NAT8

Protein-coding gene in the species Homo sapiens
NAT8
Identifiers
AliasesNAT8, ATase2, CML1, GLA, Hcml1, TSC501, TSC510, CCNAT, N-acetyltransferase 8 (putative)
External IDsOMIM: 606716; MGI: 1915646; HomoloGene: 9479; GeneCards: NAT8; OMA:NAT8 - orthologs
EC number2.3.1.80
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for NAT8
Genomic location for NAT8
Band2p13.1Start73,640,723 bp[1]
End73,642,422 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for NAT8
Genomic location for NAT8
Band6|6 C3Start85,807,370 bp[2]
End85,809,064 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 85.81 – 85.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000144035 – Ensembl, May 2017
  2. ^ a b c 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.
  • v
  • t
  • e
2.3.1: other than amino-acyl groups2.3.2: Aminoacyltransferases2.3.3: converted into alkyl on transfer
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