NAT8

N-acetyltransferase 8 (putative), the group of GCN5 related N-acetyltransferases

Basic information

Region (hg38): 2:73640723-73642422

Links

ENSG00000144035 ∙ NCBI:9027 ∙ OMIM:606716 ∙ HGNC:18069 ∙ Uniprot:Q9UHE5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NAT8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAT8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	5	2	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	5	2

Variants in NAT8

This is a list of pathogenic ClinVar variants found in the NAT8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-73641044-C-G		not specified	Uncertain significance (Feb 16, 2023)
2-73641048-T-G		not specified	Uncertain significance (Oct 27, 2022)
2-73641058-T-A		not specified	Likely benign (Mar 29, 2022)
2-73641097-C-T		not specified	Likely benign (Jan 17, 2024)
2-73641099-G-A		not specified	Uncertain significance (Oct 03, 2022)
2-73641102-T-C		not specified	Uncertain significance (Jan 26, 2022)
2-73641132-C-G		not specified	Uncertain significance (May 23, 2024)
2-73641133-G-A		not specified	Uncertain significance (Dec 19, 2023)
2-73641166-T-C		not specified	Uncertain significance (Aug 05, 2023)
2-73641181-G-C		not specified	Likely benign (Jun 24, 2022)
2-73641184-G-A		not specified	Uncertain significance (Dec 13, 2021)
2-73641222-C-T		not specified	Likely benign (May 09, 2023)
2-73641261-C-A		not specified	Uncertain significance (Apr 15, 2024)
2-73641265-C-T		not specified	Uncertain significance (Oct 12, 2022)
2-73641267-A-G			Benign (Jul 04, 2018)
2-73641268-T-C		not specified	Uncertain significance (Jul 14, 2022)
2-73641294-G-T		not specified	Uncertain significance (Jan 19, 2022)
2-73641316-G-A		not specified	Uncertain significance (Sep 22, 2022)
2-73641318-T-G		not specified	Uncertain significance (Apr 08, 2024)
2-73641325-G-T		not specified	Uncertain significance (Nov 07, 2023)
2-73641347-C-T		not specified	Uncertain significance (Mar 29, 2022)
2-73641381-G-A		not specified	Likely benign (Apr 22, 2024)
2-73641396-G-T		not specified	Uncertain significance (Nov 21, 2022)
2-73641545-A-T			Benign (Mar 30, 2018)
2-73641561-C-T		not specified	Likely benign (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NAT8	protein_coding	protein_coding	ENST00000272425	1	1562

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.57	186	135	1.38	0.00000799	1465
Missense in Polyphen		33	24.051	1.3721		310
Synonymous	-1.69	70	54.2	1.29	0.00000292	483
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acetylates the free alpha-amino group of cysteine S- conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S- conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, 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:20392701, ECO:0000269|PubMed:24556617}.
• Pathway: Glutathione metabolism - Homo sapiens (human);Metapathway biotransformation Phase I and II;Metabolism of proteins;Amyloid fiber formation (Consensus)

Recessive Scores

• pRec: 0.742

Intolerance Scores

• loftool: 0.633
• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.74

Haploinsufficiency Scores

• pHI: 0.279
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.206

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Nat8

Gene ontology

• Biological process: glutathione metabolic process;positive regulation of gene expression;peptidyl-lysine N6-acetylation;response to drug;negative regulation of apoptotic process;cellular protein metabolic process;amyloid-beta metabolic process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;endoplasmic reticulum-Golgi intermediate compartment;integral component of membrane;endoplasmic reticulum-Golgi intermediate compartment membrane
• Molecular function: lysine N-acetyltransferase activity, acting on acetyl phosphate as donor;protein binding;cysteine-S-conjugate N-acetyltransferase activity