MAPKBP1
Mitogen-Activated Protein Kinase Binding Protein 1
Gene Information Card
| Symbol | MAPKBP1 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 23020 ncbi.nlm.nih.gov/gene/23020 |
| Ensembl ID | ENSG00000137814 |
| UniProt ID | O60336 |
| OMIM ID | 609326 |
| HGNC ID | 29517 |
| Aliases | JNKBP1, MGC138290 |
Description
MAPKBP1 (mitogen-activated protein kinase binding protein 1) encodes a scaffold protein that binds to JNK (c-Jun N-terminal kinase) and is involved in JNK signaling pathway regulation. The protein localizes to the cytoplasm and may play a role in stress response and cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | Loss-of-function mutations in MAPKBP1 disrupt JNK signaling, leading to renal tubular degeneration and fibrosis. | ClinVar, OMIM |
| Cystic kidney disease | MAPKBP1 mutations impair ciliary function and renal epithelial integrity. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 4.1 | Low |
| Liver | 3.8 | Low |
| Brain | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cells |
| HeLa | 5.3 | Cervical cancer cells |
| HepG2 | 4.0 | Liver cancer cells |
| A549 | 3.6 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72*) | Nonsense | Rare | Loss of function; associated with nephronophthisis |
| c.1027G>A (p.Gly343Arg) | Missense | Rare | Likely damaging; disrupts JNK binding |
| c.1567_1568del (p.Glu523fs) | Frameshift | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing JNK signaling and causing nephronophthisis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • JUN kinase binding | • protein binding |
| • cytoplasm | • JNK cascade |
| • ciliary basal body |
Pathways
• JNK signaling pathway
• MAPK signaling pathway
Protein Summary
MAPKBP1 is a 1,340-amino-acid scaffold protein that binds to JNK and facilitates JNK-mediated signaling. It is expressed in kidney and testis, and localizes to the cytoplasm and ciliary basal body. Loss-of-function mutations cause nephronophthisis, a renal ciliopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAPKBP1 Knockout HEK293 Cell Line | EDJ-KQ7773 | Human | 23005 | Details Get a Quote |
| MAPKBP1 Knockout A-549 Cell Line | EDJ-KQ33249 | Human | 23005 | Details Get a Quote |
| MAPKBP1 Knockout HCT 116 Cell Line | EDJ-KQ33250 | Human | 23005 | Details Get a Quote |
| MAPKBP1 Knockout HeLa Cell Line | EDJ-KQ33251 | Human | 23005 | Details Get a Quote |
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