NDST1

Gene Information
 
Gene Symbol
NDST1
 
Aliases
HSST, MRT46, NST1
 
Entrez Gene ID
 
Gene Name
N-deacetylase and N-sulfotransferase 1
 
Chromosomal Location
5q33.1
 
HGNC ID
 
Summary
This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0015012 Biological process Heparan sulfate proteoglycan biosynthetic process IBA 21873635
GO:0015012 Biological process Heparan sulfate proteoglycan biosynthetic process IDA 9915799
GO:0015014 Biological process Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IBA 21873635
GO:0015014 Biological process Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IDA 9915799
GO:0005794 Cellular component Golgi apparatus IBA 21873635
Protein Information
 
Protein Name
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1, HSNST 1, N-Deacetylase-N-sulfotransferase 1, N-HSST 1, N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1, N-deacetylase/N-sulfotransferase 1, N-heparan sulfate sulfotransferase 1, NDST-1, [Heparan sulfate]-glucosamine N-sulfotransferase 1, glucosaminyl N-deacetylase/N-sulfotransferase 1, heparan sulfate-N-deacetylase/N-sulfotransferase, heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1
 
Function
Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:10758005, PubMed:12634318). Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response (PubMed:10758005, PubMed:12634318). Required for the exosomal release of SDCBP, CD63 and syndecan
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF12062 HSNSD
PF00685 Sulfotransfer_1
Pathways
 
KEGG
 
Reactome
 

Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways

 

HS-GAG biosynthesis

Interactions
 
STRING MINT IntAct
ENSP00000261797 P52848
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Developmental Delay
Cerebral Hypoplasia
Endocrine System Diseases
PCOS
Neoplasms
Liver Cancer
Breast Cancer
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Inflammation 
 
Rotterdam Criteria 
Direct 
8 PCOS Subjects and 8 Controls 
We conducted the peripheral-blood transcriptome in PCOS using microarray and identified dysregulated genes involved in inflammatory response. Our data strongly supported the notion that systemic rather than a local inflammatory response is implicated in the etiology of PCOS. 

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412