MAPKAP1
Chr 9MAPK associated protein 1
Also known as: JC310, MIP1, SIN1, SIN1b, SIN1g
The protein functions as a component of the mechanistic target of rapamycin complex 2 (mTORC2), serving as a substrate adapter that recognizes and binds AGC protein kinase family members for phosphorylation by mTOR, thereby transducing growth factor signals to pathways controlling proliferation, cytoskeletal organization, and metabolism. Loss-of-function mutations in MAPKAP1 are predicted to cause disease through haploinsufficiency, as indicated by the extremely high pLI score (0.9999) and low LOEUF score (0.153), though specific neurogenetic disorders associated with this gene have not yet been characterized. The inheritance pattern and clinical phenotype remain to be defined as this represents an emerging disease gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
99 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 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 37 | 3 | 0 | 40 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 1 | 3 | 4 |
| Total | 0 | 37 | 32 | 4 | 73 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MAPKAP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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