Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

HGSNAT Gene

protein-coding   GIFtS: 51
GCID: GC08P042995

Heparan-Alpha-Glucosaminide N-Acetyltransferase

(Previous name: transmembrane protein 76)
(Previous symbol: TMEM76)
  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ii, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HGSNAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: 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
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:

  • UniProtKB: 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 enzyme
  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q68CP4

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

    HGSNAT Protein Expression
    REFSEQ proteins: NP_689632.2  
    ENSEMBL proteins: 
     ENSP00000368965   ENSP00000430032   ENSP00000429109   ENSP00000430151   ENSP00000428322  
     ENSP00000429029   ENSP00000389524   ENSP00000297798  
    Reactome Protein details: Q68CP4
    Human Recombinant Protein Products for HGSNAT: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for HGSNAT
    GenScript Custom Purified and Recombinant Proteins Services for HGSNAT
    Novus Biologicals HGSNAT Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HGSNAT 

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

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

    HGSNAT for ontologies           About GeneDecksing



    HGSNAT Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HGSNAT
    GenScript Custom Superior Antibodies Services for HGSNAT
    Novus Biologicals HGSNAT Antibody
    Search for Antibodies for HGSNAT at Abcam
    Cloud-Clone Corp. Antibodies for HGSNAT 
    Search ThermoFisher Antibodies for HGSNAT
    LSBio Antibodies in human, mouse, rat for HGSNAT 

    Assay Products for HGSNAT: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HGSNAT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HGSNAT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HGSNAT 
    Cloud-Clone Corp. CLIAs for HGSNAT


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

    Graphical View of Domain Structure for InterPro Entry Q68CP4

    ProtoNet protein and cluster: Q68CP4


    HGSNAT 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015019heparan-alpha-glucosaminide N-acetyltransferase activity IEA--
    GO:0016746transferase activity, transferring acyl groups IDA19823584
         
    HGSNAT for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HGSNAT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HGSNAT
    6 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HGSNAT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HGSNAT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HGSNAT
    Sirion Biotech Customized adenovirus for overexpression of HGSNAT

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HGSNAT (see all 5)
    OriGene ORF clones in mouse, rat for HGSNAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HGSNAT (NM_152419)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HGSNAT
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HGSNAT
    Sirion Biotech Customized lentivirus for stable overexpression of HGSNAT 
                         Customized lentivirus expression plasmids for stable overexpression of HGSNAT 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HGSNAT
    Search LifeMap BioReagents cell lines for HGSNAT
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGSNAT


    (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 HGSNAT About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS 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
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG degradation0.40
    4Lysosome
    Lysosome
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/18        Reactome Pathways for HGSNAT (see all 18)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome
    MPS IIIA - Sanfilippo syndrome A


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


    HGSNAT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 5/6 biological process terms (GO ID links to tree view) (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--

    HGSNAT 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about HGSNAT / HGNAT

    (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 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HGSNAT
    6 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HGSNAT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HGSNAT
    Clone
    Products:
         
    OriGene clones in human, mouse for HGSNAT (see all 5)
    OriGene ORF clones in mouse, rat for HGSNAT
    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
    Sirion Biotech Customized lentivirus for stable overexpression of HGSNAT 
                         Customized lentivirus expression plasmids for stable overexpression of HGSNAT 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HGSNAT
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HGSNAT
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HGSNAT
      QIAGEN 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 

    24/252 AceView cDNA sequences (see all 252):

    T07847 BU616317 BX090425 AA782526 AW328331 AI686960 AA778199 BF056807 
    H15830 AA749376 BX115923 BC012452 AL707739 BU684026 AW865678 AA113443 
    BM785837 BM720292 AI286326 AI394146 BM676777 BQ002264 BM997097 BP356612 

    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™, 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

    HGSNAT expression in normal human tissues (normalized intensities)      HGSNAT embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles

