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

Gene ID: 9027, updated on 7-Apr-2024

Summary

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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

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Location:
2p13.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73640723..73642422, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73653777..73655476, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73867850..73869549, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ALMS1 centrosome and basal body associated protein Neighboring gene G protein subunit gamma 5 pseudogene 4 Neighboring gene ALMS1 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73713947-73714466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:73737287-73738109 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 Neighboring gene ALMS1 pseudogene 1 Neighboring gene uncharacterized LOC112268418

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. N-Acetyltransferase 8 Promotes Viral Replication by Increasing the Stability of Enterovirus 71 Nonstructural Proteins. Zhao X, et al. J Virol, 2022 Mar 23. PMID 35170979, Free PMC Article
  2. NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD. Luo S, et al. Clin J Am Soc Nephrol, 2020 Dec 31. PMID 33380473, Free PMC Article
  3. Role of Increased n-acetylaspartate Levels in Cancer. Zand B, et al. J Natl Cancer Inst, 2016 Jan 26. PMID 26819345, Free PMC Article
  4. N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study. Juhanson P, et al. BMC Med Genet, 2008 Apr 10. PMID 18402670, Free PMC Article
  5. Isolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferases. Ozaki K, et al. J Hum Genet, 1998. PMID 9852678

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD.
    Title: NAT8 Variants, N-Acetylated Amino Acids, and Progression of CKD.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genetic loci influencing kidney function and chronic kidney disease.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic determinants influencing human serum metabolome among African Americans.
EBI GWAS Catalog
Genetic loci influencing kidney function and chronic kidney disease.
EBI GWAS Catalog
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
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog
Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    73640723..73642422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791766.1 Reference GRCh38.p14 PATCHES

    Range
    310221..311920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73653777..73655476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHE5.2 GenPept UniProtKB/Swiss-Prot:Q9UHE5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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