Izvorni kôd stranice HGSNAT

{{Infokutija gen}}
{{infokutija protein
| Ime = Heparan-alfa-glukozaminid ''N''-acetiltransferaza
| EC_number = 2.3.1.78
| CAS_number = 79955-83-2
| IUBMB_EC_number = 2/3/1/78
| GO_code = 0015019
| image = 
| width = 
| caption = 
}}
'''Heparan-α-glukozaminid ''N''-acetiltransferaza''' (zvana i "'''acetyl-CoA:heparan-α-D-glukozaminid ''N''-acetiltransferaza'''" i "'''acetil-CoA:alfa-glukozaminid ''N''-acetiltransferaza'''") je [[enzim]] koji je kod [[ljudi]] [[kodon|kodiran]] [[gen]]om '''HGSNAT'''.<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}}</ref>
==Aminokiselinska sekvenca==
Dužina [[polipeptid]]nog lanca je  663 [[aminokiseline]], а [[molekularna masa|molekulska težina]]  73.293 [[dalton (jedinica)|Da]].<ref name="UniProt">{{cite web|url=http://www.uniprot.org/uniprot/Q68CP4#sequences |title=UniProt, Q68CP4 |language=en |access-date=19. 9. 2021}}</ref>
{{legenda aminokiselina}}
<table  style="font-family:monospace;">
<tr style="text-align:right;"><th>10</th><th></th><th>20</th><th></th><th>30</th><th></th><th>40</th><th></th><th>50</th></tr>
<tr style="background-color: #eee;"><td>MTGARASAAE</td><td style="background-color: #f9f9f9;"></td><td>QRRAGRSGQA</td><td style="background-color: #f9f9f9;"></td><td>RAAERAAGMS</td><td style="background-color: #f9f9f9;"></td><td>GAGRALAALL</td><td style="background-color: #f9f9f9;"></td><td>LAASVLSAAL</td></tr>
<tr style="background-color: #eee;"><td>LAPGGSSGRD</td><td style="background-color: #f9f9f9;"></td><td>AQAAPPRDLD</td><td style="background-color: #f9f9f9;"></td><td>KKRHAELKMD</td><td style="background-color: #f9f9f9;"></td><td>QALLLIHNEL</td><td style="background-color: #f9f9f9;"></td><td>LWTNLTVYWK</td></tr>
<tr style="background-color: #eee;"><td>SECCYHCLFQ</td><td style="background-color: #f9f9f9;"></td><td>VLVNVPQSPK</td><td style="background-color: #f9f9f9;"></td><td>AGKPSAAAAS</td><td style="background-color: #f9f9f9;"></td><td>VSTQHGSILQ</td><td style="background-color: #f9f9f9;"></td><td>LNDTLEEKEV</td></tr>
<tr style="background-color: #eee;"><td>CRLEYRFGEF</td><td style="background-color: #f9f9f9;"></td><td>GNYSLLVKNI</td><td style="background-color: #f9f9f9;"></td><td>HNGVSEIACD</td><td style="background-color: #f9f9f9;"></td><td>LAVNEDPVDS</td><td style="background-color: #f9f9f9;"></td><td>NLPVSIAFLI</td></tr>
<tr style="background-color: #eee;"><td>GLAVIIVISF</td><td style="background-color: #f9f9f9;"></td><td>LRLLLSLDDF</td><td style="background-color: #f9f9f9;"></td><td>NNWISKAISS</td><td style="background-color: #f9f9f9;"></td><td>RETDRLINSE</td><td style="background-color: #f9f9f9;"></td><td>LGSPSRTDPL</td></tr>
<tr style="background-color: #eee;"><td>DGDVQPATWR</td><td style="background-color: #f9f9f9;"></td><td>LSALPPRLRS</td><td style="background-color: #f9f9f9;"></td><td>VDTFRGIALI</td><td style="background-color: #f9f9f9;"></td><td>LMVFVNYGGG</td><td style="background-color: #f9f9f9;"></td><td>KYWYFKHASW</td></tr>
<tr style="background-color: #eee;"><td>NGLTVADLVF</td><td style="background-color: #f9f9f9;"></td><td>PWFVFIMGSS</td><td style="background-color: #f9f9f9;"></td><td>IFLSMTSILQ</td><td style="background-color: #f9f9f9;"></td><td>RGCSKFRLLG</td><td style="background-color: #f9f9f9;"></td><td>KIAWRSFLLI</td></tr>
<tr style="background-color: #eee;"><td>CIGIIIVNPN</td><td style="background-color: #f9f9f9;"></td><td>YCLGPLSWDK</td><td style="background-color: #f9f9f9;"></td><td>VRIPGVLQRL</td><td style="background-color: #f9f9f9;"></td><td>GVTYFVVAVL</td><td style="background-color: #f9f9f9;"></td><td>ELLFAKPVPE</td></tr>
<tr style="background-color: #eee;"><td>HCASERSCLS</td><td style="background-color: #f9f9f9;"></td><td>LRDITSSWPQ</td><td style="background-color: #f9f9f9;"></td><td>WLLILVLEGL</td><td style="background-color: #f9f9f9;"></td><td>WLGLTFLLPV</td><td style="background-color: #f9f9f9;"></td><td>PGCPTGYLGP</td></tr>
<tr style="background-color: #eee;"><td>GGIGDFGKYP</td><td style="background-color: #f9f9f9;"></td><td>NCTGGAAGYI</td><td style="background-color: #f9f9f9;"></td><td>DRLLLGDDHL</td><td style="background-color: #f9f9f9;"></td><td>YQHPSSAVLY</td><td style="background-color: #f9f9f9;"></td><td>HTEVAYDPEG</td></tr>
<tr style="background-color: #eee;"><td>ILGTINSIVM</td><td style="background-color: #f9f9f9;"></td><td>AFLGVQAGKI</td><td style="background-color: #f9f9f9;"></td><td>LLYYKARTKD</td><td style="background-color: #f9f9f9;"></td><td>ILIRFTAWCC</td><td style="background-color: #f9f9f9;"></td><td>ILGLISVALT</td></tr>
<tr style="background-color: #eee;"><td>KVSENEGFIP</td><td style="background-color: #f9f9f9;"></td><td>VNKNLWSLSY</td><td style="background-color: #f9f9f9;"></td><td>VTTLSSFAFF</td><td style="background-color: #f9f9f9;"></td><td>ILLVLYPVVD</td><td style="background-color: #f9f9f9;"></td><td>VKGLWTGTPF</td></tr>
<tr style="background-color: #eee;"><td>FYPGMNSILV</td><td style="background-color: #f9f9f9;"></td><td>YVGHEVFENY</td><td style="background-color: #f9f9f9;"></td><td>FPFQWKLKDN</td><td style="background-color: #f9f9f9;"></td><td>QSHKEHLTQN</td><td style="background-color: #f9f9f9;"></td><td>IVATALWVLI</td></tr>
<tr style="background-color: #eee;"><td>AYILYRKKIF</td><td style="background-color: #f9f9f9;"></td><td>WKI</td></tr>
</table>
==Funkcija==
U [[enzimologija|enzimologiji]], ovaj enzim pripada porodici [[transferaza]], posebno onih prenosnih grupa [[aciltransferaza]] koje nisu [[aminoacil]] grupe. [[kataliza|Katalizira]] u [[hemijska reakcija|hemijsku reakciju]]:

