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    BET1L Bet1 golgi vesicular membrane trafficking protein like [ Homo sapiens (human) ]

    Gene ID: 51272, updated on 3-Nov-2024

    Summary

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    Official Symbol
    BET1Lprovided by HGNC
    Official Full Name
    Bet1 golgi vesicular membrane trafficking protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:19348
    See related
    Ensembl:ENSG00000177951 MIM:615417; AllianceGenome:HGNC:19348
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GS15; BET1L1; GOLIM3; HSPC197
    Summary
    Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 28.0), thyroid (RPKM 22.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BET1L in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (202924..207399, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (244102..248598, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (202924..207399, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene secretoglobin family 1C member 1 Neighboring gene ciliary microtubule associated protein 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:205815-206314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:206625-207126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:207673-208294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:208295-208914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:208989-209576 Neighboring gene RIC8 guanine nucleotide exchange factor A Neighboring gene microRNA 6743 Neighboring gene sirtuin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4255

    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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    Related articles in PubMed

    1. Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification. Li S, et al. Cancer Res, 2023 Jul 5. PMID 37115853
    2. Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet. Lee SC, et al. BMC Womens Health, 2022 Apr 27. PMID 35477381, Free PMC Article
    3. Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS. Lynch EM, et al. Exp Neurol, 2021 Nov. PMID 34310943, Free PMC Article
    4. COG lobe B sub-complex engages v-SNARE GS15 and functions via regulated interaction with lobe A sub-complex. Willett R, et al. Sci Rep, 2016 Jul 7. PMID 27385402, Free PMC Article
    5. Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5. Linders PTA, et al. Nat Commun, 2021 Oct 28. PMID 34711829, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification.
      Title: Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification.
    2. Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.
      Title: Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.
    3. Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS.
      Title: Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS.
    4. BET1L rs2280543 polymorphisms are associated with an increased risk of intracranial aneurysm.
      Title: Replication of GWAS Loci Revealed an Increased Risk of BET1L and H19 Polymorphisms with Intracranial Aneurysm.
    5. both BET1L and TNRC6B contributed to the risk of UL in Chinese women
      Title: Association of BET1L and TNRC6B with uterine leiomyoma risk and its relevant clinical features in Han Chinese population.
    6. COG sub-complexes are spatially separated on the Golgi with lobe A preferential localization on Golgi stacks and the presence of lobe B on vesicle-like structures, where it physically interacts with v-SNARE GS15.
      Title: COG lobe B sub-complex engages v-SNARE GS15 and functions via regulated interaction with lobe A sub-complex.
    7. single nucleotide polymorphisms in the BET1L gene is associated with uterine fibroid.
      Title: BET1L and TNRC6B associate with uterine fibroid risk among European Americans.
    8. Meta-analysis showed a strong association at blocked early in transport 1 homolog (BET1L) rs2280543 for intramural uterine fibroid type in european americans.
      Title: Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans.
    9. Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport.
      Title: GS15 forms a SNARE complex with syntaxin 5, GS28, and Ykt6 and is implicated in traffic in the early cisternae of the 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

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    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

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    BET1-like protein
    Names
    GOS-15
    blocked early in transport 1 homolog-like
    golgi SNARE 15 kDa protein
    golgi SNARE with a size of 15 kDa
    golgi integral membrane protein 3
    vesicle transport protein GOS15

    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_001098787.2 → NP_001092257.1  BET1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001092257.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC008971, BX648752, DA875317, DA880679
      Consensus CDS
      CCDS41582.1
      UniProtKB/Swiss-Prot
      B3KMY0, Q9NYM9
      UniProtKB/TrEMBL
      E9PHY4
      Related
      ENSP00000372210.3, ENST00000382762.8
      Conserved Domains (1) summary
      cd15853
      Location:18 → 76
      SNARE_Bet1; SNARE motif of Bet1

    2. NM_016526.5 → NP_057610.2  BET1-like protein isoform 2

      See identical proteins and their annotated locations for NP_057610.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks the 3' splice junction, which results in a different 3' coding sequence, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC032779, BX648752, DA875317, DA880679
      Consensus CDS
      CCDS7689.1
      UniProtKB/TrEMBL
      A0A0C4DH16
      Related
      ENSP00000339093.7, ENST00000325147.13
      Conserved Domains (1) summary
      cd15853
      Location:18 → 56
      SNARE_Bet1; SNARE motif of Bet1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      202924..207399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      244102..248598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016465.2: Suppressed sequence

      Description
      NM_016465.2: This RefSeq was permanently suppressed because it contains the wrong CDS and it is entirely 3' UTR.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYM9.1 GenPept UniProtKB/Swiss-Prot:Q9NYM9

    Gene LinkOut

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

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