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NAT8B N-acetyltransferase 8B (putative, gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 51471, updated on 23-Nov-2021

Summary

Official Symbol
NAT8Bprovided by HGNC
Official Full Name
N-acetyltransferase 8B (putative, gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:30235
See related
Ensembl:ENSG00000204872 MIM:608190
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CML2; Hcml2; NAT8BP
Summary
The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]
Annotation information
Note: This gene is named as a pseudogene because some transcripts contain two stop codons, the latter one destroying the active site of the enzyme (PubMed 16395595). Because some variants exist without the stop codons, the NCBI RefSeq Project treats this as a protein-coding gene. [13 Feb 2013]
Orthologs
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Genomic context

See NAT8B in Genome Data Viewer
Location:
2p13.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (73700509..73701340, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73927636..73928467, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ALMS1 pseudogene 1 Neighboring gene uncharacterized LOC112268418 Neighboring gene Sharpr-MPRA regulatory region 15607 Neighboring gene TP53RK binding protein

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic loci influencing kidney function and chronic kidney disease.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC97061

Gene Ontology Provided by GOA

General protein information

Preferred Names
putative N-acetyltransferase 8B
Names
ATase1
N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)
N-acetyltransferase Camello 2
acetyltransferase 1
camello-like protein 2
probable N-acetyltransferase 8B

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_016347.2NP_057431.2  putative N-acetyltransferase 8B

    See identical proteins and their annotated locations for NP_057431.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the protein coding allele.
    Source sequence(s)
    AF185571, BC069564, BX105650
    UniProtKB/Swiss-Prot
    Q9UHF3
    Conserved Domains (2) summary
    COG0456
    Location:101202
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
    pfam00583
    Location:113194
    Acetyltransf_1; Acetyltransferase (GNAT) family

RNA

  1. NR_132338.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1, non-coding) represents the non-protein coding allele.
    Source sequence(s)
    AC092653
    Related
    ENST00000377712.3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    73700509..73701340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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