:[[acetil-CoA]] + [[heparan sulfat α-D-glukozaminid]] <math>\rightleftharpoons</math> [[koenzim A|CoA]] + [[heparan sulfat N-acetil-α-D-glukozaminid]]

Ovaj [[enzim]] učestvuje u razgradnji [[glikozaminoglikan]]ske i [[glikan]]ske strukture. [[Mutacija]] u genu koji kodira ovaj enzim uzrokuje [[mukopolisaharidoza|mukopolisaharidozu]] IIIC.<ref name="pmid16960811"/>

==Reference==
{{reflist}}

==Dopunska literatura==
{{refbegi}}
*{{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 |doi-access=free }}
*{{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 |doi-access= free }}
*{{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   |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 |doi-access= free }}
*{{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   |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 |doi-access= free }}
*{{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 |s2cid=21940082 |doi-access=free }}
* {{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 | doi-access = free }}
* {{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}}

{{Katabolizam glikozaminoglikana}}
{{Aciltransferaze}}
{{Enzimi}}
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[[Kategorija:EC 2.3.1]]
[[Kategorija:Enzimi nepoznate strukture]]
[[Kategorija:Geni na hromosomu 8]]
[[Kategorija:Enzimi]]
[[Kategorija:Ljudski proteini]]
[[Kategorija:Proteomika]]