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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDST1 Gene

protein-coding   GIFtS: 60
GCID: GC05P149881

N-deacetylase/N-sulfotransferase (heparan glucosaminyl)...


(Previous symbol: HSST)
 Explore 10 diseases affiliated with
NDST1 via our new
 Human Malady Compendium 
Biological research products
for NDST1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
N-Deacetylase/N-Sulfotransferase (Heparan Glucosaminyl) 11 2     N-Heparan Sulfate Sulfotransferase 12 3
HSST1 2 3 5     N-HSST 12 3
NST11 2     Bifunctional Heparan Sulfate N-Deacetylase/N-Sulfotransferase 12
Glucosaminyl N-Deacetylase/N-Sulfotransferase 12 3     Heparan Sulfate-N-Deacetylase/N-Sulfotransferase2
NDST-12 3     EC 2.8.2.83
[Heparan Sulfate]-Glucosamine N-Sulfotransferase 12 3     HSST13
HSNST 12 3     

External Ids:    HGNC: 76801   Entrez Gene: 33402   Ensembl: ENSG000000706147   OMIM: 6008535   UniProtKB: P528483   

Export aliases for NDST1 gene to outside databases

Previous GC identifers: GC05P149956 GC05P150484 GC05P149916 GC05P149929 GC05P145034


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: NDST1_HUMAN, P52848
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

Gene Wiki entry for NDST1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDST1 gene promoter:
         c-Fos   AP-1   p53   JunB   Fra-1   FosB   Olf-1   PPAR-gamma1   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDST1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDST1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDST1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33.1   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q33.1

NDST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDST1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P149881:  view genomic region     (about GC identifiers)

Start:
149,865,381 bp from pter      End:
149,937,773 bp from pter
Size:
72,393 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NDST1_HUMAN, P52848 (See protein sequence)
Recommended Name: Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1  
Size: 882 amino acids; 100868 Da
Subunit: Monomer
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
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
1 PDB 3D structure from and Proteopedia for NDST1:
1NST (3D)    
Secondary accessions: Q96E57
Alternative splicing: 2 isoforms:  P52848-1   P52848-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDST1: NX_P52848

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P52848

  • NDST1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001534.1  
    ENSEMBL proteins: 
     ENSP00000429966   ENSP00000427813   ENSP00000428604   ENSP00000430258   ENSP00000261797  
    Reactome Protein details: P52848
    Human Recombinant Protein Products: 
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    Uscn Proteins for NDST1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral to membrane IEA--


    NDST1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NDST1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NDST1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR021930 Heparan_SO4_deacetylase
     IPR000863 Sulfotransferase_dom

    Graphical View of Domain Structure for InterPro Entry P52848

    ProtoNet protein and cluster: P52848

    1 Blocks protein family: IPB001848 Ribosomal protein S10

    UniProtKB/Swiss-Prot: NDST1_HUMAN, P52848
    Similarity: Belongs to the sulfotransferase 1 family. NDST subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NDST1_HUMAN, P52848
    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
    Catalytic activity: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate +
    [heparan sulfate]-N-sulfoglucosamine
    Biophysicochemical properties: Kinetic parameters: KM=13.3 uM for K5 polysaccharide; KM=0.35 uM for N-acetylated HS-II;

         Genatlas biochemistry entry for NDST1:
    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

    Enzyme Number (IUBMB): EC 2.8.2.81

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    hsa-miR-323-3p hsa-miR-140-5p hsa-miR-4254 hsa-miR-376b hsa-miR-3146 hsa-miR-1914* hsa-miR-128 hsa-miR-342-3p
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity ----
    GO:0015016[heparan sulfate]-glucosamine N-sulfotransferase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0019213deacetylase activity IEA--


    NDST1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for NDST1: Ndst1tm1Ekf Ndst1tm1.1Grob Ndst1tm1Hgx
         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ndst1):
     cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  mortality/aging  nervous system 
     respiratory system  skeleton  taste/olfaction  vision/eye 

    NDST1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/16 pathways (see all 16)
    MPS VI - Maroteaux-Lamy syndrome1.00
    MPS IIIA - Sanfilippo syndrome A1.00
    MPS IIIC - Sanfilippo syndrome C1.00
    MPS IIID - Sanfilippo syndrome D1.00
    MPS I - Hurler syndrome1.00
    MPS IX - Natowicz syndrome1.00
    Mucopolysaccharidoses1.00
    MPS II - Hunter syndrome1.00
    2heparan sulfate biosynthesis
    heparan sulfate biosynthesis1.00
    heparan sulfate biosynthesis (late stages)0.78
    Glycosaminoglycan biosynthesis - heparan sulfate0.83
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Disease
    Disease1.00
    5Biological oxidations
    metapathway biotransformation0.41

