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

Gene ID: 51272, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in ovary (RPKM 28.0), thyroid (RPKM 22.6) and 25 other tissues See more
Orthologs

Genomic context

See BET1L in Genome Data Viewer
Location:
11p15.5
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (202924..207422, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (202924..207422, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC388572 Neighboring gene secretoglobin family 1C member 1 Neighboring gene outer dense fiber of sperm tails 3 Neighboring gene microRNA 6743 Neighboring gene RIC8 guanine nucleotide exchange factor A Neighboring gene sirtuin 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001098787.1NP_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
    Q9NYM9
    Related
    ENSP00000372210.3, ENST00000382762.7
    Conserved Domains (1) summary
    cd15853
    Location:1876
    SNARE_Bet1; SNARE motif of Bet1
  2. NM_016526.4NP_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:1856
    SNARE_Bet1; SNARE motif of Bet1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    202924..207422 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.
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