MAP3K13
Mitogen-Activated Protein Kinase Kinase Kinase 13
Gene Information Card
| Symbol | MAP3K13 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase Kinase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.2 |
| NCBI Gene ID | 7785 ncbi.nlm.nih.gov/gene/7785 |
| Ensembl ID | ENSG00000114737 |
| UniProt ID | O43283 |
| OMIM ID | 604835 |
| HGNC ID | 6852 |
| Aliases | LZK, MEKK13, MUK, DLK, ZPK |
Description
MAP3K13 (Mitogen-Activated Protein Kinase Kinase Kinase 13) encodes a serine/threonine kinase belonging to the MAP3K family. The protein, also known as LZK (Leucine Zipper-bearing Kinase), activates the JNK and p38 MAPK signaling pathways through phosphorylation of MAP2Ks. It plays roles in neuronal development, stress response, and apoptosis. MAP3K13 is implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulated MAP3K13 expression or mutation may alter JNK/p38 signaling, promoting cell proliferation or survival. | COSMIC; ClinVar |
| Neurodegenerative diseases | MAP3K13 may contribute to neuronal cell death via JNK pathway activation. | UniProt; OMIM |
| Amyotrophic lateral sclerosis (ALS) | Rare variants in MAP3K13 have been associated with ALS risk. | ClinVar; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Moderate expression |
| SH-SY5Y | 18.5 | High expression (neuronal) |
| A549 | 7.3 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly388Arg | Missense | 0.02% (COSMIC) | Unknown functional effect |
| p.Arg487Cys | Missense | 0.01% (ClinVar) | Likely benign |
| c.1234_1235insA | Frameshift insertion | Rare (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the kinase domain are predicted to cause loss of function.
Gain of Function (GOF)
Missense mutations in the kinase domain may lead to constitutive activation of JNK signaling.
Dominant Negative (DN)
Mutations affecting dimerization or substrate binding could act in a dominant-negative manner.
View complete mutation data:
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • MAP kinase kinase kinase activity |
| • ATP binding | • signal transduction |
| • JNK cascade | • apoptotic process |
| • nervous system development |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• JNK signaling pathway
• p38 MAPK signaling pathway
Protein Summary
MAP3K13 (LZK) is a 1046-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal leucine zipper domain. It functions as a MAP3K that phosphorylates and activates MAP2K4/MAP2K7, leading to JNK activation, and MAP2K3/MAP2K6, leading to p38 activation. The protein is highly expressed in the brain and is involved in neuronal differentiation, stress responses, and cell death. Its activity is regulated by dimerization and autophosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP3K13 Knockout HEK293 Cell Line | EDJ-KQ688 | Human | 9175 | Details Get a Quote |
| MAP3K13 Knockout A-549 Cell Line | EDJ-KQ19244 | Human | 9175 | Details Get a Quote |
| MAP3K13 Knockout HCT 116 Cell Line | EDJ-KQ19245 | Human | 9175 | Details Get a Quote |
| MAP3K13 Knockout HeLa Cell Line | EDJ-KQ19246 | Human | 9175 | Details Get a Quote |
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