NAT8 N-acetyltransferase 8 (putative) [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAT8provided by HGNC
Official Full Name: N-acetyltransferase 8 (putative)provided by HGNC
Primary source: HGNC:HGNC:18069
See related: Ensembl:ENSG00000144035 MIM:606716; AllianceGenome:HGNC:18069
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GLA; CML1; CCNAT; Hcml1; ATase2; TSC501; TSC510
Summary: This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]
Expression: Restricted expression toward kidney (RPKM 344.5) See more
Orthologs: all
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Genomic context

Location:: 2p13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (73640723..73642422, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (73653777..73655476, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (73867850..73869549, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

N-Acetyltransferase 8 Promotes Viral Replication by Increasing the Stability of Enterovirus 71 Nonstructural Proteins.
Title: N-Acetyltransferase 8 Promotes Viral Replication by Increasing the Stability of Enterovirus 71 Nonstructural Proteins.
NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD.
Title: NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD.
Findings indicate that the NAA pathway has a prominent role in promoting tumor growth and represents a valuable target for anticancer therapy.
Title: Role of Increased n-acetylaspartate Levels in Cancer.
ATase1 and ATase2 are endoplasmic reticulum-based acetyltransferases that form homo- and heterodimers and associate with members of the oligosaccharyltransferase complex
Title: The endoplasmic reticulum-based acetyltransferases, ATase1 and ATase2, associate with the oligosaccharyltransferase to acetylate correctly folded polypeptides.
Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces beta-secretase (BACE1) levels and Abeta generation.
Title: Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces β-secretase (BACE1) levels and Aβ generation.
NAT8L is the NAA biosynthetic enzyme Asp-N-acetyltransferase and is highly specific for the acetylation of aspartate.
Title: Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: implications for specialized acetyl coenzyme A metabolism in the CNS.
NAT8 is the enzyme that acetylates cysteine S-conjugates to mercapturic acids
Title: Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic loci influencing kidney function and chronic kidney disease.
we raise the hypothesis that the alternative SNP alleles of the NAT8 upstream region may have differential effect on gene expression
Title: N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.
Observational study of gene-disease association. (HuGE Navigator)
Title: N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants influencing human serum metabolome among African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci influencing kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NAT8_959 (e-PCR)
- UniSTS:277523

NAT8_V229 (e-PCR)
- UniSTS:277523

RH101973 (e-PCR)
- UniSTS:96307

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-S-conjugate N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IDA Inferred from Direct Assay more info	PubMed
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid fibril formation	TAS Traceable Author Statement more info
involved_in glutathione metabolic process	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-lysine N6-acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-acetyltransferase 8

Names: N-acetyltransferase 8 (GCN5-related, putative); N-acetyltransferase 8 (camello like); acetyltransferase 2; camello-like protein 1; cysteinyl-conjugate N-acetyltransferase; kidney- and liver-specific gene product; probable N-acetyltransferase 8

NP_003951.3

EC 2.3.1.80

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003960.4 → NP_003951.3 N-acetyltransferase 8

See identical proteins and their annotated locations for NP_003951.3

Status: REVIEWED

Source sequence(s)

AC092653, BG426653

Consensus CDS

CCDS1926.1

UniProtKB/Swiss-Prot

O75839, Q6LEU4, Q96QI8, Q9UHE5, Q9UQ17

Related

ENSP00000272425.3, ENST00000272425.4

Conserved Domains (2) summary

COG0456
Location:101 → 200

RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]

pfam00583
Location:113 → 194

Acetyltransf_1; Acetyltransferase (GNAT) family