GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1)

2009-08-01  

Identity

HGNC
GALNT1
LOCATION
18q12.2
LOCUSID
2589
ALIAS
GALNAC-T1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2589
MIM: 602273
HGNC: 4123
Ensembl: ENSG00000141429

Variants:

dbSNP: 2589
ClinVar: 2589
TCGA: ENSG00000141429
COSMIC: GALNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141429ENST00000269195Q10472
ENSG00000141429ENST00000269195A0A024RC48
ENSG00000141429ENST00000589189K7EJV8
ENSG00000141429ENST00000590654K7EK46
ENSG00000141429ENST00000591081Q10472
ENSG00000141429ENST00000591924Q10472

Expression (GTEx)

0
10
20
30
40
50
60
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
Mucin type O-glycan biosynthesisKEGGko00512
Mucin type O-glycan biosynthesisKEGGhsa00512
Metabolic pathwaysKEGGhsa01100
O-glycan biosynthesis, mucin type coreKEGGhsa_M00056
O-glycan biosynthesis, mucin type coreKEGGM00056
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

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
221839812012Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family.223
194872952009Genomic profiling of microRNAs in bladder cancer: miR-129 is associated with poor outcome and promotes cell death in vitro.146
204980162010Regulation of O-glycosylation through Golgi-to-ER relocation of initiation enzymes.74
213498452011Emerging paradigms for the initiation of mucin-type protein O-glycosylation by the polypeptide GalNAc transferase family of glycosyltransferases.56
299153112018LncRNA SNHG7 sponges miR-216b to promote proliferation and liver metastasis of colorectal cancer through upregulating GALNT1.32
182681242008Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer.26
194607552009Glycopeptide-preferring polypeptide GalNAc transferase 10 (ppGalNAc T10), involved in mucin-type O-glycosylation, has a unique GalNAc-O-Ser/Thr-binding site in its catalytic domain not found in ppGalNAc T1 or T2.25
266767482016GALNT1-Mediated Glycosylation and Activation of Sonic Hedgehog Signaling Maintains the Self-Renewal and Tumor-Initiating Capacity of Bladder Cancer Stem Cells.24
189876182009Screening for replication of genome-wide SNP associations in sporadic ALS.14
257309042015Knockdown of GALNT1 suppresses malignant phenotype of hepatocellular carcinoma by suppressing EGFR signaling.12

Citation

Dessen P

GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51033/galnt1