• Gene id: 3340

Gene Summary

• Gene Symbol: NDST1   Gene   UCSC   Ensembl
• Aliases: HSST, MRT46, NST1
• Gene name: N-deacetylase and N-sulfotransferase 1
• Alternate names: 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, [H,
• Gene location: 5q33.1 (150497778: 150558210)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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 fro
• OMIM: 600853

Protein Summary

• Protein general information: P52848  
  • Name: Bifunctional heparan sulfate N deacetylase/N sulfotransferase 1 (EC 2.8.2.8) (Glucosaminyl N deacetylase/N sulfotransferase 1) (NDST 1) (N heparan sulfate sulfotransferase 1) (N HSST 1) ([Heparan sulfate] glucosamine N sulfotransferase 1) (HSNST 1) [Inclu
  • Length: 882  
  • Mass: 100868
  • Tissue specificity: Widely expressed. Expression is most abundant in heart, liver and pancreas.
• Sequence:

  MPALACLRRLCRHVSPQAVLFLLFIFCLFSVFISAYYLYGWKRGLEPSADAPEPDCGDPPPVAPSRLLPLKPVQA
  ATPSRTDPLVLVFVESLYSQLGQEVVAILESSRFKYRTEIAPGKGDMPTLTDKGRGRFALIIYENILKYVNLDAW
  NRELLDKYCVAYGVGIIGFFKANENSLLSAQLKGFPLFLHSNLGLKDCSINPKSPLLYVTRPSEVEKGVLPGEDW
  TVFQSNHSTYEPVLLAKTRSSESIPHLGADAGLHAALHATVVQDLGLHDGIQRVLFGNNLNFWLHKLVFVDAVAF
  LTGKRLSLPLDRYILVDIDDIFVGKEGTRMKVEDVKALFDTQNELRAHIPNFTFNLGYSGKFFHTGTNAEDAGDD
  LLLSYVKEFWWFPHMWSHMQPHLFHNQSVLAEQMALNKKFAVEHGIPTDMGYAVAPHHSGVYPVHVQLYEAWKQV
  WSIRVTSTEEYPHLKPARYRRGFIHNGIMVLPRQTCGLFTHTIFYNEYPGGSSELDKIINGGELFLTVLLNPISI
  FMTHLSNYGNDRLGLYTFKHLVRFLHSWTNLRLQTLPPVQLAQKYFQIFSEEKDPLWQDPCEDKRHKDIWSKEKT
  CDRFPKLLIIGPQKTGTTALYLFLGMHPDLSSNYPSSETFEEIQFFNGHNYHKGIDWYMEFFPIPSNTTSDFYFE
  KSANYFDSEVAPRRAAALLPKAKVLTILINPADRAYSWYQHQRAHDDPVALKYTFHEVITAGSDASSKLRALQNR
  CLVPGWYATHIERWLSAYHANQILVLDGKLLRTEPAKVMDMVQKFLGVTNTIDYHKTLAFDPKKGFWCQLLEGGK
  TKCLGKSKGRKYPEMDLDSRAFLKDYYRDHNIELSKLLYKMGQTLPTWLREDLQNTR

• Structural information:
  • Interpro: IPR021930  IPR037359  IPR027417  IPR000863  
  • PDB: 1NST
  • PDBsum: 1NST
  • STRING: ENSP00000261797
• Other Databases: GeneCards:  NDST1  Malacards:  NDST1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IBA	biological process
GO:0015016	[heparan sulfate]-glucosamine N-sulfotransferase activity	IBA	molecular function
GO:0019213	deacetylase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008146	sulfotransferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0015016	[heparan sulfate]-glucosamine N-sulfotransferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0015016	[heparan sulfate]-glucosamine N-sulfotransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0102140	heparan sulfate N-deacetylase activity	IEA	molecular function
GO:0060976	coronary vasculature development	IEA	biological process
GO:0048703	embryonic viscerocranium morphogenesis	IEA	biological process
GO:0048702	embryonic neurocranium morphogenesis	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0008146	sulfotransferase activity	IEA	molecular function
GO:0000271	polysaccharide biosynthetic process	IEA	biological process
GO:0015016	[heparan sulfate]-glucosamine N-sulfotransferase activity	IEA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0035904	aorta development	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030203	glycosaminoglycan metabolic process	IEA	biological process
GO:0019213	deacetylase activity	IEA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006477	protein sulfation	IEA	biological process
GO:0003279	cardiac septum development	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0030210	heparin biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq