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    ACVR1B activin A receptor type 1B [ Homo sapiens (human) ]

    Gene ID: 91, updated on 25-Nov-2021

    Summary

    Official Symbol
    ACVR1Bprovided by HGNC
    Official Full Name
    activin A receptor type 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:172
    See related
    Ensembl:ENSG00000135503 MIM:601300
    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
    ALK4; SKR2; ACTRIB; ACVRLK4
    Summary
    This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 15.7), colon (RPKM 11.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ACVR1B in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (51951696..51997078)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52345483..52390862)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene activin A receptor like type 1 Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene TAMALIN antisense RNA 1 Neighboring gene trafficking regulator and scaffold protein tamalin Neighboring gene Sharpr-MPRA regulatory region 2055 Neighboring gene nuclear receptor subfamily 4 group A member 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?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    GeneReviews: Not available

    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
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to activin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables activin receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables activin receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables activin receptor activity, type I TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to activin-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables inhibin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables transmembrane receptor protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables ubiquitin protein ligase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nodal signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of trophoblast cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transmembrane receptor protein serine/threonine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of activin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    activin receptor type-1B
    Names
    activin A receptor, type IB
    activin A receptor, type II-like kinase 4
    activin receptor-like kinase 4
    serine/threonine-protein kinase receptor R2
    NP_004293.1
    NP_064732.3
    NP_064733.3
    XP_011537268.1
    XP_011537269.1
    XP_016875690.1

    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_022926.1 RefSeqGene

      Range
      5033..50412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004302.5NP_004293.1  activin receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_004293.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (a).
      Source sequence(s)
      AC025259, BC000254
      Consensus CDS
      CCDS8816.1
      UniProtKB/Swiss-Prot
      P36896
      Related
      ENSP00000257963.4, ENST00000257963.9
      Conserved Domains (3) summary
      smart00467
      Location:177207
      GS; GS motif
      cd14143
      Location:211498
      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:36104
      Activin_recp; Activin types I and II receptor domain
    2. NM_020327.4NP_064732.3  activin receptor type-1B isoform b

      See identical proteins and their annotated locations for NP_064732.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC025259, AK299496
      Consensus CDS
      CCDS44893.2
      UniProtKB/Swiss-Prot
      P36896
      Related
      ENSP00000442885.1, ENST00000542485.1
      Conserved Domains (2) summary
      smart00467
      Location:125155
      GS; GS motif
      cd14143
      Location:159446
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    3. NM_020328.4NP_064733.3  activin receptor type-1B isoform c precursor

      See identical proteins and their annotated locations for NP_064733.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is longer than isoform a.
      Source sequence(s)
      AC025259, AK299120, BC000254
      Consensus CDS
      CCDS44894.2
      UniProtKB/Swiss-Prot
      P36896
      Related
      ENSP00000442656.1, ENST00000541224.5
      Conserved Domains (3) summary
      cd14143
      Location:211539
      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:32105
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:178205
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      51951696..51997078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020201.2XP_016875690.1  activin receptor type-1B isoform X2

      Related
      ENSP00000390477.2, ENST00000426655.6
    2. XM_011538966.3XP_011537268.1  activin receptor type-1B isoform X1

      Conserved Domains (3) summary
      pfam01064
      Location:32109
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:178205
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:211420
      PKc_like; Protein Kinases, catalytic domain
    3. XM_011538967.3XP_011537269.1  activin receptor type-1B isoform X3

      Conserved Domains (3) summary
      pfam01064
      Location:32109
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:178205
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:211270
      PKc_like; Protein Kinases, catalytic domain
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