ATAT1

Chr 6

alpha tubulin acetyltransferase 1

Also known as: C6orf134, MEC17, Nbla00487, alpha-TAT, alpha-TAT1

NCBI Gene: 79969ENSG00000137343UniProt: Q5SQI0

This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 2.34
OE 0.54 (0.36–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.38Z-score
OE missense 0.75 (0.66–0.85)
180 obs / 240.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.36–0.82)
0≤0.351.4
Missense OE?0.75 (0.66–0.85)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 16 / 29.8Missense obs/exp: 180 / 240.1Syn Z: 1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATAT1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients