HGSNAT
Heparan-
| Heparan-alfa-glukozaminid N-acetiltransferaza | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | HGSNAT; HGNAT; MPS3C; TMEM76 | ||||||||||
| Vanjski ID | OMIM: 610453 HomoloGene: 15586 GeneCards: HGSNAT Gene | ||||||||||
| EC broj | 2.3.1.78 | ||||||||||
| |||||||||||
| Pregled RNK izražavanja | |||||||||||
 | |||||||||||
| 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 | ||||||||
| Baze podataka | |||||||||
| IntEnz | IntEnz pregled | ||||||||
| BRENDA | BRENDA pristup | ||||||||
| ExPASy | NiceZyme pregled | ||||||||
| KEGG | KEGG pristup | ||||||||
| MetaCyc | metabolički put | ||||||||
| PRIAM | profil | ||||||||
| Strukture PBP | RCSB PDB PDBe PDBj PDBsum | ||||||||
| Ontologija gena | AmiGO / EGO | ||||||||
| |||||||||
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]
Reference
уреди- ^ 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 (2006). „Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)”. Am J Hum Genet. 79 (5): 807—19. PMC 1698556
. PMID 17033958. doi:10.1086/508294.
- ^ а б Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ (2006). „Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)”. Am J Hum Genet. 79 (4): 738—44. PMC 1592569 . PMID 16960811. doi:10.1086/508068.
- ^ „Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase”.
Literatura
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- 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. PMID 14702039. doi:10.1038/ng1285.
- 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. PMC 1735628 . PMID 15591281. doi:10.1136/jmg.2004.021501.
- 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. PMID 16303743. doi:10.1093/dnares/12.2.117.
- 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. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
- Nusbaum C; Mikkelsen TS; Zody MC; et al. (2006). „DNA sequence and analysis of human chromosome 8.”. Nature. 439 (7074): 331—5. PMID 16421571. doi:10.1038/nature04406.
- 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. PMID 17397050. doi:10.1002/humu.9488.
- 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. PMC 336290 . PMID 33384. doi:10.1073/pnas.75.10.5185.
- 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. PMID 7346380. doi:10.1515/bchm2.1981.362.2.1199.
- Nicholas C. Price; Lewis Stevens (1999). Fundamentals of Enzymology: The Cell and Molecular Biology of Catalytic Proteins (Third изд.). USA: Oxford University Press. ISBN 019850229X.
- Eric J. Toone (2006). Advances in Enzymology and Related Areas of Molecular Biology, Protein Evolution (Volume 75 изд.). Wiley-Interscience. ISBN 0471205036.
- Branden C; Tooze J. Introduction to Protein Structure. New York, NY: Garland Publishing. ISBN 0-8153-2305-0.
- Irwin H. Segel. Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State Enzyme Systems (Book 44 изд.). Wiley Classics Library. ISBN 0471303097.