Biology:HGSNAT
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
| heparan-alpha-glucosaminide N-acetyltransferase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC number | 2.3.1.78 | ||||||||
| CAS number | 79955-83-2 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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Heparan-α-glucosaminide N-acetyltransferase (also called "acetyl-CoA:heparan-α-D-glucosaminide N-acetyltransferase" and "acetyl-CoA:alpha-glucosaminide N-acetyltransferase") is an enzyme that in humans is encoded by the HGSNAT gene.[1][2][3]
In enzymology, this enzyme belongs to the family of transferases, specifically those acyltransferases transferring groups other than aminoacyl groups. It is catalysed in the chemical reaction:
- acetyl-CoA + heparan sulfate α-D-glucosaminide [math]\displaystyle{ \rightleftharpoons }[/math] CoA + heparan sulfate N-acetyl-α-D-glucosaminide
This enzyme participates in glycosaminoglycan degradation and glycan structures degradation. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.[2]
References
- ↑ "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)". Am J Hum Genet 79 (5): 807–19. Oct 2006. doi:10.1086/508294. PMID 17033958.
- ↑ 2.0 2.1 "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)". Am J Hum Genet 79 (4): 738–44. Sep 2006. doi:10.1086/508068. PMID 16960811.
- ↑ "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=138050.
Further reading
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.". J. Med. Genet. 41 (12): 941–5. 2005. doi:10.1136/jmg.2004.021501. PMID 15591281.
- "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. 2007. doi:10.1093/dnares/12.2.117. PMID 16303743.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "DNA sequence and analysis of human chromosome 8.". Nature 439 (7074): 331–5. 2006. doi:10.1038/nature04406. PMID 16421571. Bibcode: 2006Natur.439..331N.
- "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.". Hum. Mutat. 28 (5): 523. 2007. doi:10.1002/humu.9488. PMID 17397050.
- "Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts". Proc. Natl. Acad. Sci. U.S.A. 75 (10): 5185–9. 1978. doi:10.1073/pnas.75.10.5185. PMID 33384.
- "Localisation of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver". Hoppe-Seyler's Z. Physiol. Chem. 362 (9): 1199–207. 1981. doi:10.1515/bchm2.1981.362.2.1199. PMID 7346380.
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