NDST1 (N-deacetylase and N-sulfotransferase 1)

2012-03-01  

Identity

HGNC
NDST1
LOCATION
5q33.1
LOCUSID
3340
ALIAS
HSST,MRT46,NST1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3340
MIM: 600853
HGNC: 7680
Ensembl: ENSG00000070614

Variants:

dbSNP: 3340
ClinVar: 3340
TCGA: ENSG00000070614
COSMIC: NDST1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070614ENST00000261797P52848
ENSG00000070614ENST00000518299E5RG24
ENSG00000070614ENST00000519157E5RG58
ENSG00000070614ENST00000522491E5RGN9
ENSG00000070614ENST00000523767E7EVJ3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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 - heparan sulfate / heparinKEGGko00534
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGhsa00534
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, heparan sulfate backboneKEGGhsa_M00059
Glycosaminoglycan biosynthesis, heparan sulfate backboneKEGGM00059
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG biosynthesisREACTOMER-HSA-2022928

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
328780222020Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.8
328780222020Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.8
313641262019MiRNA-191 functions as an oncogene in primary glioblastoma by directly targeting NDST1.7
313641262019MiRNA-191 functions as an oncogene in primary glioblastoma by directly targeting NDST1.7
282119852017A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.10
284048552017Genome-Wide Screening Uncovers the Significance of N-Sulfation of Heparan Sulfate as a Host Cell Factor for Chikungunya Virus Infection.59
282119852017A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.10
284048552017Genome-Wide Screening Uncovers the Significance of N-Sulfation of Heparan Sulfate as a Host Cell Factor for Chikungunya Virus Infection.59
261090662015Role of Deacetylase Activity of N-Deacetylase/N-Sulfotransferase 1 in Forming N-Sulfated Domain in Heparan Sulfate.14
261090662015Role of Deacetylase Activity of N-Deacetylase/N-Sulfotransferase 1 in Forming N-Sulfated Domain in Heparan Sulfate.14
251251502014NDST1 missense mutations in autosomal recessive intellectual disability.20
251567752014Methylation-regulated miR-149 modulates chemoresistance by targeting GlcNAc N-deacetylase/N-sulfotransferase-1 in human breast cancer.43
251251502014NDST1 missense mutations in autosomal recessive intellectual disability.20
251567752014Methylation-regulated miR-149 modulates chemoresistance by targeting GlcNAc N-deacetylase/N-sulfotransferase-1 in human breast cancer.43
238844162013MicroRNA-24 suppression of N-deacetylase/N-sulfotransferase-1 (NDST1) reduces endothelial cell responsiveness to vascular endothelial growth factor A (VEGFA).10

Citation

Dessen P

NDST1 (N-deacetylase and N-sulfotransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52611/teaching-explorer/gene-fusions/deep-insight-explorer/