assay
more info
PubMed 
growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IC
Inferred by Curator
more info
PubMed 
nodal binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic nuclear changes IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid storage IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chorionic trophoblast cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of trophoblast cell migration IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nodal signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IC
Inferred by Curator
more info
PubMed 
response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
trophectodermal cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
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 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
activin receptor type-1C
Names
ACTR-IC
ALK-7
activin A receptor, type IC
activin receptor type IC
activin receptor-like kinase 7
NP_001104501.1
NP_001104502.1
NP_001104503.1
NP_660302.2

NCBI Reference Sequences (RefSeq)

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_001111031.1NP_001104501.1  activin receptor type-1C isoform 2

    See identical proteins and their annotated locations for NP_001104501.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2), also known as tALK7, has a shorter N-terminus when compared to isoform 1, and lacks part of the activin receptor-binding domain.
    Source sequence(s)
    AC079750, AF525679, AW014016
    Consensus CDS
    CCDS46434.1
    UniProtKB/Swiss-Prot
    Q8NER5
    Related
    ENSP00000387168.3, ENST00000409680.7
    Conserved Domains (3) summary
    cd14143
    Location:149436
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:545
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:116143
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_001111032.2NP_001104502.1  activin receptor type-1C isoform 3 precursor

    See identical proteins and their annotated locations for NP_001104502.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 1. The resulting isoform (3), also known as sALK7a, lacks the transmembrane and GS domains, compared to isoform 1.
    Source sequence(s)
    AC019186, AC079750
    Consensus CDS
    CCDS46433.1
    UniProtKB/Swiss-Prot
    Q8NER5
    Related
    ENSP00000335178.7, ENST00000335450.7
    Conserved Domains (4) summary
    cd14143
    Location:119406
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:26100
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:115398
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:101113
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. NM_001111033.2NP_001104503.1  activin receptor type-1C isoform 4 precursor

    See identical proteins and their annotated locations for NP_001104503.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region, compared to variant 1. The resulting isoform (4), also known as sALK7b, lacks the transmembrane domain, GS domain, and part of the kinase domain, compared to isoform 1.
    Source sequence(s)
    AC019186, AC079750
    Consensus CDS
    CCDS46432.1
    UniProtKB/Swiss-Prot
    Q8NER5
    Related
    ENSP00000335139.6, ENST00000348328.9
    Conserved Domains (2) summary
    pfam01064
    Location:26100
    Activin_recp; Activin types I and II receptor domain
    cl21453
    Location:102329
    PKc_like; Protein Kinases, catalytic domain
  4. NM_145259.3NP_660302.2  activin receptor type-1C isoform 1 precursor

    See identical proteins and their annotated locations for NP_660302.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC019186, AC079750
    Consensus CDS
    CCDS2205.1
    UniProtKB/Swiss-Prot
    Q8NER5
    Related
    ENSP00000243349.7, ENST00000243349.13
    Conserved Domains (4) summary
    cd14143
    Location:199486
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:26100
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:195478
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:166193
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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
    157526767..157628864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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