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

Gene ID: 10282, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:14562
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
MDRP; 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
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Genomic context

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See BET1 in Genome Data Viewer
Location:
7q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93962762..94004355, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95198654..95240247, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (93592074..93633667, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375402 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:93543651-93544850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:93550649-93551284 Neighboring gene G protein subunit gamma transducin 1 Neighboring gene G protein subunit gamma 11 Neighboring gene BET1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:93618399-93618603 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:93632877-93633483 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:93633484-93634089 Neighboring gene uncharacterized LOC130890646 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:93689611-93690810 Neighboring gene uncharacterized LOC124901812

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Large-scale genetic screens identify BET-1 as a cytoskeleton regulator promoting actin function and life span.
    Title: Large-scale genetic screens identify BET-1 as a cytoskeleton regulator promoting actin function and life span.
  2. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
    Title: BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
  3. The results suggest the recruitment of Bet1 at an early stage after Membrane type 1-matrix metalloproteinase (MT1-MMP) expression promotes the exit of MT1-MMP from the endoplasmic reticulum (ER) and its efficient transport to invadopodia.
    Title: MT1-MMP recruits the ER-Golgi SNARE Bet1 for efficient MT1-MMP transport to the plasma membrane.
  4. The distinct localizations of rsec22 and rbet1 may reflect their participation in opposite directions of membrane flow between the endoplasmic reticulum and Golgi apparatus.
    Title: Mammalian vesicle trafficking proteins of the endoplasmic reticulum and Golgi apparatus.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Muscular dystrophy, congenital, with rapid progression
MedGen: C1850840 OMIM: 254100 GeneReviews: LAMA2 Muscular Dystrophy
not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp781C0425

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle fusion with Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cis-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in transport vesicle TAS
Traceable Author Statement
more info
  

General protein information

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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)

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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_001317739.2 → NP_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:29 → 79
    SNARE_Bet1; SNARE motif of Bet1

  2. NM_005868.6 → NP_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, Q96EA0
    UniProtKB/TrEMBL
    H7C1N3, Q53XK0
    Related
    ENSP00000222547.3, ENST00000222547.8
    Conserved Domains (1) summary
    cd15853
    Location:29 → 87
    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: 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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    93962762..94004355 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    95198654..95240247 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15155.1 GenPept UniProtKB/Swiss-Prot:O15155

Gene LinkOut

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