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Index > Protein center > HGSNAT(Gene name) > Human
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  • HGSNAT (Gene name),
  • Heparan-alpha-glucosaminide N-acetyltransferase (Protein name ),  HGNAT_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    HGSNAT(TMEM76);
    Protein name:
    Heparan-alpha-glucosaminide N-acetyltransferase;
    Alternative:
    Transmembrane protein 76;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homooligomer. Homooligomerization is necessary for enzyme activity.
    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.
    Subcellular Location:
    Lysosome membrane Multi-pass membrane protein 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.
    Protein Attributes:
    Sequence length:
    663
    Sequence:
    50:
    MTGARASAAE | QRRAGRSGQA | RAAERAAGMS | GAGRALAALL | LAASVLSAAL | 
    100:
    LAPGGSSGRD | AQAAPPRDLD | KKRHAELKMD | QALLLIHNEL | LWTNLTVYWK | 
    150:
    SECCYHCLFQ | VLVNVPQSPK | AGKPSAAAAS | VSTQHGSILQ | LNDTLEEKEV | 
    200:
    CRLEYRFGEF | GNYSLLVKNI | HNGVSEIACD | LAVNEDPVDS | NLPVSIAFLI | 
    250:
    GLAVIIVISF | LRLLLSLDDF | NNWISKAISS | RETDRLINSE | LGSPSRTDPL | 
    300:
    DGDVQPATWR | LSALPPRLRS | VDTFRGIALI | LMVFVNYGGG | KYWYFKHASW | 
    350:
    NGLTVADLVF | PWFVFIMGSS | IFLSMTSILQ | RGCSKFRLLG | KIAWRSFLLI | 
    400:
    CIGIIIVNPN | YCLGPLSWDK | VRIPGVLQRL | GVTYFVVAVL | ELLFAKPVPE | 
    450:
    HCASERSCLS | LRDITSSWPQ | WLLILVLEGL | WLGLTFLLPV | PGCPTGYLGP | 
    500:
    GGIGDFGKYP | NCTGGAAGYI | DRLLLGDDHL | YQHPSSAVLY | HTEVAYDPEG | 
    550:
    ILGTINSIVM | AFLGVQAGKI | LLYYKARTKD | ILIRFTAWCC | ILGLISVALT | 
    600:
    KVSENEGFIP | VNKNLWSLSY | VTTLSSFAFF | ILLVLYPVVD | VKGLWTGTPF | 
    650:
    FYPGMNSILV | YVGHEVFENY | FPFQWKLKDN | QSHKEHLTQN | IVATALWVLI | 
    663:
    AYILYRKKIF | WKI
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    Pfam:
    UniGene:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human Heparan-alpha-glucosaminide N-acetyltransferase
    ELISA Kit for Human Heparan-alpha-glucosaminide N-acetyltransferase
    CLIA Kit for Human Heparan-alpha-glucosaminide N-acetyltransferase
    CLIA Kit for Human Heparan-alpha-glucosaminide N-acetyltransferase
    Polyclonal Antibody for Human Heparan-alpha-glucosaminide N-acetyltransferase
    Polyclonal Antibody for Human Heparan-alpha-glucosaminide N-acetyltransferase
    Monoclonal Antibody for Human Heparan-alpha-glucosaminide N-acetyltransferase
    Monoclonal Antibody for Human Heparan-alpha-glucosaminide N-acetyltransferase
    Protein for Human Heparan-alpha-glucosaminide N-acetyltransferase
    Protein for Human Heparan-alpha-glucosaminide N-acetyltransferase

    R&D Technical Data
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    Precision
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Recovery
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Linearity
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
    1. 1.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
      tissue: Trachea.
    2. 3.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 265-663 (ISOFORMS 1/2)
      tissue: Uterus.
    3. 4.
      "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)."
      Fan X. , Zhang H. , Zhang S. , Bagshaw R.D. , Tropak M.B. , Callahan J.W. , Mahuran D.J.
      Am. J. Hum. Genet.79:738-744(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MPS3C;FUNCTION;CATALYTIC ACTIVITY;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
    4. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
      tissue: Placenta.
    5. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    6. 7.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-142
      tissue: Liver.
    7. 8.
      "Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C."
      Feldhammer M. , Durand S. , Pshezhetsky A.V.
      PLoS ONE4:E7434-E7434(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;GLYCOSYLATION;CHARACTERIZATION OF VARIANTS PHE-104; PRO-165; GLN-265; ARG-290; LYS-301; LEU-311; HIS-372; CYS-431; SER-452; LYS-499; LEU-509; LYS-510; GLU-517; PHE-546; GLN-551; CYS-567; LEU-569; VAL-590; LEU-599 AND THR-643
    8. 9.
      "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."
      Durand S. , Feldhammer M. , Bonneil E. , Thibault P. , Pshezhetsky A.V.
      J. Biol. Chem.285:31233-31242(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;ACTIVE SITE;ALTERNATIVE INITIATION (ISOFORMS 1 AND 2);SUBUNIT;CHARACTERIZATION OF VARIANT PHE-104;MUTAGENESIS OF CYS-107; CYS-151; CYS-179; LEU-236; ILE-237; HIS-297; CYS-333; CYS-402; CYS-462; HIS-479 AND HIS-633;IDENTIFICATION BY MASS SPECTROMETRY
    9. 10.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-245;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    10. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MPS3C PHE-104; LEU-311; CYS-372; HIS-372; CYS-431; SER-452; LYS-499; LYS-510; LEU-569; VAL-590 AND LEU-599;VARIANTS GLN-265; GLN-551 AND THR-643;FUNCTION;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
    11. 12.
      "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online."
      Fedele A.O. , Filocamo M. , Di Rocco M. , Sersale G. , Luebke T. , di Natale P. , Cosma M.P. , Ballabio A.
      Hum. Mutat.28:523-523(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MPS3C PRO-165 AND PHE-546;VARIANT GLN-265
    12. 13.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MPS3C PRO-165; ARG-280; LYS-301; CYS-372; LYS-499; PHE-546 AND CYS-567;VARIANT GLN-265
    13. 14.
      "Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene."
      Feldhammer M. , Durand S. , Mrazova L. , Boucher R.-M. , Laframboise R. , Steinfeld R. , Wraith J.E. , Michelakakis H. , van Diggelen O.P. , Hrebicek M. , Kmoch S. , Pshezhetsky A.V.
      Hum. Mutat.30:918-925(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MPS3C PRO-165; LEU-311; CYS-372; CYS-431; LYS-499; GLU-514; GLU-517; PHE-546 AND LEU-569;VARIANTS GLN-265; LEU-509; GLN-551 AND THR-643;CHARACTERIZATION OF VARIANT MPS3C CYS-431;CHARACTERIZATION OF VARIANTS GLN-265; LEU-509; GLN-551 AND THR-643
    14. 15.
      "Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)."
      Fedele A.O. , Hopwood J.J.
      Hum. Mutat.31:E1574-E1586(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS MPS3C PHE-104; PRO-165; ARG-290; LEU-311; CYS-372; CYS-431; SER-452; LYS-499; LYS-510; GLU-514; GLU-517; PHE-546; CYS-567; LEU-569; VAL-590 AND LEU-599;CHARACTERIZATION OF VARIANTS GLN-265; LEU-509; GLN-551 AND THR-643
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