Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)
[Edit]HGNAT; MPS3C; TMEM76; Transmembrane Protein 76
HGSNAT and the mouse ortholog and demonstrated that it is the gene that encodes the lysosomal N-acetyltransferase. HGSNAT did not show structural similarity to any known prokaryotic or eukaryotic N-acetyltransferase or to other lysosomal proteins, on the basis of sequence homology searches. The authors suggested that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane.
The deduced 656-amino acid protein with a calculated molecular mass of 73 kD contains an N-terminal signal peptide, 4 putative N-glycosylation sites, and 11 transmembrane domains. Topology modeling predicted the N terminus to be inside the lysosome and the C terminus to be cytosolic.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT) | ELISA Kit Customized Service Offer |
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
- "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
- "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)."Am. J. Hum. Genet. 79:738-744(2006) [PubMed] [Europe PMC] [Abstract]
- "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
- "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
- "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
- "Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C."PLoS ONE 4:E7434-E7434(2009) [PubMed] [Europe PMC] [Abstract]
- "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."J. Biol. Chem. 285:31233-31242(2010) [PubMed] [Europe PMC] [Abstract]
- "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
- "Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)." Am. J. Hum. Genet. 79:807-819(2006) [PubMed] [Europe PMC] [Abstract]
- "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online."Hum. Mutat. 28:523-523(2007) [PubMed] [Europe PMC] [Abstract]
- "Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands."Mol. Genet. Metab. 93:104-111(2008) [PubMed] [Europe PMC] [Abstract]
- "Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene."Hum. Mutat. 30:918-925(2009) [PubMed] [Europe PMC] [Abstract]
- "Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)."Hum. Mutat. 31:E1574-E1586(2010) [PubMed] [Europe PMC] [Abstract]