NAT8

N-acetyltransferase 8 (GCN5-related, putative)
Identifiers
Symbols	NAT8; CML1; TSC510; Hcml1; GLA; TSC501
External IDs	OMIM: 606716 MGI: 1915646 HomoloGene: 9479 GeneCards: NAT8 Gene
EC number	2.3.1.-
Gene Ontology Molecular function • acyltransferase activity • transferase activity • N-acetyltransferase activity Cellular component • membrane • integral to membrane Biological process • response to drug • metabolic process • gastrulation with mouth forming second • multicellular organismal development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9027	68396
Ensembl	ENSG00000144035	ENSMUSG00000030004
UniProt	Q9UHE5	Q9JIY7
RefSeq (mRNA)	NM_003960	NM_023455
RefSeq (protein)	NP_003951	NP_075944
Location (UCSC)	Chr 2: 73.72 – 73.72 Mb	Chr 6: 85.78 – 85.78 Mb
PubMed search	[1]	[2]

N-acetyltransferase 8 is a protein that in humans is encoded by the NAT8 gene.^[1]

Clinical relevance

Mutations in the NAT8 gene have been associated with chronic kidney disease.^[2]

References

1. ^ "Entrez Gene: N-acetyltransferase 8 (GCN5-related". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9027. 
2. ^ Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, Wägele B, Altmaier E, Deloukas P, Erdmann J, Grundberg E, Hammond CJ, de Angelis MH, Kastenmüller G, Köttgen A, Kronenberg F, Mangino M, Meisinger C, Meitinger T, Mewes HW, Milburn MV, Prehn C, Raffler J, Ried JS, Römisch-Margl W, Samani NJ, Small KS, Wichmann HE, Zhai G, Illig T, Spector TD, Adamski J, Soranzo N, Gieger C (September 2011). "Human metabolic individuality in biomedical and pharmaceutical research". Nature 477 (7362): 54–60. doi:10.1038/nature10354. PMID 21886157. 

Further reading

• Ko MH, Puglielli L (2009). "Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels.". J. Biol. Chem. 284 (4): 2482–92. doi:10.1074/jbc.M804901200. PMID 19011241. 
• Ozaki K, Fujiwara T, Nakamura Y, Takahashi E (1998). "Isolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferases.". J. Hum. Genet. 43 (4): 255–8. doi:10.1007/s100380050084. PMID 9852678. 
• Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells.". Science 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153. 
• Veiga-da-Cunha M, Tyteca D, Stroobant V, et al. (2010). "Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids.". J. Biol. Chem. 285 (24): 18888–98. doi:10.1074/jbc.M110.110924. PMID 20392701. 
• Ariyannur PS, Moffett JR, Manickam P, et al. (2010). "Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: implications for specialized acetyl coenzyme A metabolism in the CNS.". Brain Res. 1335: 1–13. doi:10.1016/j.brainres.2010.04.008. PMID 20385109. 
• Popsueva AE, Luchinskaya NN, Ludwig AV, et al. (2001). "Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis.". Dev. Biol. 234 (2): 483–96. doi:10.1006/dbio.2001.0261. PMID 11397015. 
• Juhanson P, Kepp K, Org E, et al. (2008). "N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.". BMC Med. Genet. 9: 25. doi:10.1186/1471-2350-9-25. PMID 18402670. 
• Veréb J, Démant F, Pavkovceková O, Tischler V (1975). "[Agenesis and aplasia of the kidney in children in the x-ray diagnostic picture].". Cesk Pediatr 30 (3): 94–7. PMID 1139715. 
• Köttgen A, Pattaro C, Böger CA, et al. (2010). "New loci associated with kidney function and chronic kidney disease.". Nat. Genet. 42 (5): 376–84. doi:10.1038/ng.568. PMID 20383146. 
• Chambers JC, Zhang W, Lord GM, et al. (2010). "Genetic loci influencing kidney function and chronic kidney disease.". Nat. Genet. 42 (5): 373–5. doi:10.1038/ng.566. PMID 20383145.