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{{Infobox_gene}}
{{PBB_Controls
{{enzyme
| update_page = yes
| Name = heparan-alpha-glucosaminide ''N''-acetyltransferase
| require_manual_inspection = no
| EC_number = 2.3.1.78
| update_protein_box = yes
| CAS_number = 79955-83-2
| update_summary = yes
| IUBMB_EC_number = 2/3/1/78
| update_citations = yes
| GO_code = 0015019
}}
| image =  
 
| width =  
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| caption =  
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Heparan-alpha-glucosaminide N-acetyltransferase
| HGNCid = 26527
| Symbol = HGSNAT
| AltSymbols =; DKFZp686G24175; FLJ22242; FLJ32731; HGNAT; MPS3C; TMEM76
| OMIM = 610453
| ECnumber = 
| Homologene = 15586
| MGIid = 
| GeneAtlas_image1 = PBB_GE_HGSNAT_218017_s_at_tn.png
| Function =  
| Component =  
| Process =  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 138050
    | Hs_Ensembl = ENSG00000165102
    | Hs_RefseqProtein = XP_372038
    | Hs_RefseqmRNA = XM_372038
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 43114803
    | Hs_GenLoc_end = 43176122
    | Hs_Uniprot = Q68CP4
    | Mm_EntrezGene = 
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
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{{CMG}}
'''Heparan-alpha-glucosaminide N-acetyltransferase''', also known as '''HGSNAT''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=138050| accessdate = }}</ref>
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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]].<ref name="pmid17033958">{{cite journal |vauthors=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 | title = Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) | journal = Am J Hum Genet | volume = 79 | issue = 5 | pages = 807–19 |date=Oct 2006 | pmid = 17033958 | pmc = 1698556 | doi = 10.1086/508294 }}</ref><ref name="pmid16960811">{{cite journal |vauthors=Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ | title = Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) | journal = Am J Hum Genet | volume = 79 | issue = 4 | pages = 738–44 |date=Sep 2006 | pmid = 16960811 | pmc = 1592569 | doi = 10.1086/508068 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=138050| accessdate = }}</ref>
In [[enzymology]], this enzyme belongs to the family of [[transferase]]s, specifically those [[acyltransferase]]s transferring groups other than [[aminoacyl]] groups. It is [[catalysis|catalysed]] in the [[chemical reaction]]:
:[[acetyl-CoA]] + [[heparan sulfate α-D-glucosaminide]] <math>\rightleftharpoons</math> [[Coenzyme A|CoA]] + [[heparan sulfate N-acetyl-α-D-glucosaminide]]
This enzyme participates in [[glycosaminoglycan]] degradation and [[glycan]] structures degradation. [[Mutation]]s in the gene encoding this enzyme cause [[mucopolysaccharidosis]] IIIC.<ref name="pmid16960811"/>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ausseil J, Loredo-Osti JC, Verner A, ''et al.'' |title=Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. |journal=J. Med. Genet. |volume=41 |issue= 12 |pages= 941-5 |year= 2005 |pmid= 15591281 |doi= 10.1136/jmg.2004.021501 }}
*{{cite journal   |vauthors=Ausseil J, Loredo-Osti JC, Verner A, etal |title=Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. |journal=J. Med. Genet. |volume=41 |issue= 12 |pages= 941–5 |year= 2005 |pmid= 15591281 |doi= 10.1136/jmg.2004.021501 | pmc=1735628 }}
*{{cite journal | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal   |vauthors=Otsuki T, Ota T, Nishikawa T, etal |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Nusbaum C, Mikkelsen TS, Zody MC, ''et al.'' |title=DNA sequence and analysis of human chromosome 8. |journal=Nature |volume=439 |issue= 7074 |pages= 331-5 |year= 2006 |pmid= 16421571 |doi= 10.1038/nature04406 }}
*{{cite journal   |vauthors=Nusbaum C, Mikkelsen TS, Zody MC, etal |title=DNA sequence and analysis of human chromosome 8. |journal=Nature |volume=439 |issue= 7074 |pages= 331–5 |year= 2006 |pmid= 16421571 |doi= 10.1038/nature04406 }}
*{{cite journal | author=Fan X, Zhang H, Zhang S, ''et al.'' |title=Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). |journal=Am. J. Hum. Genet. |volume=79 |issue= 4 |pages= 738-44 |year= 2006 |pmid= 16960811 |doi= 10.1086/508068 }}
*{{cite journal   |vauthors=Fedele AO, Filocamo M, Di Rocco M, etal |title=Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 523 |year= 2007 |pmid= 17397050 |doi= 10.1002/humu.9488 }}
*{{cite journal | author=Hrebícek M, Mrázová L, Seyrantepe V, ''et al.'' |title=Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). |journal=Am. J. Hum. Genet. |volume=79 |issue= 5 |pages= 807-19 |year= 2006 |pmid= 17033958 |doi= 10.1086/508294 }}
* {{cite journal |vauthors=Klein U, Kresse H, von Figura K | date = 1978 | title = Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 75 | pages = 5185&ndash;9  | pmid = 33384 | doi = 10.1073/pnas.75.10.5185 | issue = 10 | pmc = 336290 }}
*{{cite journal | author=Fedele AO, Filocamo M, Di Rocco M, ''et al.'' |title=Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 523 |year= 2007 |pmid= 17397050 |doi= 10.1002/humu.9488 }}
* {{cite journal |vauthors=Pohlmann R, Klein U, Fromme HG, von Figura K | date = 1981 | title = Localisation of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver | journal = Hoppe-Seyler's Z. Physiol. Chem. | volume = 362 | pages = 1199&ndash;207  | pmid = 7346380 | issue = 9 | doi = 10.1515/bchm2.1981.362.2.1199 }}
}}
}}
{{refend}}
{{refend}}


{{gene-8-stub}}
{{Glycosaminoglycan catabolism}}
{{Glycosaminoglycan catabolism}}
{{Acyltransferases}}
{{Enzymes}}
{{Portal bar|Molecular and Cellular Biology|border=no}}
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{{WH}}
[[Category:EC 2.3.1]]
{{WS}}
[[Category:Enzymes of unknown structure]]

Latest revision as of 22:46, 14 November 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human
heparan-alpha-glucosaminide N-acetyltransferase
Identifiers
EC number2.3.1.78
CAS number79955-83-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO

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>\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

  1. ↑ 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.
  2. ↑ 2.0 2.1 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.
  3. ↑ "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase".

Further reading

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