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Aliases for NDST1 Gene

Aliases for NDST1 Gene

  • N-Deacetylase/N-Sulfotransferase 1 2 3
  • N-Deacetylase/N-Sulfotransferase (Heparan Glucosaminyl) 1 2 3 5
  • [Heparan Sulfate]-Glucosamine N-Sulfotransferase 1 2 3 4
  • Heparan Sulfate/Heparin GlcNAc N-Deacetylase/GlcN N-Sulfotransferase 1 2 3
  • Glucosaminyl N-Deacetylase/N-Sulfotransferase 1 3 4
  • N-Heparan Sulfate Sulfotransferase 1 3 4
  • N-Deacetylase-N-Sulfotransferase 1 2 3
  • N-HSST 1 3 4
  • HSNST 1 3 4
  • NDST-1 3 4
  • HSST 3 4
  • Heparan Sulfate-N-Deacetylase/N-Sulfotransferase 3
  • EC 2.8.2.8 4
  • MRT46 3
  • HSST1 4
  • NST1 3

External Ids for NDST1 Gene

Previous HGNC Symbols for NDST1 Gene

  • HSST

Previous GeneCards Identifiers for NDST1 Gene

  • GC05P149956
  • GC05P149916
  • GC05P149929
  • GC05P149881
  • GC05P145034

Summaries for NDST1 Gene

Entrez Gene Summary for NDST1 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 from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for NDST1 Gene

NDST1 (N-Deacetylase/N-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with NDST1 include mental retardation, autosomal recessive 46 and autosomal recessive non-syndromic intellectual disability. Among its related pathways are heparan sulfate biosynthesis and Metabolism. GO annotations related to this gene include hydrolase activity and deacetylase activity. An important paralog of this gene is NDST4.

UniProtKB/Swiss-Prot for NDST1 Gene

  • 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 (PubMed:22660413).

Gene Wiki entry for NDST1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDST1 Gene

Genomics for NDST1 Gene

Regulatory Elements for NDST1 Gene

Enhancers for NDST1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NDST1 on UCSC Golden Path with GeneCards custom track

Promoters for NDST1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDST1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDST1 Gene

Chromosome:
5
Start:
150,485,818 bp from pter
End:
150,558,211 bp from pter
Size:
72,394 bases
Orientation:
Plus strand

Genomic View for NDST1 Gene

Genes around NDST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDST1 Gene

Proteins for NDST1 Gene

  • Protein details for NDST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52848-NDST1_HUMAN
    Recommended name:
    Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1
    Protein Accession:
    P52848
    Secondary Accessions:
    • Q96E57

    Protein attributes for NDST1 Gene

    Size:
    882 amino acids
    Molecular mass:
    100868 Da
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • The presence of 4 different heparan sulfate N-deacetylase/N-sulfotransferase enzymes in mammals, as well as differences in their enzyme activity suggest that some initiate heparan sulfate modification/sulfation reactions, whereas other later on fill in or extend already modified heparan sulfate sequences.

    Three dimensional structures from OCA and Proteopedia for NDST1 Gene

    Alternative splice isoforms for NDST1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDST1 Gene

Proteomics data for NDST1 Gene at MOPED

Post-translational modifications for NDST1 Gene

  • Glycosylation at Asn 231, Asn 351, Asn 401, and Asn 667
  • Modification sites at PhosphoSitePlus

Other Protein References for NDST1 Gene

No data available for DME Specific Peptides for NDST1 Gene

Domains & Families for NDST1 Gene

Gene Families for NDST1 Gene

Protein Domains for NDST1 Gene

Suggested Antigen Peptide Sequences for NDST1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P52848

UniProtKB/Swiss-Prot:

NDST1_HUMAN :
  • Belongs to the sulfotransferase 1 family. NDST subfamily.
Family:
  • Belongs to the sulfotransferase 1 family. NDST subfamily.
genes like me logo Genes that share domains with NDST1: view

Function for NDST1 Gene

Molecular function for NDST1 Gene

GENATLAS Biochemistry:
heparan sulfate-N-deacetylase N-sulfotransferase,cytosolic (not involved in TCOF1),initiating and rate-limiting step in the formation of the protein-binding domain of heparan sulfate
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=13.3 uM for K5 polysaccharide {ECO:0000269 PubMed:12634318}; KM=0.35 uM for N-acetylated HS-II {ECO:0000269 PubMed:12634318};
UniProtKB/Swiss-Prot CatalyticActivity:
3-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3,5-bisphosphate + [heparan sulfate]-N-sulfoglucosamine.
UniProtKB/Swiss-Prot 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 (PubMed:22660413).

Enzyme Numbers (IUBMB) for NDST1 Gene

Gene Ontology (GO) - Molecular Function for NDST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019213 deacetylase activity IEA --
genes like me logo Genes that share ontologies with NDST1: view
genes like me logo Genes that share phenotypes with NDST1: view

Human Phenotype Ontology for NDST1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDST1 Gene

MGI Knock Outs for NDST1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for NDST1 Gene

Localization for NDST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDST1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDST1 Gene COMPARTMENTS Subcellular localization image for NDST1 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 2
extracellular 2
cytosol 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for NDST1 Gene

Pathways & Interactions for NDST1 Gene

genes like me logo Genes that share pathways with NDST1: view

UniProtKB/Swiss-Prot P52848-NDST1_HUMAN

  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparin biosynthesis.

