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HGSNAT Gene

protein-coding   GIFtS: 53
GCID: GC08P042995

Heparan-Alpha-Glucosaminide N-Acetyltransferase

(Previous name: transmembrane protein 76)
(Previous symbol: TMEM76)
  See HGSNAT-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)
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Aliases
Heparan-Alpha-Glucosaminide N-Acetyltransferase1 2
TMEM761 2 3 5
Transmembrane Protein 761 2 3
MPS3C2 5
HGNAT2
EC 2.3.1.783

External Ids:    HGNC: 265271   Entrez Gene: 1380502   Ensembl: ENSG000001651027   OMIM: 6104535   UniProtKB: Q68CP43   

Export aliases for HGSNAT gene to outside databases

Previous GC identifers: GC08P043117 GC08P041520


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HGSNAT Gene:
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal
degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the
lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate.
(provided by RefSeq, Jan 2009)

GeneCards Summary for HGSNAT Gene:
HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase) is a protein-coding gene. Diseases associated with HGSNAT include mucopolysaccharidosis type iiic, and mucopolysaccharidosis iii. GO annotations related to this gene include heparan-alpha-glucosaminide N-acetyltransferase activity and transferase activity, transferring acyl groups.

UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4
Function: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of
intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl
glucosaminidase

Gene Wiki entry for HGSNAT 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HGSNAT gene promoter:
         HOXA9B   HOXA9   GR   Pbx1a   LCR-F1   Meis-1b   GR-alpha   AP-2alpha   AP-2alphaA   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HGSNAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HGSNAT


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

Entrez Gene cytogenetic band: 8p11.1   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.1

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P042995:  view genomic region     (about GC identifiers)

Start:
42,995,556 bp from pter      End:
43,057,998 bp from pter
Size:
62,443 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4 (See protein sequence)
Recommended Name: Heparan-alpha-glucosaminide N-acetyltransferase  
Size: 663 amino acids; 73293 Da
Subunit: Homooligomer. Homooligomerization is necessary for enzyme activity
Miscellaneous: A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic
Secondary accessions: B4E2V0
Alternative initiation: 2 isoforms:  Q68CP4-1   Q68CP4-2   (Intralysosomal proteolytic cleavage is faster and enzymatic activity higher than isoform 2)

Explore the universe of human proteins at neXtProt for HGSNAT: NX_Q68CP4

Explore proteomics data for HGSNAT at MOPED

Post-translational modifications: 

  • Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the
    second luminal domain and is essential for the activation of the enzyme1
  • Glycosylated1
  • Glycosylation2 at Asn94, Asn142, Asn162, Asn461
  • Modification sites at PhosphoSitePlus

  • See HGSNAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689632.2  
    ENSEMBL proteins: 
     ENSP00000368965   ENSP00000430032   ENSP00000429109   ENSP00000430151   ENSP00000428322  
     ENSP00000429029   ENSP00000389524   ENSP00000297798  
    Reactome Protein details: Q68CP4

    HGSNAT Human Recombinant Protein Products:

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    Novus Biologicals HGSNAT Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for HGSNAT

     
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    LSBio Antibodies in human, mouse, rat for HGSNAT

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    Search eBioscience for ELISAs for HGSNAT 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012429 DUF1624

    Graphical View of Domain Structure for InterPro Entry Q68CP4

    ProtoNet protein and cluster: Q68CP4


    Find genes that share domains with HGSNAT           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HGNAT_HUMAN, Q68CP4
    Function: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of
    intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl
    glucosaminidase
    Catalytic activity: Acetyl-CoA + heparan sulfate alpha-D-glucosaminide = CoA + heparan sulfate
    N-acetyl-alpha-D-glucosaminide

         Enzyme Number (IUBMB): EC 2.3.1.781

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015019heparan-alpha-glucosaminide N-acetyltransferase activity IEA--
    GO:0016746transferase activity, transferring acyl groups IDA19823584
         
    Find genes that share ontologies with HGSNAT           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HGSNAT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HGSNAT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HGSNAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HGSNAT

    miRNA
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    miRTarBase miRNAs that target HGSNAT:
    hsa-mir-615-3p (MIRT039742)

