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Tbio Putative N-acetyltransferase 8B

May have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241).

The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 9
PubMed Score 0.00
PubTator Score 17.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (1)

Disease Target Count P-value
osteosarcoma 7933 5.4e-04
diabetes mellitus 1663 1.1e-03
active ulcerative colitis 477 5.8e-03
active Crohn's disease 918 3.1e-02
nephrosclerosis 329 4.9e-02

Expression

  Differential Expression (5)

Disease log2 FC p
nephrosclerosis -1.281 4.9e-02
osteosarcoma -1.156 5.4e-04
active Crohn's disease -1.320 3.1e-02
active ulcerative colitis -1.851 5.8e-03
diabetes mellitus 1.100 1.1e-03

Synonym

Accession Q9UHF3 Q0VAD9 Q6NT18
Symbols CML2
Hcml2
NAT8BP

Gene

NAT8B

  Ortholog (1)

Species Source Disease
Xenopus OMA Inparanoid

 UniProt Keyword (9)

 GO Function (2)

 GO Component (4)

 GO Process (6)

 Compartment GO Term (0)

Pathway (3)

Protein-protein Interaction (17)

ATP12A   VPS13A   NAT8   ABCC4   SERPINE2   RABAC1   GHITM   APOB   DPY19L4   SLC7A2   CD82   RTN2   UQCRB   LMBR1   PCNX3   UQCRQ   DERL2  

Gene RIF (2)

PMID Text
25301944 ATase1 and ATase2 are endoplasmic reticulum-based acetyltransferases that form homo- and heterodimers and associate with members of the oligosaccharyltransferase complex
22267734 Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces beta-secretase (BACE1) levels and Abeta generation.

AA Sequence 

MAPYHIRKYQESDRKSVVGLLSGGMAEHAPATFRRLLKLPRTLILLLGGALALLLVSGSWILALVFSLSL      1 - 70
LPALWFLAKKPWTRYVDIALRTDMSDITKSYLSECGSCFWVAESEEKVVGTVGALPVDDPTLREKRLQLF     71 - 140
HLSVDNEHRGQGIAKALVRTVLQFARDQGYSEVVLDTSNIQLSAMGLYQSLGFKKTGQSFFHVWARLVDL    141 - 210
HTVHFIYHLPSAQAGRL                                                         211 - 227
//

Text Mined References (9)

PMID Year Title
25301944 2014 The endoplasmic reticulum-based acetyltransferases, ATase1 and ATase2, associate with the oligosaccharyltransferase to acetylate correctly folded polypeptides.
24556617 2014 Post-translational regulation of CD133 by ATase1/ATase2-mediated lysine acetylation.
22267734 2012 Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces ?-secretase (BACE1) levels and A? generation.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
20383145 2010 Genetic loci influencing kidney function and chronic kidney disease.
19011241 2009 Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels.
16395595 2006 Human-specific nonsense mutations identified by genome sequence comparisons.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11397015 2001 Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis.