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

    Gene ID: 9027, updated on 2-Nov-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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    See NAT8 in Genome Data Viewer
    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_000002.12Genomic 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 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. [Agenesis and aplasia of the kidney in children in the x-ray diagnostic picture]. Veréb J, et al. Cesk Pediatr, 1975 Mar. PMID 1139715
    2. 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
    3. 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
    4. 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
    5. 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

    See all (30) 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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    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_2024_08

    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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