    Block miRNA regulation of human, mouse, rat HGSNAT using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate HGSNAT:
    hsa-miR-3164 hsa-miR-623 hsa-miR-3938 hsa-miR-224 hsa-miR-204 hsa-miR-211
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HGSNAT

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGSNAT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HGNAT_HUMAN, Q68CP4: Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker
    LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is
    probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine-
    and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane3
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with HGSNAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HGSNAT About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Lysosome
    Lysosome
    3Glycosaminoglycan degradation
    Glycosaminoglycan degradation


    Find genes that share SuperPaths with HGSNAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for HGSNAT (see first 5)
        HS-GAG degradation


    3 Kegg Pathways  (Kegg details for HGSNAT):
        Glycosaminoglycan degradation
    Metabolic pathways
    Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HGSNAT
    Interactions:

        Search GeneGlobe Interaction Network for HGSNAT

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for HGSNAT (ENSP000003689654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NAGLUENSP000002259274STRING: ENSP00000225927
    SGSHENSP000003146064STRING: ENSP00000314606
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0007041lysosomal transport IDA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with HGSNAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HGSNAT (HGNAT)

    3 HMDB Compounds for HGSNAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Heparan sulfateHHS 5 (see all 13)9050-30-0--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HGSNAT gene: 
    NM_152419.2  

    Unigene Cluster for HGSNAT:

    Heparan-alpha-glucosaminide N-acetyltransferase
    Hs.600384  [show with all ESTs]
    Unigene Representative Sequence: NM_152419
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379644 ENST00000517319 ENST00000520704 ENST00000522082 ENST00000524016
    ENST00000521576 ENST00000519000 ENST00000520678 ENST00000523989 ENST00000519705
    ENST00000458501(uc003xpx.4) ENST00000297798
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate HGSNAT:
    hsa-miR-3164 hsa-miR-623 hsa-miR-3938 hsa-miR-224 hsa-miR-204 hsa-miR-211
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat HGSNAT
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HGSNAT (NM_152419)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HGSNAT
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HGSNAT
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat HGSNAT
      QuantiFast Probe-based Assays in human, mouse, rat HGSNAT

    Additional mRNA sequence: 

    AK025895.1 AK057293.1 AK074839.1 AK304441.1 AK308922.1 AL355714.1 AL832870.1 BC012452.1 
    BC042037.1 BC050672.1 BC056149.1 CR457352.1 CR749838.1 

    19 DOTS entries:

    DT.443544  DT.451524  DT.101984185  DT.100686948  DT.408044  DT.92452256  DT.95073394  DT.100643187 
    DT.121490772  DT.100787696  DT.121490787  DT.70104568  DT.121490711  DT.121490780  DT.86849721  DT.92020733 
    DT.92452257  DT.95360470  DT.95365032 

    Selected AceView cDNA sequences (see all 252):

    AW328331 BC012452 BC056149 AA113443 BM997097 AI457154 AA578650 CA428040 
    N66976 BM785837 AA782526 BU616317 CA448447 AI934128 AA428245 AW082392 
    BX090425 AW054976 BQ890295 BF940828 AI566431 BF056807 AI394146 AI686960 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HGSNAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCCAAACA
    HGSNAT Expression
    About this image


    HGSNAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
    HGSNAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HGSNAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.600384

    UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4
    Tissue specificity: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung,
    placenta and liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGSNAT

