CRTC1
Chr 19CREB regulated transcription coactivator 1
Also known as: MAML2, MECT1, Mam-2, TORC-1, TORC1, WAMTP1
The protein functions as a transcriptional coactivator for CREB1, activating transcription through cAMP response elements and regulating CREB-activated genes involved in metabolism, circadian rhythms, and synaptic plasticity. Mutations cause mucoepidermoid salivary gland carcinoma through a loss-of-function mechanism, though the inheritance pattern is not specified in the available data. The protein is intolerant to loss-of-function variants (LOEUF 0.418), suggesting haploinsufficiency may be pathogenic.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 73 | 1 | 0 | 74 |
Likely Benign | 0 | 2 | 0 | 4 | 6 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 75 | 9 | 5 | 89 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRTC1 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools