NAT8

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

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

Clinical relevance

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