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

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: MIM:608190; AllianceGenome:HGNC:30235
Gene type: pseudo
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: 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]
Orthologs: all
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Genomic context

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 (73700509..73702125, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (73713618..73715234, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (73927636..73928467, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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
Genetic loci influencing kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Other Names

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acetyltransferase activity	NAS Non-traceable Author Statement 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 amyloid-beta metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gastrulation with mouth forming second	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
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	NAS Non-traceable Author Statement more info	PubMed

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.

RNA

NR_132338.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC092653

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

73700509..73702125 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_025791766.1 Reference GRCh38.p14 PATCHES

Range

370007..371623 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

73713618..73715234 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_016347.2: Suppressed sequence

Description

NM_016347.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.