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 BioSystems Pathways for NDST1 
        heparan sulfate biosynthesis (late stages)
    heparan sulfate biosynthesis
    metapathway biotransformation

    5/18        Reactome Pathways for NDST1 (see all 18)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    HS-GAG biosynthesis
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for NDST1):
        Glycosaminoglycan biosynthesis - heparan sulfate
    Metabolic pathways

    UniProtKB/Swiss-Prot: NDST1_HUMAN, P52848
    Pathway: Glycan metabolism; heparan sulfate biosynthesis
    Pathway: Glycan metabolism; heparin biosynthesis


    NDST1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for NDST1 (ENSP000002617974) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGRNENSP000003686784STRING: ENSP00000368678
    EXT1ENSP000003674464STRING: ENSP00000367446
    EXT2ENSP000003426564STRING: ENSP00000342656
    GLCEENSP000002618584STRING: ENSP00000261858
    GPC1ENSP000002640394STRING: ENSP00000264039
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IEA--
    GO:0000271polysaccharide biosynthetic process IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0006477protein sulfation ----


    NDST1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NDST1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDST1

    1 DrugBank Compound for NDST1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-3'-5'-Diphosphate-- --target----

    4 Novoseek chemical compound relationships for NDST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 81 15 12590599 (4), 19889634 (2), 9744796 (1), 8838814 (1) (see all 9)
    n-acetylglucosamine 57.6 2 19889634 (1), 12202251 (1)
    sulfate 56.7 2 19940140 (1), 12202251 (1)
    heparin 52.1 3 19915053 (1), 7629189 (1), 12202251 (1)

    Search CenterWatch for drugs/clinical trials and news about NDST1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NDST1 gene: 
    NM_001543.4  

    Unigene Cluster for NDST1:

    N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
    Hs.222055  [show with all ESTs]
    Unigene Representative Sequence: NM_001543
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522491 ENST00000519157 ENST00000524161 ENST00000523767(uc003lsl.3)
    ENST00000518299 ENST00000518346 ENST00000261797(uc011dcj.2 uc003lsk.4)
    ENST00000523350 ENST00000521752

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    hsa-miR-323-3p hsa-miR-140-5p hsa-miR-4254 hsa-miR-376b hsa-miR-3146 hsa-miR-1914* hsa-miR-128 hsa-miR-342-3p
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    Additional cDNA sequence: 

    AK292448.1 AK293746.1 BC012888.1 BC015828.2 BC131513.1 U17970.1 U18918.1 U18932.1 
    U36600.1 

    11 DOTS entries:

    DT.116212  DT.91686924  DT.95261834  DT.100723259  DT.95261822  DT.120875178  DT.40109419  DT.75168746 
    DT.75183660  DT.91974002  DT.70104323 

    24/233 AceView cDNA sequences (see all 233):

    AI393203 BQ009695 BQ222664 AA351065 AI282120 CA848705 BF732297 BQ009379 
    BC015828 BG419721 CA842766 AI248383 AI948500 BQ014041 BQ018847 BI196282 
    BF222885 CA313885 AA328353 BG820896 BU619329 BM720334 BE741140 CA441914 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NDST1    About this scheme

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


    ECgene alternative splicing isoforms for NDST1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCATTTCCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    NDST1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Umbilical CordUmbilical VeinsUmbilical Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney

    See NDST1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDST1

    SOURCE GeneReport for Unigene cluster: Hs.222055

    UniProtKB/Swiss-Prot: NDST1_HUMAN, P52848
    Tissue specificity: Widely expressed. Expression is most abundant in heart, liver and pancreas

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NDST1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndst11 , 5 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) more1, 5 90.78(n)1
    97.73(a)1
      18 (34.38 cM)5
    155311  NM_008306.41  NP_032332.21 
     606859785 
    chicken
    (Gallus gallus)
    Aves NDST11 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) more 83.77(n)
    93.16(a)
      416274  XM_414592.2  XP_414592.2 
    lizard
    (Anolis carolinensis)
    Reptilia NDST16
    --
    94(a)
    1 ↔ 1
    AAWZ02036268(3248-18711)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.140522 Xenopus laevis transcribed sequence with moderate similarity more 77.45(n)    CF286058.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc84h022 Transcribed sequence with moderate similarity to protein more 76.74(n)    57095756 
    fruit fly
    (Drosophila melanogaster)
    Insecta sfl3 cell surface receptor linked signal
    transduction more
    53(a)     --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDST1 gene
    HS3ST22  HS3ST12  NDST22  HS3ST3B12  HS3ST42  HS3ST62  HS3ST3A12  HS3ST52  
    NDST42  NDST32  
    4 SIMAP similar genes for NDST1 using alignment to 6 protein entries:     NDST1_HUMAN (see all proteins):
    NDST4    NDST2    NDST3    HS3ST4

