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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT46
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:0003279 Process Cardiac septum development IEA
GO:0005515 Function Protein binding IPI 18337501
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0006024 Process Glycosaminoglycan biosynthetic process TAS
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Gastrointestinal stromal tumor Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512
View all (59 more)
27793025
Mental retardation Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992, 25125150
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability GenCC
Associations from Text Mining
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