B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group))

2014-11-01  

Identity

HGNC
B3GALNT1
LOCATION
3q26.1
LOCUSID
8706
ALIAS
B3GALT3,GLCT3,GLOB,Gb4Cer,P,P1,beta3Gal-T3,galT3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8706
MIM: 603094
HGNC: 918
Ensembl: ENSG00000169255

Variants:

dbSNP: 8706
ClinVar: 8706
TCGA: ENSG00000169255
COSMIC: B3GALNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169255ENST00000320474O75752
ENSG00000169255ENST00000392779O75752
ENSG00000169255ENST00000392781O75752
ENSG00000169255ENST00000417187E7EVF0
ENSG00000169255ENST00000460353C9J6I7
ENSG00000169255ENST00000468268E7EVS2
ENSG00000169255ENST00000473142C9JD16
ENSG00000169255ENST00000473285O75752
ENSG00000169255ENST00000476999E7EVF0
ENSG00000169255ENST00000484127C9JRV6
ENSG00000169255ENST00000488170O75752
ENSG00000169255ENST00000492353C9J0F8
ENSG00000169255ENST00000494173C9JXR0
ENSG00000169255ENST00000494818E7EVF0
ENSG00000169255ENST00000498216C9J8U7
ENSG00000169255ENST00000650695O75752
ENSG00000169255ENST00000650733O75752
ENSG00000169255ENST00000651117O75752
ENSG00000169255ENST00000651147O75752
ENSG00000169255ENST00000651178O75752
ENSG00000169255ENST00000651254O75752
ENSG00000169255ENST00000651282A0A494C097
ENSG00000169255ENST00000651292O75752
ENSG00000169255ENST00000651305O75752
ENSG00000169255ENST00000651379O75752
ENSG00000169255ENST00000651380O75752
ENSG00000169255ENST00000651430C9JXR0
ENSG00000169255ENST00000651460O75752
ENSG00000169255ENST00000651509O75752
ENSG00000169255ENST00000651686O75752
ENSG00000169255ENST00000651689O75752
ENSG00000169255ENST00000651791O75752
ENSG00000169255ENST00000651801C9JXR0
ENSG00000169255ENST00000651916O75752
ENSG00000169255ENST00000651953O75752
ENSG00000169255ENST00000651972O75752
ENSG00000169255ENST00000652032O75752
ENSG00000169255ENST00000652059O75752
ENSG00000169255ENST00000652111O75752
ENSG00000169255ENST00000652143O75752
ENSG00000169255ENST00000652309A0A494C0Y5
ENSG00000169255ENST00000652377O75752
ENSG00000169255ENST00000652593E7EVF0
ENSG00000169255ENST00000652596O75752
ENSG00000169255ENST00000652669O75752
ENSG00000169255ENST00000652730O75752

Expression (GTEx)

0
5
10
15
20
25
30
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
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603
Metabolic pathwaysKEGGhsa01100
Glycosphingolipid biosynthesis, globo-series, LacCer => Gb4CerKEGGhsa_M00068
Glycosphingolipid biosynthesis, globo-series, LacCer => Gb4CerKEGGM00068
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

References

Pubmed IDYearTitleCitations
255215482014TINAGL1 and B3GALNT1 are potential therapy target genes to suppress metastasis in non-small cell lung cancer.19
120232872002Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.6
260557212015Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes.6
239276812013P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.2
247821332014α-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform.2
188392002009Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual.1
192645282009Variants of the melanocortin 1 receptor gene (MC1R) and P gene would be effective for estimating the population origin of an individual.0
260373562015[A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene].0
298734202019Multiple miscarriages in two sisters of Thai origin with the rare Pk phenotype caused by a novel nonsense mutation at the B3GALNT1 locus.0

Citation

Dessen P

B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group))

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60675/b3galnt1-(beta-1-3-n-acetylgalactosaminyltransferase-1-(globoside-blood-group))