HGSNAT

Heparan-alfa-glukozaminid N-acetiltransferaza
Heparan-alfa-glukozaminid N-acetiltransferaza
Identifikatori
Simbol	?
CAS broj	79955-83-2

HGSNAT
Identifikatori
Aliasi	HGSNAT
Vanjski ID-jevi	OMIM: 610453 MGI: 1196297 HomoloGene: 15586 GeneCards: HGSNAT
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	43,202,855 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	26,466,781 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • acyltransferase activity; • heparan-alpha-glucosaminide N-acetyltransferase activity;
Ćelijska komponenta	• integral component of membrane; • lysosomal membrane; • Lizozom; • membrana; • ćelijska membrana; • specific granule membrane; • tertiary granule membrane;
Biološki proces	• lysosomal transport; • glycosaminoglycan catabolic process; • protein complex oligomerization; • neutrophil degranulation;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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 kodiran genom HGSNAT.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 663 aminokiseline, а molekulska težina 73.293 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MTGARASAAE	QRRAGRSGQA	RAAERAAGMS	GAGRALAALL	LAASVLSAAL
LAPGGSSGRD	AQAAPPRDLD	KKRHAELKMD	QALLLIHNEL	LWTNLTVYWK
SECCYHCLFQ	VLVNVPQSPK	AGKPSAAAAS	VSTQHGSILQ	LNDTLEEKEV
CRLEYRFGEF	GNYSLLVKNI	HNGVSEIACD	LAVNEDPVDS	NLPVSIAFLI
GLAVIIVISF	LRLLLSLDDF	NNWISKAISS	RETDRLINSE	LGSPSRTDPL
DGDVQPATWR	LSALPPRLRS	VDTFRGIALI	LMVFVNYGGG	KYWYFKHASW
NGLTVADLVF	PWFVFIMGSS	IFLSMTSILQ	RGCSKFRLLG	KIAWRSFLLI
CIGIIIVNPN	YCLGPLSWDK	VRIPGVLQRL	GVTYFVVAVL	ELLFAKPVPE
HCASERSCLS	LRDITSSWPQ	WLLILVLEGL	WLGLTFLLPV	PGCPTGYLGP
GGIGDFGKYP	NCTGGAAGYI	DRLLLGDDHL	YQHPSSAVLY	HTEVAYDPEG
ILGTINSIVM	AFLGVQAGKI	LLYYKARTKD	ILIRFTAWCC	ILGLISVALT
KVSENEGFIP	VNKNLWSLSY	VTTLSSFAFF	ILLVLYPVVD	VKGLWTGTPF
FYPGMNSILV	YVGHEVFENY	FPFQWKLKDN	QSHKEHLTQN	IVATALWVLI
AYILYRKKIF	WKI

Funkcija

U enzimologiji, ovaj enzim pripada porodici transferaza, posebno onih prenosnih grupa aciltransferaza koje nisu aminoacil grupe. Katalizira u hemijsku reakciju:

acetil-CoA + heparan sulfat α-D-glukozaminid

\rightleftharpoons

CoA + heparan sulfat N-acetil-α-D-glukozaminid

Ovaj enzim učestvuje u razgradnji glikozaminoglikanske i glikanske strukture. Mutacija u genu koji kodira ovaj enzim uzrokuje mukopolisaharidozu IIIC.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165102 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037260 - Ensembl, maj 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.
^ ^a ^b 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".
^ "UniProt, Q68CP4" (jezik: engleski). Pristupljeno 19. 9. 2021.

Dopunska literatura

Šablon:Refbegi

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. 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. 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. 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.

Portal Biologija

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165102 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037260 - Ensembl, maj 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] 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".

[UniProt-8] "UniProt, Q68CP4" (jezik: engleski). Pristupljeno 19. 9. 2021.

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