HGSNAT

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Heparan-alfa-glukozaminid N-acetiltransferaza
Identifikatori
Simboli HGSNAT; HGNAT; MPS3C; TMEM76
Vanjski ID OMIM610453 HomoloGene15586 GeneCards: HGSNAT Gene
EC broj 2.3.1.78
Pregled RNK izražavanja
PBB GE HGSNAT 218017 s at tn.png
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 structures
Ontologija gena AmiGO / EGO

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 \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[uredi - уреди]

  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. 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. PMID 16960811. 
  3. "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=138050. 

Literatura[uredi - уреди]

  • 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. 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. 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. 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. 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.