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HGSNAT
Identifiers
Aliases	HGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDs	OMIM: 610453; MGI: 1196297; HomoloGene: 15586; GeneCards: HGSNAT; OMA:HGSNAT - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8p11.21-p11.1 Start 43,140,464 bp End 43,202,855 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 A2|8 14.22 cM Start 26,434,481 bp End 26,466,781 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa right uterine tube stromal cell of endometrium canal of the cervix left ovary right ovary tibial nerve left uterine tube body of uterus skin of leg Top expressed in stroma of bone marrow granulocyte decidua adrenal gland pontine nuclei ankle molar left lobe of liver optic nerve Medulla Oblongata More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity acyltransferase activity heparan-alpha-glucosaminide N-acetyltransferase activity Cellular component integral component of membrane lysosomal membrane lysosome membrane plasma membrane specific granule membrane tertiary granule membrane Biological process lysosomal transport glycosaminoglycan catabolic process protein complex oligomerization neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 138050 52120 Ensembl ENSG00000165102 ENSMUSG00000037260 UniProt Q68CP4 Q3UDW8 RefSeq (mRNA) NM_152419 NM_001363227 NM_001363228 NM_001363229 NM_025070 NM_029884 NM_133970 RefSeq (protein) NP_689632 NP_001350156 NP_001350157 NP_001350158 NP_084160 Location (UCSC) Chr 8: 43.14 – 43.2 Mb Chr 8: 26.43 – 26.47 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

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 ${\displaystyle \rightleftharpoons }$ 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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000165102 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000037260 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV (Oct 2006). "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)". Am J Hum Genet. 79 (5): 807–19. doi:10.1086/508294. PMC 1698556. PMID 17033958.
6. ^ Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ (Sep 2006). "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)". Am J Hum Genet. 79 (4): 738–44. doi:10.1086/508068. PMC 1592569. PMID 16960811.
7. "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1038/ng1285. 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. doi:10.1136/jmg.2004.021501. PMC 1735628. 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. doi:10.1093/dnares/12.2.117. 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. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331–5. Bibcode:2006Natur.439..331N. doi:10.1038/nature04406. 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. doi:10.1002/humu.9488. PMID 17397050. 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. Bibcode:1978PNAS...75.5185K. doi:10.1073/pnas.75.10.5185. PMC 336290. 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. doi:10.1515/bchm2.1981.362.2.1199. PMID 7346380.

• Biology

• Genes on human chromosome 8
• EC 2.3.1
• Enzymes of unknown structure