BET1L (Bet1 golgi vesicular membrane trafficking protein like)

2014-08-01  

Identity

HGNC
BET1L
LOCATION
11p15.5
LOCUSID
51272
ALIAS
BET1L1,GOLIM3,GS15,HSPC197
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51272
MIM: 615417
HGNC: 19348
Ensembl: ENSG00000177951

Variants:

dbSNP: 51272
ClinVar: 51272
TCGA: ENSG00000177951
COSMIC: BET1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177951ENST00000325147A0A0C4DH16
ENSG00000177951ENST00000332865H7BXT7
ENSG00000177951ENST00000382762Q9NYM9
ENSG00000177951ENST00000410108B8ZZS0
ENSG00000177951ENST00000486280E9PQJ6
ENSG00000177951ENST00000529614E9PHY4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SNARE interactions in vesicular transportKEGGko04130
SNARE interactions in vesicular transportKEGGhsa04130
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Intra-Golgi trafficREACTOMER-HSA-6811438

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
371158532023Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification.1
371158532023Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification.1
354773812022Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.1
354773812022Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.1
343109432021Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS.5
343109432021Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS.5
312754552019Replication of GWAS Loci Revealed an Increased Risk of BET1L and H19 Polymorphisms with Intracranial Aneurysm.4
312754552019Replication of GWAS Loci Revealed an Increased Risk of BET1L and H19 Polymorphisms with Intracranial Aneurysm.4
297435412018Association of BET1L and TNRC6B with uterine leiomyoma risk and its relevant clinical features in Han Chinese population.3
297435412018Association of BET1L and TNRC6B with uterine leiomyoma risk and its relevant clinical features in Han Chinese population.3
273854022016COG lobe B sub-complex engages v-SNARE GS15 and functions via regulated interaction with lobe A sub-complex.18
273854022016COG lobe B sub-complex engages v-SNARE GS15 and functions via regulated interaction with lobe A sub-complex.18
236046782013BET1L and TNRC6B associate with uterine fibroid risk among European Americans.22
238925402013Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans.19
236046782013BET1L and TNRC6B associate with uterine fibroid risk among European Americans.22

Citation

Dessen P

BET1L (Bet1 golgi vesicular membrane trafficking protein like)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54154/teaching-explorer/new-content/