Gene Gene information from NCBI Gene database.
Entrez ID 3340
Gene name N-deacetylase and N-sulfotransferase 1
Gene symbol NDST1
Synonyms (NCBI Gene)
HSSTMRT46NST1
Chromosome 5
Chromosome location 5q33.1
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 fro
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs606231456 G>A Pathogenic Coding sequence variant, missense variant
rs606231457 G>T Pathogenic Coding sequence variant, missense variant
rs606231458 T>C Pathogenic Coding sequence variant, missense variant
rs606231459 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
853
miRTarBase ID miRNA Experiments Reference
MIRT006120 hsa-miR-191-5p GFP reporter assayqRT-PCRWestern blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assayqRT-PCRWestern blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assayqRT-PCRWestern blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assayqRT-PCRWestern blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assayqRT-PCRWestern blot 21947487
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000271 Process Polysaccharide biosynthetic process IEA
GO:0003279 Process Cardiac septum development IEA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 18337501, 35137078
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600853 7680 ENSG00000070614
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52848
Protein name Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (Glucosaminyl N-deacetylase/N-sulfotransferase 1) (NDST-1) (N-heparan sulfate sulfotransferase 1) (N-HSST 1) ([Heparan sulfate]-glucosamine N-sulfotransferase 1) (HSNST 1) [Includes: Heparan
Protein function [Isoform 1]: Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate (PubMed:35137078, PubMed:9230113, PubMed:9744796). Modifies the GlcNAc-Glc
PDB 1NST , 8CCY , 8CD0 , 8CHS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12062 HSNSD 25 515 heparan sulfate-N-deacetylase Family
PF00685 Sulfotransfer_1 604 869 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expression is most abundant in heart, liver and pancreas. {ECO:0000269|PubMed:9230113}.
Sequence
MPALACLRRLCRHVSPQAVLFLLFIFCLFSVFISAYYLYGWKRGLEPSADAPEPDCGDPP
PVAPSRLLPLKPVQAATPSRTDPLVLVFVESLYSQLGQEVVAILESSRFKYRTEIAPGKG
DMPTLTDKGRGRFALIIYENILKYVNLDAWNRELLDKYCVAYGVGIIGFFKANENSLLSA
QLKGFPLFLHSNLGLKDCSINPKSPLLYVTRPSEVEKGVLPGEDWTVFQSNHSTYEPVLL
AKTRSSESIPHLGADAGLHAALHATVVQDLGLHDGIQRVLFGNNLNFWLHKLVFVDAVAF
LTGKRLSLPLDRYILVDIDDIFVGKEGTRMKVEDVKALFDTQNELRAHIPNFTFNLGYSG
KFFHTGTNAEDAGDDLLLSYVKEFWWFPHMWSHMQPHLFHNQSVLAEQMALNKKFAVEHG
IPTDMGYAVAPHHSGVYPVHVQLYEAWKQVWSIRVTSTEEYPHLKPARYRRGFIHNGIMV
LPRQTCGLFTHTIFYNEYPGGSSELDKIINGGELF
LTVLLNPISIFMTHLSNYGNDRLGL
YTFKHLVRFLHSWTNLRLQTLPPVQLAQKYFQIFSEEKDPLWQDPCEDKRHKDIWSKEKT
CDRFPKLLIIGPQKTGTTALYLFLGMHPDLSSNYPSSETFEEIQFFNGHNYHKGIDWYME
FFPIPSNTTSDFYFEKSANYFDSEVAPRRAAALLPKAKVLTILINPADRAYSWYQHQRAH
DDPVALKYTFHEVITAGSDASSKLRALQNRCLVPGWYATHIERWLSAYHANQILVLDGKL
LRTEPAKVMDMVQKFLGVTNTIDYHKTLAFDPKKGFWCQLLEGGKTKCLGKSKGRKYPEM
DLDSRAFLKDYYRDHNIELSKLLYKMGQT
LPTWLREDLQNTR
Sequence length 882
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
  HS-GAG biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Likely pathogenic; Pathogenic rs606231459 RCV002463649
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 46 Pathogenic; Likely pathogenic rs606231456, rs606231457, rs606231458, rs606231459 RCV000148925
RCV000148926
RCV000148927
RCV000148928
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY ClinGen, Disgenet, Orphanet
ClinGen, Disgenet, Orphanet
ClinGen, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 25156775
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25156775 Associate
★☆☆☆☆
Found in Text Mining only
Central visual impairment Central Visual Impairment HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 28864370
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia BEFREE 28363469
★☆☆☆☆
Found in Text Mining only