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

Gene ID: 9027, updated on 5-Aug-2022

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
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Genomic context

See NAT8 in Genome Data Viewer
Location:
2p13.1
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73640723..73642422, complement)
110 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 ALMS1 pseudogene 1 Neighboring gene uncharacterized LOC112268418

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 

General protein information

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_003960.4NP_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
    Q9UHE5, Q9UQ17
    Related
    ENSP00000272425.3, ENST00000272425.4
    Conserved Domains (2) summary
    COG0456
    Location:101200
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
    pfam00583
    Location:113194
    Acetyltransf_1; Acetyltransferase (GNAT) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)