Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3340
Gene name Gene Name - the full gene name approved by the HGNC.
N-deacetylase and N-sulfotransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDST1
Synonyms (NCBI Gene) Gene synonyms aliases
HSST, MRT46, NST1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006120 hsa-miR-191-5p GFP reporter assay, qRT-PCR, Western blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assay, qRT-PCR, Western blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assay, qRT-PCR, Western blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assay, qRT-PCR, Western blot 21947487
MIRT006120 hsa-miR-191-5p GFP reporter assay, qRT-PCR, Western blot 21947487
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600853 7680 ENSG00000070614
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 46 rs606231456, rs606231457, rs606231458, rs606231459 N/A
Developmental Delay global developmental delay rs606231459 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25156775
Disease Resistance Associate 37908128
Glioma Associate 29104277
Hernias Diaphragmatic Congenital Associate 32039782
Holoprosencephaly Associate 30508070
Intellectual Disability Associate 32878022
Meningioma Associate 11535722
Neoplasm Metastasis Associate 29940912