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    BET1 Bet1 golgi vesicular membrane trafficking protein [ Homo sapiens (human) ]

    Gene ID: 10282, updated on 14-Jul-2019

    Summary

    Official Symbol
    BET1provided by HGNC
    Official Full Name
    Bet1 golgi vesicular membrane trafficking proteinprovided by HGNC
    Primary source
    HGNC:HGNC:14562
    See related
    Ensembl:ENSG00000105829 MIM:605456
    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
    HBET1
    Summary
    This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in placenta (RPKM 6.4), adrenal (RPKM 5.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See BET1 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (93962770..94004382, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (93592082..93633693, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375402 Neighboring gene G protein subunit gamma transducin 1 Neighboring gene G protein subunit gamma 11 Neighboring gene uncharacterized LOC105375403 Neighboring gene uncharacterized LOC107986820 Neighboring gene uncharacterized LOC112267858 Neighboring gene uncharacterized LOC107986821 Neighboring gene VISTA enhancer hs1626 Neighboring gene COL1A2 antisense RNA 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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp781C0425

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle fusion with Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    Golgi trans cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    integral component of Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    transport vesicle TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    BET1 homolog
    Names
    Bet1p homolog
    Golgi vesicular membrane trafficking protein p18
    blocked early in transport 1 homolog
    golgi vesicular membrane-trafficking protein p18

    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_001317739.2NP_001304668.1  BET1 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA812913, BC012595
      Consensus CDS
      CCDS83203.1
      UniProtKB/Swiss-Prot
      O15155
      Related
      ENSP00000391228.1, ENST00000433727.5
      Conserved Domains (1) summary
      cd15853
      Location:2979
      SNARE_Bet1; SNARE motif of Bet1
    2. NM_005868.6NP_005859.1  BET1 homolog isoform 1

      See identical proteins and their annotated locations for NP_005859.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA812913, AK313984, BC000899
      Consensus CDS
      CCDS5635.1
      UniProtKB/Swiss-Prot
      O15155
      UniProtKB/TrEMBL
      Q53XK0
      Related
      ENSP00000222547.3, ENST00000222547.8
      Conserved Domains (1) summary
      cd15853
      Location:2987
      SNARE_Bet1; SNARE motif of Bet1

    RNA

    1. NR_133908.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006378, BG721261, CR749267
      Related
      ENST00000357520.8
    2. NR_133909.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006378, CR749267, DA127369

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      93962770..94004382 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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