CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1)

2014-08-01  

Identity

HGNC
CSGALNACT1
LOCATION
8p21.3
LOCUSID
55790
ALIAS
CSGalNAcT-1,ChGn,ChGn-1,SDJLABA,beta4GalNAcT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55790
MIM: 616615
HGNC: 24290
Ensembl: ENSG00000147408

Variants:

dbSNP: 55790
ClinVar: 55790
TCGA: ENSG00000147408
COSMIC: CSGALNACT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147408ENST00000332246Q8TDX6
ENSG00000147408ENST00000397998Q8TDX6
ENSG00000147408ENST00000454498Q8TDX6
ENSG00000147408ENST00000517494E5RJB6
ENSG00000147408ENST00000519222Q8TDX6
ENSG00000147408ENST00000520003E5RGB2
ENSG00000147408ENST00000522854Q8TDX6
ENSG00000147408ENST00000523262E5RK93
ENSG00000147408ENST00000524213E5RGK2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGko00532
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, chondroitin sulfate backboneKEGGhsa_M00058
Glycosaminoglycan biosynthesis, chondroitin sulfate backboneKEGGM00058
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Chondroitin sulfate biosynthesisREACTOMER-HSA-2022870

References

Pubmed IDYearTitleCitations
317057262020CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.11
317057262020CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.11
268064242016Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis.3
268064242016Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis.3
237484132013Abnormal expression of chondroitin sulphate N-acetylgalactosaminyltransferase 1 and Hapln-1 in cartilage with Kashin-Beck disease and primary osteoarthritis.13
237484132013Abnormal expression of chondroitin sulphate N-acetylgalactosaminyltransferase 1 and Hapln-1 in cartilage with Kashin-Beck disease and primary osteoarthritis.13
221569202012Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) involved in chondroitin sulfate initiation: Impact of sulfation on activity and specificity.10
221569202012Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) involved in chondroitin sulfate initiation: Impact of sulfation on activity and specificity.10
211604892011Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.6
211604892011Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.6
197017592010Comparison between human fetal and adult skin.51
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
197017592010Comparison between human fetal and adult skin.51
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.74

Citation

Dessen P

CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54241/favicon/js/lib/case-report-explorer/