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

    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

        SABiosciences Custom PCR Arrays for HGSNAT
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HGSNAT
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HGSNAT
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HGSNAT
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HGSNAT
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HGSNAT gene from 8/14 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 81.49(n)1
    82.34(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_420455.3  XP_420455.3 
    lizard
    (Anolis carolinensis)
    Reptilia HGSNAT6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    6(58874172-58911017)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ389315.12   -- 73.47(n)    BQ389315.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-192p21.61 si:dkey-192p21.6 54.25(n)
    47.38(a)
      565246  NM_001145587.1  NP_001139059.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69031 CG6903 48.13(n)
    41.1(a)
      31423  NM_131970.1  NP_572198.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G277301 heparan-alpha-glucosaminide N-acetyltransferase 44.3(n)
    34.2(a)
      832835  NM_122655.3  NP_568500.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09311001 hypothetical protein 43.24(n)
    30.92(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)
    About This Section
    Paralogs for HGSNAT gene
    18 SIMAP similar genes for HGSNAT using alignment to 9 protein entries:     HGNAT_HUMAN (see all proteins):
    FLJ32731    NSD1    SCLT1    WDR6    CNOT2    SENP7
    KLHDC1    ZNF738    ZNF415    BCL2L13    COX7A2    FANCA
    IFT122    SPSB4    BUB1B    SERF1B    ATL2    SUN3

    HGSNAT 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

    10/1234 SNPs in HGSNAT are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HGSNAT
    DNA2.0 Custom Variant and Variant Library Synthesis for HGSNAT

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

  • 6 diseases for HGSNAT:    About MalaCards
    mucopolysaccharidosis type iiic    mucopolysaccharidosis ii    mucopolysaccharidosis iii    lysosomal storage disease
    mucopolysaccharidosis    morquio syndrome b

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

    HGSNAT for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for HGSNAT gene, integrated from 9 sources (see all 22) (see top 10):
    (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. (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. (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. (2007)
    4. Analysis of the biogenesis of heparan sulfate acetyl- CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanis m underlying its complete deficiency in mucopolysaccharidosis IIIC. (PubMed id 20650889)1, 2 Durand S....Pshezhetsky A.V. (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. (2010)
    6. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) ge ne. (PubMed id 19479962)1, 2 Feldhammer M....Pshezhetsky A.V. (2009)
    7. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (PubMed id 19823584)1, 2 Feldhammer M....Pshezhetsky A.V. (2009)
    8. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (2007)
    9. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    11. Molecular analysis of Sanfilippo syndrome type C in Sp ain: seven novel HGSNAT mutations and characterization of the mutant alleles. (PubMed id 20825431)1 Canals I....Vilageliu L. (2011)
    12. Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis II IC. (PubMed id 21957468)1 Fan X....Mahuran D. (2011)
    13. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    14. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    15. Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. (PubMed id 18518886)1 Coutinho M.F....Alves S. (2008)
    16. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    17. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    18. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    19. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 138050 HGNC: 26527 AceView: FLJ32731 Ensembl:ENSG00000165102 euGenes: HUgn138050
    ECgene: HGSNAT Kegg: 138050 H-InvDB: HGSNAT

    (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 HGSNAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HGSNAT

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HGSNAT  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for HGSNAT  
     OriGene qSTAR qPCR primer pairs in human, mouse for HGSNAT   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for HGSNAT   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HGSNAT   OriGene Custom Protein Services for HGSNAT  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HGSNAT
     QIAGEN SeqTarget long-range PCR primers for resequencing HGSNAT
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HGSNAT
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HGSNAT
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HGSNAT
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HGSNAT
     GenScript Custom Purified and Recombinant Proteins Services for HGSNAT GenScript cDNA clones with any tag delivered in your preferred vector for HGSNAT
     GenScript Custom Assay Services for HGSNAT GenScript Custom Superior Antibodies Services for HGSNAT
     GenScript Custom overexpressing Cell Line Services for HGSNAT CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HGSNAT promoter
     Search Chromatin IP Primers for HGSNAT
     RT2 qPCR Primer Assay in human, mouse, rat HGSNAT
     Search GNC Networks for HGSNAT
     SABiosciences Custom PCR Arrays for HGSNAT
     Search Tocris compounds for HGSNAT (HGNAT)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HGSNAT antibodies
     HGSNAT proteins
     Search for Antibodies for HGSNAT at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for HGSNAT
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for HGSNAT
     Antibodies for HGSNAT
     ELISAs for HGSNAT
     CLIAs for HGSNAT
     Search LifeMap BioReagents cell lines for HGSNAT
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGSNAT
     Browse SwitchGear 3'UTR luciferase reporter plasmids for HGSNAT
     Browse SwitchGear Promoter luciferase reporter plasmids for HGSNAT
     Search ThermoFisher Antibodies for HGSNAT
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HGSNAT
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HGSNAT
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HGSNAT
    Customized:
     lentivirus for stable overexpression of HGSNAT
     lentivirus expression plasmids for stable overexpression of HGSNAT
     adenovirus for overexpression of HGSNAT
     LSBio Antibodies in human, mouse, rat for HGSNAT
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HGSNAT gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4