HGSNAT
| HGSNAT | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 8: 43.14 – 43.2 Mb | Chr 8: 26.43 – 26.47 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
| heparan-alpha-glucosaminide N-acetyltransferase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
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.[5][6][7]
In
aminoacyl groups. It is catalysed in the chemical reaction
:
This enzyme participates in glycosaminoglycan degradation and glycan structures degradation. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000165102 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037260 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 17033958.
- ^ PMID 16960811.
- ^ "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase".
Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Ausseil J, Loredo-Osti JC, Verner A, et al. (2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8". J. Med. Genet. 41 (12): 941–5. PMID 15591281.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "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. PMID 16303743.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. PMID 16344560.
- Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331–5. PMID 16421571.
- Fedele AO, Filocamo M, Di Rocco M, et al. (2007). "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. S2CID 21940082.
- Klein U, Kresse H, von Figura K (1978). "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. PMID 33384.
- Pohlmann R, Klein U, Fromme HG, von Figura K (1981). "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. PMID 7346380.
