ATE1

Chr 10

arginyltransferase 1

NCBI Gene: 11101 ENSG00000107669 UniProt: O95260 OMIM: 607103

This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ARDisputedevidence questions this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

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P/LP submissions

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P/LP missense

0.48

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance

LoF Constraint?

0.48LOEUF

pLI 0.041

Z-score 3.85

OE 0.27 (0.17–0.48)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.63Z-score

OE missense 0.89 (0.80–0.99)

244 obs / 273.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.27 (0.17–0.48)

0≤0.351.4

Missense OE?0.89 (0.80–0.99)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 9 / 32.8Missense obs/exp: 244 / 273.5Syn Z: -0.99

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

ATE1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients

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

Genomic variants and phenotypes in rare disease patients