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

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; 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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
single nucleotide polymorphisms in the BET1L gene is associated with uterine fibroid.
Title: BET1L and TNRC6B associate with uterine fibroid risk among European Americans.
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.
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.

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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 EBI GWAS CatalogPubMed
A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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)

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
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

202924..207399 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.