Interacting Proteins for NDST1 Gene

Gene Ontology (GO) - Biological Process for NDST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0006954 inflammatory response IEA --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with NDST1: view

No data available for SIGNOR curated interactions for NDST1 Gene

Drugs & Compounds for NDST1 Gene

(2) Drugs for NDST1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine-3'-5'-Diphosphate Experimental Pharma Target 0

(5) Additional Compounds for NDST1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
482-67-7
genes like me logo Genes that share compounds with NDST1: view

Transcripts for NDST1 Gene

Unigene Clusters for NDST1 Gene

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDST1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8
SP1: -
SP2:
SP3:

Relevant External Links for NDST1 Gene

GeneLoc Exon Structure for
NDST1
ECgene alternative splicing isoforms for
NDST1

Expression for NDST1 Gene

mRNA expression in normal human tissues for NDST1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDST1 Gene

This gene is overexpressed in Testis (33.1), Esophagus (15.6), and Peripheral blood mononuclear cells (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDST1 Gene



SOURCE GeneReport for Unigene cluster for NDST1 Gene Hs.222055

mRNA Expression by UniProt/SwissProt for NDST1 Gene

P52848-NDST1_HUMAN
Tissue specificity: Widely expressed. Expression is most abundant in heart, liver and pancreas.
genes like me logo Genes that share expression patterns with NDST1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NDST1 Gene

Orthologs for NDST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDST1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDST1 35
  • 92.86 (n)
  • 98.19 (a)
NDST1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDST1 35
  • 93.5 (n)
  • 98.75 (a)
NDST1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndst1 35
  • 90.78 (n)
  • 97.73 (a)
Ndst1 16
Ndst1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDST1 35
  • 99.36 (n)
  • 99.77 (a)
NDST1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndst1 35
  • 91.23 (n)
  • 97.96 (a)
oppossum
(Monodelphis domestica)
Mammalia NDST1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDST1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDST1 35
  • 83.77 (n)
  • 93.16 (a)
NDST1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDST1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndst1 35
  • 77.05 (n)
  • 89.2 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14052 35
zebrafish
(Danio rerio)
Actinopterygii LOC100329944 35
  • 71.42 (n)
  • 73.9 (a)
wufc84h02 35
CU468924.1 36
  • 73 (a)
OneToMany
NDST1 (2 of 2) 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sfl 37
  • 53 (a)
sfl 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hst-1 37
  • 44 (a)
hst-1 36
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for NDST1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDST1 Gene

ENSEMBL:
Gene Tree for NDST1 (if available)
TreeFam:
Gene Tree for NDST1 (if available)

Paralogs for NDST1 Gene

(4) SIMAP similar genes for NDST1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with NDST1: view

Variants for NDST1 Gene

Sequence variations from dbSNP and Humsavar for NDST1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_072646 Mental retardation, autosomal recessive 46 (MRT46)
VAR_072647 Mental retardation, autosomal recessive 46 (MRT46)
VAR_072648 Mental retardation, autosomal recessive 46 (MRT46)
VAR_072649 Mental retardation, autosomal recessive 46 (MRT46)
rs753261 -- 150,512,167(+) TCAGC(A/C)CCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDST1 Gene

Variant ID Type Subtype PubMed ID
dgv1862e1 CNV Complex 17122850
nsv462488 CNV Loss 19166990
nsv883031 CNV Loss 21882294
esv2663682 CNV Deletion 23128226
esv2671150 CNV Deletion 23128226
nsv509095 CNV Insertion 20534489

Variation tolerance for NDST1 Gene

Residual Variation Intolerance Score: 2.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDST1 Gene

HapMap Linkage Disequilibrium report
NDST1
Human Gene Mutation Database (HGMD)
NDST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDST1 Gene

Disorders for NDST1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NDST1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 46
  • mrt46
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
treacher collins syndrome 1
  • treacher collins syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NDST1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NDST1_HUMAN
  • Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self-injurious behavior, and sleep disturbances. {ECO:0000269 PubMed:25125150}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDST1

Genetic Association Database (GAD)
NDST1
Human Genome Epidemiology (HuGE) Navigator
NDST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDST1
genes like me logo Genes that share disorders with NDST1: view

No data available for Genatlas for NDST1 Gene

Publications for NDST1 Gene

  1. Localization of human heparan glucosaminyl N-deacetylase/N- sulphotransferase to the trans-Golgi network. (PMID: 9230113) Humphries D.E. … Stow J.L. (Biochem. J. 1997) 2 3 4 67
  2. Mast cell differentiation and activation is closely linked to expression of genes coding for the serglycin proteoglycan core protein and a distinct set of chondroitin sulfate and heparin sulfotransferases. (PMID: 19915053) Duelli A. … Pejler G. (J. Immunol. 2009) 3 23
  3. Distinct effects on heparan sulfate structure by different active site mutations in NDST-1. (PMID: 12590599) Bengtsson J. … KjellAcn L. (Biochemistry 2003) 3 23
  4. A role of Lys614 in the sulfotransferase activity of human heparan sulfate N-deacetylase/N-sulfotransferase. (PMID: 9744796) Sueyoshi T. … Negishi M. (FEBS Lett. 1998) 3 23
  5. Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32- q33.1. (PMID: 7601448) Dixon J. … Dixon M.J. (Genomics 1995) 2 3

Products for NDST1 Gene

Sources for NDST1 Gene

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