B3GALT1 (beta-1,3-galactosyltransferase 1)

2014-08-01  

Identity

HGNC
B3GALT1
LOCATION
2q24.3
LOCUSID
8708
ALIAS
beta3Gal-T1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8708
MIM: 603093
HGNC: 916
Ensembl: ENSG00000172318

Variants:

dbSNP: 8708
ClinVar: 8708
TCGA: ENSG00000172318
COSMIC: B3GALT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172318ENST00000392690Q9Y5Z6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGko00601
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGhsa00601
Metabolic pathwaysKEGGhsa01100
Glycosphingolipid biosynthesis, lacto-series, LacCer => Lc4CerKEGGhsa_M00070
Glycosphingolipid biosynthesis, lacto-series, LacCer => Lc4CerKEGGM00070

References

Pubmed IDYearTitleCitations
372831782023A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P(1) (k) phenotype.0
372831782023A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P(1) (k) phenotype.0

Citation

Dessen P

B3GALT1 (beta-1,3-galactosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54149/b3galt1-(beta-1-3-galactosyltransferase-1)