MAPKAP1
MAPK Associated Protein 1
Gene Information Card
| Symbol | MAPKAP1 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 79109 ncbi.nlm.nih.gov/gene/79109 |
| Ensembl ID | ENSG00000136807 |
| UniProt ID | Q9BPZ7 |
| OMIM ID | 610558 |
| HGNC ID | 29694 |
| Aliases | SIN1, SIN1b, SIN1g, MGC2745 |
Description
MAPKAP1 (Mitogen-Activated Protein Kinase Associated Protein 1) encodes a protein that is a key component of the mTORC2 complex, which regulates cell growth, proliferation, and survival by phosphorylating AKT, SGK1, and PKC. It is involved in the PI3K/mTOR signaling pathway and has been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | mTORC2 hyperactivation via MAPKAP1 overexpression or mutation promotes AKT signaling and tumor growth | COSMIC, ClinVar |
| Prostate cancer | MAPKAP1 amplification leads to increased mTORC2 activity and androgen receptor signaling | COSMIC, NCBI |
| Breast cancer | MAPKAP1 overexpression correlates with poor prognosis and resistance to therapy | COSMIC, NCBI |
| Diabetes | MAPKAP1 variants may affect insulin signaling through mTORC2/AKT pathway | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 7.8 | Medium expression |
| MCF7 | 6.5 | Medium expression |
| A549 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown functional effect |
| c.1246G>A (p.Glu416Lys) | Missense | <0.1% | Unknown functional effect |
| Amplification | Copy number gain | ~2% in cancers | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
Amplification of MAPKAP1 is associated with increased mTORC2 activity and oncogenic signaling.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • mTORC2 complex |
| • signal transduction | • regulation of cell growth |
| • phosphatidylinositol 3-kinase signaling |
Pathways
• mTOR signaling pathway
• PI3K-Akt signaling pathway
• Insulin signaling pathway
Protein Summary
MAPKAP1 (SIN1) is a 522-amino acid protein that serves as an essential scaffold for the mTORC2 complex. It contains a PH domain that mediates membrane localization and a SIN1 domain that interacts with mTOR and RICTOR. The protein is critical for AKT phosphorylation at Ser473 and subsequent activation of downstream effectors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAPKAP1 Knockout HEK293 Cell Line | EDJ-KQ1192 | Human | 79109 | Details Get a Quote |
| MAPKAP1 Knockout HCT 116 Cell Line | EDJ-KQ19133 | Human | 79109 | Details Get a Quote |
| MAPKAP1 Knockout A-549 Cell Line | EDJ-KQ20488 | Human | 79109 | Details Get a Quote |
| MAPKAP1 Knockout HeLa Cell Line | EDJ-KQ20490 | Human | 79109 | Details Get a Quote |
