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

Gene ID: 10282, updated on 11-Sep-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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (93962762..94004355, 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 LOC107986820 Neighboring gene BET1 antisense RNA 1 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
    93962762..94004355 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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