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

    Gene ID: 130399, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:18123
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACVR1C in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157526767..157628864, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (157980200..158081964, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158383279..158485376, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12027 Neighboring gene cytohesin 1 interacting protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:158320283-158321482 Neighboring gene uncharacterized LOC105373712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12028 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158371964-158372611 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158371315-158371963 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 activin A receptor type 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:158687547-158688048 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:158694657-158695856 Neighboring gene uncharacterized LOC124907899

    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

    Gene Ontology Provided by GOA

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

    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)

    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_001111031.2NP_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
      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:145
      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
      Q4ZFZ8, Q86UL1, Q86UL2, Q8NER5, Q8TBG2
      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: 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
      157526767..157628864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      157980200..158081964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)