NAT16

Last update 23 Jan 2025

Basic Info

Synonyms

C7orf52, FLJ39237, N-acetyltransferase 16 (putative)

+ [2]

Introduction

Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown.

100 Clinical Results associated with NAT16

100 Translational Medicine associated with NAT16

0 Patents (Medical) associated with NAT16

Literatures (Medical) associated with NAT16

01 Nov 2024·Diabetologia

Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease

Article

Author: Groop, Per-Henrik ; Antikainen, Anni A ; Valo, Erkka ; Franceschini, Nora ; Syreeni, Anna ; Krolewski, Andrzej S ; Haukka, Jani K ; Lin, Bridget M ; Dahlström, Emma H ; Harjutsalo, Valma ; Sandholm, Niina

AbstractAims/hypothesisDiabetic kidney disease (DKD) is a severe diabetic complication that affects one third of individuals with type 1 diabetes. Although several genes and common variants have been shown to be associated with DKD, much of the predicted inheritance remains unexplained. Here, we performed next-generation sequencing to assess whether low-frequency variants, extending to a minor allele frequency (MAF) ≤10% (single or aggregated) contribute to the missing heritability in DKD.MethodsWe performed whole-exome sequencing (WES) of 498 individuals and whole-genome sequencing (WGS) of 599 individuals with type 1 diabetes. After quality control, next-generation sequencing data were available for a total of 1064 individuals, of whom 541 had developed either severe albuminuria or end-stage kidney disease, and 523 had retained normal albumin excretion despite a long duration of type 1 diabetes. Single-variant and gene-aggregate tests for protein-altering variants (PAV) and protein-truncating variants (PTV) were performed separately for WES and WGS data and combined in a meta-analysis. We also performed genome-wide aggregate analyses on genomic windows (sliding window), promoters and enhancers using the WGS dataset.ResultsIn the single-variant meta-analysis, no variant reached genome-wide significance, but a suggestively associated common THAP7 rs369250 variant (p=1.50 × 10−5, MAF=49%) was replicated in the FinnGen general population genome-wide association study (GWAS) data for chronic kidney disease and DKD phenotypes. The gene-aggregate meta-analysis provided suggestive evidence (p<4.0 × 10−4) at four genes for DKD, of which NAT16 (MAFPAV≤10%) and LTA (also known as TNFβ, MAFPAV≤5%) are replicated in the FinnGen general population GWAS data. The LTA rs2229092 C allele was associated with significantly lower TNFR1, TNFR2 and TNFR3 serum levels in a subset of FinnDiane participants. Of the intergenic regions suggestively associated with DKD, the enhancer on chromosome 18q12.3 (p=3.94 × 10−5, MAFvariants≤5%) showed interaction with the METTL4 gene; the lead variant was replicated, and predicted to alter binding of the MafB transcription factor.Conclusions/interpretationOur sequencing-based meta-analysis revealed multiple genes, variants and regulatory regions that were suggestively associated with DKD. However, as no variant or gene reached genome-wide significance, further studies are needed to validate the findings.Graphical Abstract

01 Jan 2022·Gastric CancerQ1 · MEDICINE

Glucose metabolic profiles evaluated by PET associated with molecular characteristic landscape of gastric cancer

Q1 · MEDICINE

Article

Author: Choi, Hongyoon ; Bae, Seong-Woo ; Berlth, Felix ; Kang, Keon Wook ; Park, Shin-Hoo ; Park, Do-Joong ; Kim, Jong-Il ; Suh, Yun-Suhk ; Choi, Jong-Ho ; Lee, Charles ; Kong, Seong-Ho ; Cheon, Gi Jeong ; Youn, Hyewon ; Lee, Hyuk-Joon ; Jeong, Kyoung-Yun ; Park, Ji-Hyeon ; Yang, Han-Kwang

BACKGROUNDAlthough FDG-PET is widely used in cancer, its role in gastric cancer (GC) is still controversial due to variable [¹⁸F]fluorodeoxyglucose ([¹⁸F]FDG) uptake. Here, we sought to develop a genetic signature to predict high FDG-avid GC to plan individualized PET and investigate the molecular landscape of GC and its association with glucose metabolic profiles noninvasively evaluated by [¹⁸F]FDG-PET.METHODSBased on a genetic signature, PETscore, representing [¹⁸F]FDG avidity, was developed by imaging data acquired from thirty patient-derived xenografts (PDX). The PETscore was validated by [¹⁸F]FDG-PET data and gene expression data of human GC. The PETscore was associated with genomic and transcriptomic profiles of GC using The Cancer Genome Atlas.RESULTSFive genes, PLS1, PYY, HBQ1, SLC6A5, and NAT16, were identified for the predictive model for [¹⁸F]FDG uptake of GC. The PETscore was validated in independent PET data of human GC with qRT-PCR and RNA-sequencing. By applying PETscore on TCGA, a significant association between glucose uptake and tumor mutational burden as well as genomic alterations were identified.CONCLUSIONOur findings suggest that molecular characteristics are underlying the diverse metabolic profiles of GC. Diverse glucose metabolic profiles may apply to precise diagnostic and therapeutic approaches for GC.

01 Jan 2014·Biochimica et Biophysica Acta (BBA) - General Subjects

An ectotherm homologue of human predicted gene NAT16 encodes histidine N-acetyltransferase responsible for Nα-acetylhistidine synthesis

Article

Author: Shiori Arikawa ; Shoji Yamada

BACKGROUNDNα-Acetylhistidine (NAH) is present in very high concentrations exclusively in the brain and lens of ectothermic vertebrates, including ray-finned fishes, amphibians and reptiles, and not in those of endothermic birds and mammals. Although NAH is known to be synthesized from l-His and acetyl-CoA by histidine N-acetyltransferase (HISAT; EC 2.3.1.33), the gene encoding HISAT has remained unknown for any organism.METHODSHISAT was purified from the blue mackerel brain, and its partial amino acid sequences were analyzed using mass spectrometry and Edman degradation. Using the sequence information, the corresponding gene was cloned and sequenced. Recombinant proteins encoded by the fish gene and its human homologue were expressed in a cell-free translation system.RESULTSHISAT was identified to be a protein encoded by a fish homologue of the human predicted gene NAT16 (N-acetyltransferase 16). HISAT is an unstable enzyme that is rapidly and irreversibly inactivated during preincubation at 37°C in the absence of acetyl-CoA. In fish brain, the HISAT gene is expressed as two splice variants containing an identical ORF but differing lengths of 5'-UTR. Both variants are expressed exclusively in the fish brain and lens. Interestingly, the recombinant human NAT16 protein, unlike the recombinant fish HISAT, has only trace enzyme activity for NAH synthesis.CONCLUSIONSThese results propose that the function of mammalian NAT16 has been altered from l-His acetylation (NAH synthesis) to another different biological role.GENERAL SIGNIFICANCEThe molecular identification of HISAT will allow progress in the understanding of the physiological function of NAH in ectothermic vertebrates.

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