MAP4K5
Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5
Gene Information Card
| Symbol | MAP4K5 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 11183 ncbi.nlm.nih.gov/gene/11183 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9Y4K4 |
| OMIM ID | 603311 |
| HGNC ID | 6866 |
| Aliases | GCK, KHS1, MAPKKKK5, MEKKK5 |
Description
MAP4K5 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5) is a protein-coding gene that encodes a member of the Ste20 family of serine/threonine kinases. This kinase acts as an upstream activator of the JNK and p38 MAP kinase pathways, playing a role in stress response, cell proliferation, and apoptosis. It is involved in signal transduction from cell surface receptors to the nucleus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | MAP4K5 overexpression or mutation may contribute to tumorigenesis through dysregulation of MAPK signaling pathways. | COSMIC database reports mutations in multiple cancer types. |
| Neurodegenerative disorders | Potential involvement in neuronal stress response via JNK pathway activation. | Limited evidence; inferred from pathway studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 18.2 | Medium |
| Spleen | 15.8 | Medium |
| Bone marrow | 12.4 | Medium |
| Brain | 6.5 | Low |
| Heart | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 20.5 | Leukemia cell line |
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 12.8 | Lung cancer cell line |
| HEK 293 | 10.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.567_568insC (p.Leu190fs) | Frameshift | 0.01% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu190fs) likely result in truncated, non-functional protein.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance kinase activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004709 – MAP kinase kinase kinase kinase activity | • GO:0006468 – protein phosphorylation |
| • GO:0007254 – JNK cascade | • GO:0035556 – intracellular signal transduction |
| • GO:0043123 – positive regulation of I-kappaB kinase/NF-kappaB signaling |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• JNK cascade (Reactome: R-HSA-450294)
• p38 MAPK pathway (Reactome: R-HSA-450302)
Protein Summary
MAP4K5 is a 846-amino acid serine/threonine kinase containing an N-terminal kinase domain and a C-terminal regulatory region. It functions as a MAP4K, phosphorylating and activating MAP3Ks such as MEKK1, leading to JNK and p38 activation. The protein is widely expressed, with highest levels in hematopoietic tissues. It plays roles in stress responses, cytokine signaling, and cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP4K5 Knockout HEK293 Cell Line | EDJ-KQ7322 | Human | 11183 | Details Get a Quote |
| MAP4K5 Knockout A-549 Cell Line | EDJ-KQ32392 | Human | 11183 | Details Get a Quote |
| MAP4K5 Knockout HCT 116 Cell Line | EDJ-KQ32393 | Human | 11183 | Details Get a Quote |
| MAP4K5 Knockout HeLa Cell Line | EDJ-KQ32394 | Human | 11183 | Details Get a Quote |
| MAP4K5 Knockout HAP1 Cell Line | EDC07903 | Human | 11183 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
