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    BTC betacellulin [ Homo sapiens (human) ]

    Gene ID: 685, updated on 14-Jun-2016
    Official Symbol
    BTCprovided by HGNC
    Official Full Name
    betacellulinprovided by HGNC
    Primary source
    HGNC:HGNC:1121
    See related
    Ensembl:ENSG00000174808 HPRD:02643; MIM:600345; Vega:OTTHUMG00000130107
    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
    Summary
    This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the secreted growth factor. A secreted form and a membrane-anchored form of this protein bind to multiple different EGF receptors. This protein promotes pancreatic cell proliferation and insulin secretion, as well as retinal vascular permeability. Mutations in this gene may be associated with type 2 diabetes in human patients. [provided by RefSeq, Nov 2015]
    Orthologs
    Location:
    4q13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (74744759..74794718, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75671448..75719882, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene amphiregulin Neighboring gene uncharacterized LOC107986229 Neighboring gene uncharacterized LOC105377278 Neighboring gene uncharacterized LOC105377282

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Ras guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    epidermal growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ERBB2 signaling pathway TAS
    Traceable Author Statement
    more info
     
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of urine volume IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell motility TAS
    Traceable Author Statement
    more info
     
    regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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_001316963.1NP_001303892.1  probetacellulin isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2, also known as BTC-beta or BTC-delta4) lacks the transmembrane domain and a portion of the EGF domain compared to isoform 1.
      Source sequence(s)
      AB109441, AC116645, BI552049, BI758136, BX114471, S55606
      UniProtKB/Swiss-Prot
      P35070
      UniProtKB/TrEMBL
      A0A0S2Z3I5
      Related
      ENSP00000421747, OTTHUMP00000219057, ENST00000512743, OTTHUMT00000362471
    2. NM_001729.3NP_001720.1  probetacellulin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001720.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB109441, AC116645, BI758136, BX114471, S55606
      Consensus CDS
      CCDS3566.1
      UniProtKB/Swiss-Prot
      P35070
      UniProtKB/TrEMBL
      A0A0S2Z437
      Related
      ENSP00000379092, OTTHUMP00000160600, ENST00000395743, OTTHUMT00000252413
      Conserved Domains (1) summary
      PHA02887
      Location:50109
      PHA02887; EGF-like protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      74744759..74794718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532211.1XP_011530513.1  

      See identical proteins and their annotated locations for XP_011530513.1

      UniProtKB/Swiss-Prot
      P35070
      UniProtKB/TrEMBL
      A0A0S2Z437
      Conserved Domains (1) summary
      PHA02887
      Location:50109
      PHA02887; EGF-like protein; Provisional
    2. XM_017008568.1XP_016864057.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      75646457..75696381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)