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

    Gene ID: 10282, updated on 27-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
    mouse all
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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
    • 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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    Related articles in PubMed

    1. Membrane tethering in intracellular transport. Waters MG, et al. Curr Opin Cell Biol, 1999 Aug. PMID 10449330
    2. MT1-MMP recruits the ER-Golgi SNARE Bet1 for efficient MT1-MMP transport to the plasma membrane. Miyagawa T, et al. J Cell Biol, 2019 Oct 7. PMID 31519727, Free PMC Article
    3. LAMA2 Muscular Dystrophy. Adam MP, et al. , 1993. PMID 22675738
    4. Large-scale genetic screens identify BET-1 as a cytoskeleton regulator promoting actin function and life span. Garcia G, et al. Aging Cell, 2023 Jan. PMID 36404134, Free PMC Article
    5. The mammalian protein (rbet1) homologous to yeast Bet1p is primarily associated with the pre-Golgi intermediate compartment and is involved in vesicular transport from the endoplasmic reticulum to the Golgi apparatus. Zhang T, et al. J Cell Biol, 1997 Dec 1. PMID 9382863, Free PMC Article

    See all (53) citations in PubMed

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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