NAA11

protein-coding

N-alpha-acetyltransferase 11, NatA catalytic subunit, the group of GCN5 related N-acetyltransferases|N-alpha-acetyltransferase subunits

Gene summary

Enables protein-N-terminal amino-acid acetyltransferase activity. Involved in N-terminal protein amino acid acetylation. Located in cytosol and nucleoplasm. Part of NatA complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

ARD1B

MANE transcript

NM_032693.3

Inheritance

—

ClinVar variants

U:32

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.54

Max pathogenic AF

—

Genomic locus

chr4:79,225,694-79,326,061

External References & Databases

Ensembl (ENSG00000156269)

Transcript & Mutation Effects

hg38 • Region Span ~100.4 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 NAA11 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 32

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032693.3. 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			32 clinvar			32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	0	0	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032693.3	RefSeq	NP_116082.1	1	MANE Select
ENST00000286794.5	Ensembl	ENSP00000286794.4	1	MANE Select
ENST00000511542.1	Ensembl	ENSP00000422022.1	1	Standard
XM_017008777.2	RefSeq	XP_016864266.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

N-terminal protein amino acid acetylation
N-terminal peptidyl-serine acetylation
N-terminal peptidyl-glutamic acid acetylation

Molecular Function

peptide alpha-N-acetyltransferase activity
protein binding
peptide-serine-N-acetyltransferase activity
peptide-glutamate-N-acetyltransferase activity

Cellular Component

nucleus
NatA complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000286794
Coding exons: 1
Length: 100357
Individuals with no LoFs: 125406
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125423
p: 0.0000678

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.236	135	143	0.944	0.00000854	1527
Missense (PolyPhen)		32	38.287	0.83579		397
Synonymous	0.353	56	59.5	0.942	0.00000399	430
Loss of Function	1.17	4	7.44	0.537	4.12e-7	89

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. {ECO:0000269|PubMed:16638120}.;

Recessive Scores

pRec: 0.0916

Intolerance Scores

LoFtool: 0.530
RVIS EVS: 0.01
RVIS percentile EVS: 54.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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