HGSNAT

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PubMed	articles
NCBI	proteins

heparan-alpha-glucosaminide N-acetyltransferase
heparan-alpha-glucosaminide N-acetyltransferase
Identifiers
EC no.	2.3.1.78
CAS no.	79955-83-2
Databases
BRENDA	enzyme data
ExPASy	NiceZyme view
KEGG	enzyme entry
MetaCyc	metabolic pathway
Rhea	reactions
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / QuickGO
PMC
Search
PMC	articles
PubMed	articles
NCBI	proteins

HGSNAT
Identifiers
Aliases	HGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDs	OMIM: 610453; MGI: 1196297; GeneCards: HGSNAT
Enzyme activity
Gene location (Human)
Chr.	Chromosome 8 (human)
End	43,202,855 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	26,466,781 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	138050
	52120
	ENSG00000165102
	ENSMUSG00000037260
	Q68CP4
	Q3UDW8
	NM_152419; NM_001363227; NM_001363228; NM_001363229; NM_025070
	NM_029884; NM_133970
	NP_689632; NP_001350156; NP_001350157; NP_001350158
	NP_084160
	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

\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 2 3 GRCh38: Ensembl release 89: ENSG00000165102 – Ensembl, May 2017
1 2 3 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.
↑ 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.
1 2 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.
↑ "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase".

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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165102 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid17033958-5] 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.

[pmid16960811-6] 1 2 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.

[entrez-7] "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase".

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

HGSNAT

References

Further reading