    NDST1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/957 NCBI SNPs in NDST1 are shown (see all 957    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349376901,2
    C--145072021(+) CTGTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs68972381,2
    C,--149885759(+) cctcaA/Gcctcc 1 -- us2k12Minor allele frequency- G:0.12NA WA 120
    rs1398928111,2
    --149885765(+) CCTCCG/TGGGCT 1 -- us2k10--------
    rs781366061,2
    C,F,--149885784(+) CCTCGC/TACCTC 1 -- us2k11Minor allele frequency- T:0.11NA 120
    rs800295791,2
    F,--149885788(+) GCACCT/GCAGCC 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs750264321,2
    F,--149885828(+) CACTAC/TGCTGT 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs728059641,2
    C,--149886007(+) CTCGCG/AGGCCT 1 -- us2k14Minor allele frequency- A:0.17CSA WA NA EA 359
    rs1876306161,2
    --149886057(+) TGGAAA/CCCTGG 1 -- us2k10--------
    rs797405281,2
    F,--149886096(+) CCCTGC/TGAGGT 1 -- us2k11Minor allele frequency- T:0.12WA 118
    rs177996431,2
    C,F,H,--149886116(+) AGTCTC/TGCTGA 1 -- us2k116Minor allele frequency- N:0.00NA EA NS CSA WA 1414

    HapMap Linkage Disequilibrium report for NDST1 (149865381 - 149937773 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NDST1
         1 CNV: 3580
    Human Gene Mutation Database (HGMD): NDST1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDST1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDST1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NDST1 for disorders           About GeneDecksing

    OMIM gene information: 600853    OMIM disorders: --

    10 diseases for NDST1:    About MalaCards
    treacher collins syndrome    goldenhar syndrome    coronary heart disease    nephrosis
    hermaphroditism    meningioma    colorectal cancer    nephropathy
    melanoma    adenocarcinoma

    1 Novoseek disease relationship for NDST1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    treacher collins syndrome 75.2 1 8838814 (1)

    Human Genome Epidemiology (HuGE) Navigator: NDST1 (3 documents)

    Export disorders for NDST1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NDST1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with NDST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of human heparan glucosaminyl N-deacetylase/N- sulphotransferase to the trans-Golgi network. (PubMed id 9230113)1, 2, 3 Humphries D.E.... Stow J.L. (1997)
    2. Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32- q33.1. (PubMed id 7601448)1, 2, 3 Dixon J....Dixon M.J. (1995)
    3. A role of Lys614 in the sulfotransferase activity of human heparan sulfate N-deacetylase/N-sulfotransferase. (PubMed id 9744796)1, 2, 9 Sueyoshi T....Negishi M. (1998)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Antibody-based assay for N-deacetylase activity of heparan sulfate/heparin N-deacetylase/N-sulfotransferase (NDST): novel characteristics of NDST-1 and -2. (PubMed id 12634318)1, 2 van den Born J....Berden J.H.M. (2003)
    6. Overexpression of different isoforms of glucosaminyl N-deacetylase/N- sulfotransferase results in distinct heparan sulfate N-sulfation patterns. (PubMed id 10758005)1, 2 Pikas D.S.... Kjellen L. (2000)
    7. Crystal structure of the sulfotransferase domain of human heparan sulfate N-deacetylase/N-sulfotransferase 1. (PubMed id 10196134)1, 2 Kakuta Y.... Pedersen L.C. (1999)
    8. Distinct effects on heparan sulfate structure by different active site mutations in NDST-1. (PubMed id 12590599)1, 9 Bengtsson J....Kjellen L. (2003)
    9. Mast cell differentiation and activation is closely l inked to expression of genes coding for the serglycin proteoglycan core protein and a distinct set of chondroitin sulfate and heparin sulfotransferases. (PubMed id 19915053)1, 9 Duelli A....Pejler G. (2009)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3340 HGNC: 7680 AceView: NDST1 Ensembl:ENSG00000070614 euGenes: HUgn3340
    ECgene: NDST1 Kegg: 3340 H-InvDB: NDST1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDST1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDST1 gene:
    Search GeneIP for patents involving NDST1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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