NAT8B

pseudo

N-acetyltransferase 8B (putative, gene/pseudogene)

Gene summary

This gene is highly similar to the N-acetyltransferase 8 (NAT8) gene which encodes 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 represents a human-specific transcribed pseudogene of NAT8. This gene contains two common polymorphic nonsense mutations that disrupt the active site of the protein. In the extremely rare event when both nonsense mutations are absent, the predicted protein would contain a complete acetyltransferase domain and would be identical in length to NAT8. [provided by RefSeq, Apr 2022]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:17B:6

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr2:73,700,576-73,701,340

External References & Databases

Ensembl (ENSG00000204872)

Transcript & Mutation Effects

hg38 • Region Span ~0.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NAT8B variants in ClinVar

1 Conditions Cataloged

Inborn genetic diseasesTotal: 23

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			17 clinvar	6 clinvar		23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	6	0	23

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000377712.3	Ensembl	ENSP00000485054.2	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glutathione metabolism - Homo sapiens (human)
Metabolism of proteins
Amyloid fiber formation

Biological Process

gastrulation with mouth forming second
positive regulation of gene expression
peptidyl-lysine N6-acetylation
negative regulation of apoptotic process
cellular protein metabolic process

Molecular Function

lysine N-acetyltransferase activity, acting on acetyl phosphate as donor
protein binding
N-acetyltransferase activity

Cellular Component

endoplasmic reticulum membrane
endoplasmic reticulum-Golgi intermediate compartment
integral component of membrane
endoplasmic reticulum-Golgi intermediate compartment membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241). {ECO:0000269|PubMed:19011241, ECO:0000269|PubMed:24556617}.;