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HGSNAT gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hgsnat1 , 5 heparan-alpha-glucosaminide N-acetyltransferase1, 5 81.11(n)1
    82.17(a)1
      8 (14.22 cM)5
    521201  NM_029884.11  NP_084160.11 
     259444595 
    chicken
    (Gallus gallus)
    Aves HGSNAT1 heparan-alpha-glucosaminide N-acetyltransferase 65.35(n)
    63.17(a)
      422490  XM_420455.4  XP_420455.3 
    lizard
    (Anolis carolinensis)
    Reptilia HGSNAT6
    heparan-alpha-glucosaminide N-acetyltransferase
    64(a)
    1 ↔ 1
    6(58874172-58911017)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ389315.12   -- 73.47(n)    BQ389315.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hgsnat1 heparan-alpha-glucosaminide N-acetyltransferase 59.79(n)
    57.19(a)
      100329505  XM_002660409.2  XP_002660455.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69031 CG6903 48.44(n)
    41.28(a)
      31423  NM_131970.1  NP_572198.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G277301 AT5G27730 44.7(n)
    34.63(a)
      832835  NM_122655.3  NP_568500.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09311001 Os01g0931100 43.64(n)
    31.88(a)
      4326815  NM_001051829.1  NP_001045294.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HGSNAT gene
    Selected SIMAP similar genes for HGSNAT using alignment to 9 protein entries:     HGNAT_HUMAN (see all proteins) (see all similar genes):
    FLJ32731    NSD1    SCLT1    WDR6    CNOT2    SENP7
    KLHDC1    ZNF738    ZNF415    ECD    BCL2L13    COX7A2
    FANCA    IFT122    SPSB4    BUB1B    SERF1B    ATL2

    Find genes that share paralogs with HGSNAT           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HGSNAT (see all 1234)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0639894
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0639892 R H mis40--------
    VAR_0300904
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0300902 P L mis40--------
    VAR_0300864
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0300862 E K mis40--------
    VAR_0639924
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0639922 G E mis40--------
    VAR_0639864
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0639862 I R mis40--------
    VAR_0639834
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0639832 C F mis40--------
    VAR_0300834
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0300832 P L mis40--------
    VAR_0639944
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0639942 S F mis40--------
    VAR_0639934
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0639932 A E mis40--------
    VAR_0300854
    Mucopolysaccharidosis 3C (MPS3C)4--see VAR_0300852 G S mis40--------

    HapMap Linkage Disequilibrium report for HGSNAT (42995556 - 43057998 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HGSNAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674702CNV Deletion23128226
    nsv831302CNV Loss17160897
    nsv470208CNV Gain18288195
    nsv890846CNV Gain21882294
    dgv883n27CNV Gain19166990
    nsv519841CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): HGSNAT
    Locus Specific Mutation Databases (LSDB): HGSNAT

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610453   
    OMIM disorders: 252930  
    UniProtKB/Swiss-Prot: HGNAT_HUMAN, Q68CP4
  • Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal
    recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by
    severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually
    occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of
    age, and death occurs typically during the second or third decade of life. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 3 diseases for HGSNAT:    
    About MalaCards
    mucopolysaccharidosis type iiic    mucopolysaccharidosis iii    lysosomal storage disease

    1 disease from the University of Copenhagen DISEASES database for HGSNAT:
    Mucopolysaccharidosis

    Find genes that share disorders with HGSNAT           About GenesLikeMe


    Export disorders for HGSNAT 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)
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    PubMed articles for HGSNAT gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with HGSNAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (PubMed id 17033958)1, 2, 3 Hrebicek M.... Pshezhetsky A.V. (Am. J. Hum. Genet. 2006)
    2. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). (PubMed id 16960811)1, 2, 3 Fan X....Mahuran D.J. (Am. J. Hum. Genet. 2006)
    3. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. (PubMed id 17397050)1, 2, 9 Fedele A.O.... Ballabio A. (Hum. Mutat. 2007)
    4. Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha- glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. (PubMed id 20650889)1, 2 Durand S.... Pshezhetsky A.V. (J. Biol. Chem. 2010)
    5. Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). (PubMed id 20583299)1, 2 Fedele A.O. and Hopwood J.J. (Hum. Mutat. 2010)
    6. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. (PubMed id 19479962)1, 2 Feldhammer M.... Pshezhetsky A.V. (Hum. Mutat. 2009)
    7. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (PubMed id 19823584)1, 2 Feldhammer M.... Pshezhetsky A.V. (PLoS ONE 2009)
    8. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)
    9. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (Nature 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 138050 HGNC: 26527 AceView: FLJ32731 Ensembl:ENSG00000165102 euGenes: HUgn138050
    ECgene: HGSNAT Kegg: 138050 H-InvDB: HGSNAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HGSNAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HGSNAT[genesymbol]

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

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



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