MAP3K9
Mitogen-Activated Protein Kinase Kinase Kinase 9
Gene Information Card
| Symbol | MAP3K9 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase Kinase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.2 |
| NCBI Gene ID | 4293 ncbi.nlm.nih.gov/gene/4293 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | P80192 |
| OMIM ID | 600136 |
| HGNC ID | 6861 |
| Aliases | MLK1, PRKE1 |
Description
MAP3K9 (Mitogen-Activated Protein Kinase Kinase Kinase 9) encodes a serine/threonine kinase belonging to the mixed-lineage kinase (MLK) family. It functions as a MAP3K that activates the JNK and p38 MAPK pathways through phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7. MAP3K9 is involved in neuronal development, apoptosis, and stress responses. Aberrant expression or mutations have been implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MAP3K9 mutations or altered expression may dysregulate JNK signaling, promoting cell survival or proliferation | COSMIC, ClinVar |
| Neurodegenerative disorders | Dysregulation of MAP3K9-mediated JNK signaling contributes to neuronal cell death | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.0 | Low expression |
| A549 | 2.2 | Low expression |
| SH-SY5Y | 6.1 | Higher expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Glu379Lys | Missense | <1% | Unknown functional effect |
| p.Arg441Trp | Missense | <1% | Unknown functional effect |
| p.Leu513Phe | Missense | <1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce kinase activity.
Gain of Function (GOF)
Not well characterized; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not well characterized; no confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004709 – MAP kinase kinase kinase activity | • GO:0007254 – JNK cascade |
| • GO:0006468 – protein phosphorylation | • GO:0005737 – cytoplasm |
| • GO:0005829 – cytosol |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• JNK cascade (Reactome: R-HSA-450294)
Protein Summary
MAP3K9 (MLK1) is a 1020-amino-acid serine/threonine kinase with an N-terminal kinase domain, a leucine zipper region, and a C-terminal domain. It activates the JNK and p38 pathways via phosphorylation of MKK4 and MKK7. The protein is expressed in brain, testis, and other tissues, and is implicated in stress responses, neuronal development, and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP3K9 Knockout HEK293 Cell Line | EDJ-KQ5217 | Human | 4293 | Details Get a Quote |
| MAP3K9 Knockout A-549 Cell Line | EDJ-KQ28229 | Human | 4293 | Details Get a Quote |
| MAP3K9 Knockout HCT 116 Cell Line | EDJ-KQ28230 | Human | 4293 | Details Get a Quote |
| MAP3K9 Knockout HeLa Cell Line | EDJ-KQ28231 | Human | 4293 | Details Get a Quote |
| MAP3K9 Knockout HAP1 Cell Line | EDC08216 | Human | 4293 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
