MAPK8IP1
Mitogen-Activated Protein Kinase 8 Interacting Protein 1
Gene Information Card
| Symbol | MAPK8IP1 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase 8 Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 9479 ncbi.nlm.nih.gov/gene/9479 |
| Ensembl ID | ENSG00000121653 |
| UniProt ID | Q9UQF2 |
| OMIM ID | 604641 |
| HGNC ID | 6882 |
| Aliases | JIP1, IB1, JIP-1, PRKM8IP, FLJ00074 |
Description
MAPK8IP1 encodes a scaffold protein that specifically interacts with the JNK (c-Jun N-terminal kinase) signaling pathway. It binds to MAPK8 (JNK1), MAP2K7 (MKK7), and MAP3K11 (MLK3), facilitating signal transduction. The protein is involved in neuronal development, insulin secretion, and stress response. Mutations in this gene are associated with type 2 diabetes and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Impaired JIP1-mediated JNK signaling in pancreatic beta cells leads to reduced insulin secretion. | OMIM #604641, NCBI Gene |
| Alzheimer Disease | JIP1 modulates amyloid-beta toxicity and tau phosphorylation via JNK pathway. | PubMed, ClinVar |
| Neurodegeneration (general) | Disruption of JIP1 scaffold function alters axonal transport and neuronal survival. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Pancreas | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Heart | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
| MCF7 (breast cancer) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Cys) | Missense | <0.1% | Altered JNK binding affinity |
| c.487G>A (p.Gly163Ser) | Missense | <0.1% | Reduced scaffold stability |
| c.1120_1121insA (p.Thr374Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the JNK-binding domain lead to loss of scaffold function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the JNK-binding region may act as dominant-negative by sequestering upstream kinases.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • JNK cascade (GO:0007254) |
| • cell differentiation (GO:0030154) | • identical protein binding (GO:0042802) |
| • metal ion binding (GO:0046872) |
Pathways
• JNK signaling pathway (KEGG: hsa04010)
• MAPK signaling pathway (KEGG: hsa04010)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
MAPK8IP1 (JIP1) is a 711-amino-acid scaffold protein that assembles a JNK signaling module. It contains an SH3 domain, a JNK-binding domain, and a C-terminal domain that interacts with kinesin light chain for axonal transport. The protein is predominantly expressed in brain and pancreas, where it regulates stress responses and insulin secretion. Post-translational modifications include phosphorylation by JNK itself, creating a feedback loop.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAPK8IP1 Knockout HEK293 Cell Line | EDJ-KQ702 | Human | 9479 | Details Get a Quote |
| MAPK8IP1 Knockout A-549 Cell Line | EDJ-KQ19287 | Human | 9479 | Details Get a Quote |
| MAPK8IP1 Knockout HCT 116 Cell Line | EDJ-KQ19288 | Human | 9479 | Details Get a Quote |
| MAPK8IP1 Knockout HeLa Cell Line | EDJ-KQ19289 | Human | 9479 | Details Get a Quote |
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