NAT8

NAT8
Identifiers
Aliases	NAT8 , ATase2, CML1, GLA, Hcml1, TSC501, TSC510, CCNAT, N-acetyltransferase 8 (putative)
External IDs	OMIM: 606716; MGI: 1915646; HomoloGene: 9479; GeneCards: NAT8; OMA:NAT8 - orthologs
EC number	2.3.1.80
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p13.1 Start 73,640,723 bp [1] End 73,642,422 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 C3 Start 85,807,370 bp [2] End 85,809,064 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glomerulus metanephric glomerulus kidney tubule renal medulla right lobe of liver human kidney gonad testicle caput epididymis mucosa of ileum Top expressed in right kidney human kidney left lobe of liver proximal tubule duodenum jejunum epithelium of small intestine ileum intestinal villus yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity cysteine-S-conjugate N-acetyltransferase activity acyltransferase activity protein binding lysine N-acetyltransferase activity, acting on acetyl phosphate as donor Cellular component integral component of membrane endoplasmic reticulum-Golgi intermediate compartment membrane endoplasmic reticulum membrane membrane endoplasmic reticulum-Golgi intermediate compartment endoplasmic reticulum Biological process peptidyl-lysine N6-acetylation positive regulation of gene expression negative regulation of apoptotic process amyloid-beta metabolic process glutathione metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9027 68396 Ensembl ENSG00000144035 ENSMUSG00000030004 UniProt Q9UHE5 Q9JIY7 RefSeq (mRNA) NM_003960 NM_023455 NM_001362060 RefSeq (protein) NP_003951 NP_075944 NP_001348989 Location (UCSC) Chr 2: 73.64 – 73.64 Mb Chr 6: 85.81 – 85.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

N-acetyltransferase 8 is a protein that in humans is encoded by the NAT8 gene. ^[5]

Clinical relevance

Mutations in the NAT8 gene have been associated with chronic kidney disease. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000144035 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030004 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: N-acetyltransferase 8 (GCN5-related".
6. 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. Bibcode:2011Natur.477...54S. doi:10.1038/nature10354. PMC   3832838 . 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 . PMC   2629114 . 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. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID   15761153. S2CID   39457788.
• 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 . PMC   2881811 . 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. S2CID   206324237.
• 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 . PMC   2330028 . 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. PMC   2997674 . 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. PMC   3748585 . PMID   20383145.