NAT1

Chr 8

N-acetyltransferase 1

Also known as: AAC1, MNAT, NAT-1, NATI

This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOrthostatic intolerance
0
Active trials
29
Pubs (1 yr)
P/LP submissions
P/LP missense
1.89
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.000
Z-score -1.33
OE 1.40 (0.961.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.50Z-score
OE missense 1.11 (0.981.25)
196 obs / 177.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.40 (0.961.89)
00.351.4
Missense OE?1.11 (0.981.25)
00.61.4
Synonymous OE?1.18
01.21.6
LoF obs/exp: 18 / 12.9Missense obs/exp: 196 / 177.3Syn Z: -1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NAT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →