B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)

2007-06-01  

Identity

HGNC
B4GALNT1
LOCATION
12q13.3
LOCUSID
2583
ALIAS
GALGT,GALNACT,GalNAc-T,SPG26

Other Information

Locus ID:

NCBI: 2583
MIM: 601873
HGNC: 4117
Ensembl: ENSG00000135454

Variants:

dbSNP: 2583
ClinVar: 2583
TCGA: ENSG00000135454
COSMIC: B4GALNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135454ENST00000341156Q00973
ENSG00000135454ENST00000418555Q00973
ENSG00000135454ENST00000449184B4DSP5
ENSG00000135454ENST00000547741H0YI57
ENSG00000135454ENST00000548487F8VW33
ENSG00000135454ENST00000548888F8VU35
ENSG00000135454ENST00000549391H0YHT1
ENSG00000135454ENST00000550764Q00973
ENSG00000135454ENST00000551220F8VR44
ENSG00000135454ENST00000552219F8VSE0
ENSG00000135454ENST00000552350Q00973
ENSG00000135454ENST00000552798F8W1A7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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 - ganglio seriesKEGGko00604
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

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
241039112013Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.29
211356952011Molecular upstaging based on paraffin-embedded sentinel lymph nodes: ten-year follow-up confirms prognostic utility in melanoma patients.12
242838932014Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.6
304639402019Elevated histone H3 acetylation and loss of the Sp1-HDAC1 complex de-repress the GM2-synthase gene in renal cell carcinoma.4
305219732019Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.3
314914352019Exploring the mechanism of clear cell renal cell carcinoma metastasis and key genes based on multi-tool joint analysis.3
310752272019High GD2 expression defines breast cancer cells with enhanced invasiveness.2
171198502007Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.1
193180312009Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation.1
193180312009Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation.1

Citation

Dessen P

B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47557/b4galnt1