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Aliases for NDST1 Gene

Aliases for NDST1 Gene

  • N-Deacetylase/N-Sulfotransferase (Heparan Glucosaminyl) 1 2 3
  • HSST 3 4 6
  • [Heparan Sulfate]-Glucosamine N-Sulfotransferase 1 3 4
  • Glucosaminyl N-Deacetylase/N-Sulfotransferase 1 3 4
  • N-Heparan Sulfate Sulfotransferase 1 3 4
  • N-HSST 1 3 4
  • HSNST 1 3 4
  • NDST-1 3 4
  • Bifunctional Heparan Sulfate N-Deacetylase/N-Sulfotransferase 1 3
  • 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 Symbols for NDST1 Gene

  • HSST

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 (Heparan Glucosaminyl) 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 Disease and Metabolism. GO annotations related to this gene include deacetylase activity and [heparan sulfate]-glucosamine N-sulfotransferase 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. 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.

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

Genomic Location for NDST1 Gene

Start:
150,485,805 bp from pter
End:
150,558,211 bp from pter
Size:
72,407 bases
Orientation:
Plus strand

Genomic View for NDST1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDST1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn231, Asn351, Asn401, and Asn667

Other Protein References for NDST1 Gene

No data available for DME Specific Peptides for NDST1 Gene

Domains for NDST1 Gene

Gene Families for NDST1 Gene

HGNC:
  • SULTM :Sulfotransferases, membrane-bound

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
Family:
  • Belongs to the sulfotransferase 1 family. NDST subfamily.:
    • P52848
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. 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.

Enzyme Numbers (IUBMB) for NDST1 Gene

Gene Ontology (GO) - Molecular Function for NDST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008146 sulfotransferase activity --
GO:0015016 [heparan sulfate]-glucosamine N-sulfotransferase activity IEA --
GO:0016787 hydrolase activity --
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

Animal Models for NDST1 Gene

MGI Knock Outs for NDST1:

No data available for Transcription Factor Targeting 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
cytosol 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NDST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDST1: view

Pathways 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:0000271 polysaccharide biosynthetic process IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0006954 inflammatory response IEA --
genes like me logo Genes that share ontologies with NDST1: view

Compounds for NDST1 Gene

(1) Drugbank Compounds for NDST1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-3'-5'-Diphosphate
target

(4) Novoseek inferred chemical compound relationships for NDST1 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 81 13
n-acetylglucosamine 57.6 2
sulfate 56.7 2
heparin 52.1 3
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

Integrated Proteomics: protein expression 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 expressions with NDST1: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia NDST1 35
  • 99.36 (n)
  • 99.77 (a)
NDST1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia NDST1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDST1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndst1 35
  • 91.23 (n)
  • 97.96 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.14052 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ndst1 35
  • 77.05 (n)
  • 89.2 (a)
zebrafish
(Danio rerio)
Actinopterygii CU468924.1 36
  • 73 (a)
OneToMany
LOC100329944 35
  • 71.42 (n)
  • 73.9 (a)
NDST1 (2 of 2) 36
  • 70 (a)
OneToMany
wufc84h02 35
fruit fly
(Drosophila melanogaster)
Insecta sfl 36
  • 45 (a)
OneToMany
sfl 37
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea hst-1 36
  • 43 (a)
OneToMany
hst-1 37
  • 44 (a)
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

Selected 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 MAF
rs11994 -- 150,558,177(-) TAGTT(C/T)GAGAT utr-variant-3-prime
rs253293 -- 150,558,394(-) TTCCA(C/T)TTATA intron-variant, downstream-variant-500B
rs253294 -- 150,558,337(-) TGTGT(A/G)CATAC intron-variant, downstream-variant-500B
rs753261 -- 150,512,167(+) TCAGC(A/C)CCCAC intron-variant
rs888765 -- 150,546,037(+) CTGTA(G/T)CCCAG 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

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

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.

(1) Novoseek inferred disease relationships for NDST1 Gene

Disease -log(P) Hits PubMed IDs
treacher collins syndrome 75.2 1

Relevant External Links for NDST1

Genetic Association Database (GAD)
NDST1
Human Genome Epidemiology (HuGE) Navigator
NDST1
genes like me logo Genes that share disorders with NDST1: view

Publications for NDST1 Gene

  1. 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 4 23
  2. 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 4
  3. 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
  4. 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
  5. Distinct effects on heparan sulfate structure by different active site mutations in NDST-1. (PMID: 12590599) Bengtsson J. … KjellAcn L. (Biochemistry 2003) 3 23

Products for NDST1 Gene

Sources for NDST1 Gene

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