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

NDST1 Gene

protein-coding   GIFtS: 61
GCID: GC05P149881

N-Deacetylase/N-Sulfotransferase (Heparan Glucosaminyl)...


(Previous symbol: HSST)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Deacetylase/N-Sulfotransferase (Heparan Glucosaminyl) 11 2     N-HSST 12 3
HSST1 2 3 5     NST12
Glucosaminyl N-Deacetylase/N-Sulfotransferase 12 3     Bifunctional Heparan Sulfate N-Deacetylase/N-Sulfotransferase 12
NDST-12 3     Heparan Sulfate-N-Deacetylase/N-Sulfotransferase2
[Heparan Sulfate]-Glucosamine N-Sulfotransferase 12 3     EC 2.8.2.83
HSNST 12 3     HSST13
N-Heparan Sulfate Sulfotransferase 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

GeneCards Summary for NDST1 Gene: 
NDST1 (N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1) is a protein-coding gene. Diseases associated with NDST1 include treacher collins syndrome, and goldenhar syndrome, and among its related super-pathways are Glycosaminoglycan biosynthesis - heparan sulfate / heparin and Metabolic pathways. GO annotations related to this gene include [heparan sulfate]-glucosamine N-sulfotransferase activity and deacetylase activity. An important paralog of this gene is HS3ST2.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NDST1 at MOPED 

Post-translational modifications:

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

  • NDST1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDST1 Protein Expression
    REFSEQ proteins: NP_001534.1  
    ENSEMBL proteins: 
     ENSP00000429966   ENSP00000427813   ENSP00000428604   ENSP00000430258   ENSP00000261797  
    Reactome Protein details: P52848
    Human Recombinant Protein Products for NDST1: 
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    Novus Biologicals NDST1 Proteins
    Novus Biologicals NDST1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SULTM: Sulfotransferases, membrane-bound

    3 InterPro protein domains:
     IPR000863 Sulfotransferase_dom
     IPR027417 P-loop_NTPase
     IPR021930 Heparan_SO4_deacetylase

    Graphical View of Domain Structure for InterPro Entry P52848

    ProtoNet protein and cluster: P52848

    1 Blocks protein domain: IPB001848 Ribosomal protein S10

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


    NDST1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for NDST1: Ndst1tm1Ekf Ndst1tm1.1Grob Ndst1tm1Hgx

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NDST1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NDST1 About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.77
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    4Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG biosynthesis0.56
    5Biological oxidations
    metapathway biotransformation0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    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 / heparin
    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 IEA--

    NDST1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NDST1

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

    4 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522491 ENST00000519157 ENST00000524161 ENST00000523767(uc003lsl.3)
    ENST00000518299 ENST00000518346 ENST00000261797(uc011dcj.2 uc003lsk.4)
    ENST00000521752
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    Additional mRNA 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):

    BM557135 AW515350 CA848705 BG820896 AI381848 CA313885 BU619329 BF732297 
    AI248383 CA441914 BQ014041 CK430160 AI948500 BE741140 BQ222664 AI282120 
    CD368014 AA351065 BG419721 CB155688 BQ009695 CB529866 AW079556 BM720334 

    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)      NDST1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTTCCTG
    NDST1 Expression
    About this image


    NDST1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Intestine (Gastrointestinal Tract)
             SMALL INTESTINE   

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    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

        SABiosciences Custom PCR Arrays for NDST1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDST1

    (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 7/14 species (see all 14)    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
    --
    Uncharacterized protein
    94(a)
    89(a)
    1 ↔ 1
    possible ortholog
    AAWZ02036268(3248-20559)
    2(138711847-138729553)
    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)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hst-13 N-heparan sulfate sulfotransferase 44(a)   IV(8688631-8691631)   --


    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  ZSWIM8-AS12  HS3ST12  HS3ST3B12  HS3ST42  HS3ST62  HS3ST52  HS3ST3A12  
    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, 4UniProtKB, 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

    10/1203 SNPs in NDST1 are shown (see all 1203)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs675770921,2
    C--145044327(-) TCCTG-/GAGGAA
            
    GGGTA
    1 -- int12Minor allele frequency- GAGGAA:0.25NA 4
    rs3694859101,2
    C--145046441(-) CCATC-/AGT/  
      CAAGGA
    CAAGG
    2 -- cds10--------
    rs68972381,2
    C,F--149885759(+) cctcaA/Gcctcc 1 -- us2k12Minor allele frequency- G:0.12NA WA 120
    rs1398928111,2
    C--149885765(+) CCTCCG/TGGGCT 1 -- us2k10--------
    rs781366061,2
    C,F--149885784(+) CCTCGC/TACCTC 1 -- us2k11Minor allele frequency- T:0.11NA 120
    rs800295791,2
    C,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
    C,F--149886096(+) CCCTGC/TGAGGT 1 -- us2k11Minor allele frequency- T:0.12WA 118

    HapMap Linkage Disequilibrium report for NDST1 (149865381 - 149937773 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NDST1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663682CNV Deletion23128226
    esv2671150CNV Deletion23128226
    nsv509095CNV Insertion20534489
    nsv883031CNV Loss21882294
    nsv462488CNV Loss19166990
    dgv1862e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): NDST1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600853    OMIM disorders: --

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


    NDST1 for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): NDST1
    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. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    6. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PubMed id 19336475)1, 4 Drenos F....Hingorani A.D. (2009)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

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

      Query String
    PubMed
    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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    About This Section

     
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