NDST1 (N-deacetylase and N-sulfotransferase 1)

2012-03-01  

Identity

HGNC
LOCATION
5q33.1
LOCUSID
ALIAS
HSST,MRT46,NST1
FUSION GENES

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

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

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/case-report-explorer/js/favicon/apple-touch-icon.png