HGSNAT
| edit |
| Heparan-alfa-glukozaminid N-acetiltransferaza | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | HGSNAT; HGNAT; MPS3C; TMEM76 | ||||||||||
| Vanjski ID | OMIM: 610453 HomoloGene: 15586 GeneCards: HGSNAT Gene | ||||||||||
| EC broj | 2.3.1.78 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 138050 | 52120 | |||||||||
| Ensembl | ENSG00000165102 | ENSMUSG00000037260 | |||||||||
| UniProt | Q68CP4 | Q3UDW8 | |||||||||
| RefSeq (mRNA) | NM_152419 | NM_029884 | |||||||||
| RefSeq (protein) | NP_689632 | NP_084160 | |||||||||
| Lokacija (UCSC) | Chr 8: 43 - 43.06 Mb | Chr 8: 25.94 - 25.98 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
| Heparan-alfa-glukozaminid N-acetiltransferaza | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||
| EC broj | 2.3.1.78 | ||||||||
| CAS broj | 79955-83-2 | ||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB | RCSB PDB PDBe PDBj PDBsum | ||||||||
| Ontologija gena | AmiGO / EGO | ||||||||
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Heparan-α-glukozaminid N-acetiltransferaza (acetil-KoA:heparan-α-D-glukozaminid N-acetiltransferaza, acetil-KoA:alfa-glukozaminid N-acetiltransferaza) je enzim koji je kod čoveka kodiran HGSNAT genom.[1][2][3]
U enzimologiji, ovaj enzim propada familiji transferaza, specifično onih koje ne vrše transfer aminoacil grupa. On posreduje hemijsku reakciju:
- acetil-KoA heparan sulfat α-D-glukozaminid KoA heparan sulfat N-acetul-α-D-glukozaminid
Ovaj enzim učestvuje u degradaciji glikozaminoglikana i glikana. Mutacije gena koji kodira ovaj enzim izazivaju mukopolisaharidozu IIIC.[2]
- ↑ 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.
- ↑ 2,0 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.
- ↑ „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. 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.
- 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. Seylers. Z. Physiol. Chem. 362 (9): 1199-207. DOI:10.1515/bchm2.1981.362.2.1199. PMID 7346380.