HGSNAT

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Heparan-alfa-glukozaminid N-acetiltransferaza
Identifikatori
SimboliHGSNAT; HGNAT; MPS3C; TMEM76
Vanjski IDOMIM: 610453 HomoloGene: 15586 GeneCards: HGSNAT Gene
EC broj2.3.1.78
Ontologija gena
Molekularna funkcija • aktivnost heparan-alfa-glukozaminid N-acetiltransferaze
• aktivnost transferaze
Celularna komponenta • lizozomna membrana
• integralno a membranom
Biološki proces • proces ugljovodoničnog metabolizma
• proces glikozaminoglikanskog katabolizma
• lizozomalni transport
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez13805052120
EnsemblENSG00000165102ENSMUSG00000037260
UniProtQ68CP4Q3UDW8
RefSeq (mRNA)NM_152419NM_029884
RefSeq (protein)NP_689632NP_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
Pretraga
PMC articles
PubMed articles
NCBI Protein search

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 ⇌ {\displaystyle \rightleftharpoons } 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]

Reference

  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”. 

Literatura

  • 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. 
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2.3.1: osim amino-acilne grupe2.3.2: Aminoaciltransferaze2.3.3: konverzija u alkil pri transferu
B enzm: 1.1/2/3/4/5/6/7/8/10/11/13/14/15-18, 2.1/2/3/4/5/6/7/8, 2.7.10, 2.7.11-12, 3.1/2/3/4/5/6/7, 3.1.3.48, 3.4.21/22/23/24, 4.1/2/3/4/5/6, 5.1/2/3/4/99, 6.1-3/4/5-6