B3GNTL1 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1)

2014-11-01  

Identity

HGNC
B3GNTL1
LOCATION
17q25.3
LOCUSID
146712
ALIAS
3-Gn-T8,B3GNT8,BGnT-8,beta-1,beta3Gn-T8,beta3GnTL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146712
MIM: 615337
HGNC: 21727
Ensembl: ENSG00000175711

Variants:

dbSNP: 146712
ClinVar: 146712
TCGA: ENSG00000175711
COSMIC: B3GNTL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175711ENST00000320865Q67FW5
ENSG00000175711ENST00000320865A0A024R8X6
ENSG00000175711ENST00000571218I3L1A1
ENSG00000175711ENST00000572977I3L232
ENSG00000175711ENST00000576599I3L4B6

Expression (GTEx)

0
1
2
3
4
5
6
7
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709

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
155603722004Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.2
155603722004Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.2

Citation

Dessen P

B3GNTL1 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60685/b3gntl1-(udp-glcnac-betagal-beta-1-3-n-acetylglucosaminyltransferase-like-1)