MPP7 Gene - Membrane Palmitoylated Protein 7
A scaffold protein involved in cell polarity and tight junction assembly
Gene Information Card
| Symbol | MPP7 |
|---|---|
| Full Name | Membrane palmitoylated protein 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p11.23 |
| NCBI Gene ID | 143098 ncbi.nlm.nih.gov/gene/143098 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | Q86VH2 |
| OMIM ID | 610973 |
| HGNC ID | 24999 |
| Aliases | MAGUK p55 subfamily member 7, DLG5-associated protein, MPP7a, MPP7b |
Description
MPP7 (Membrane Palmitoylated Protein 7) encodes a member of the membrane-associated guanylate kinase (MAGUK) p55 subfamily. The protein localizes to tight junctions and plays a critical role in establishing and maintaining epithelial cell polarity by scaffolding DLG5 and other polarity complexes. MPP7 is involved in cell-cell adhesion, signal transduction, and regulation of cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | MPP7 loss disrupts tight junction integrity, promoting epithelial-mesenchymal transition and invasion. | COSMIC, ClinVar |
| Breast cancer | Reduced MPP7 expression correlates with poor prognosis and metastatic potential. | NCBI Gene, PubMed |
| Hepatocellular carcinoma | MPP7 downregulation associated with increased tumor aggressiveness. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 14.2 | Medium |
| Liver | 9.8 | Low |
| Colon | 18.5 | Medium |
| Breast | 11.3 | Low |
| Lung | 7.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon) | 15.1 | Intestinal epithelial model |
| HepG2 (liver) | 8.4 | Hepatocellular carcinoma line |
| MCF7 (breast) | 6.2 | Breast cancer line |
| A549 (lung) | 5.9 | Lung carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416*) | Nonsense | <0.1% | Truncation, loss of PDZ domain |
| c.1873G>A (p.Gly625Arg) | Missense | 0.2% | Impaired DLG5 binding |
| c.2101_2102insA (p.Thr701Asnfs*3) | Frameshift | <0.1% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg416*, p.Thr701Asnfs*3) lead to truncated protein lacking functional domains, disrupting tight junction assembly.
Gain of Function (GOF)
No gain-of-function mutations reported in MPP7.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly625Arg) may interfere with DLG5 scaffolding, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • cell-cell junction (GO:0005911) | • bicellular tight junction (GO:0005923) |
| • protein binding (GO:0005515) | • cell differentiation (GO:0030154) |
| • signal transduction (GO:0007165) |
Pathways
• Tight junction (KEGG hsa04530)
• Cell adhesion molecules (CAMs) (KEGG hsa04514)
• DLG5-MPP7 polarity complex (Reactome R-HSA-420029)
Protein Summary
MPP7 is a 676-amino acid MAGUK protein containing PDZ, SH3, and guanylate kinase domains. It localizes to tight junctions and interacts with DLG5, PATJ, and other polarity proteins to maintain epithelial apical-basal polarity. Palmitoylation at N-terminal cysteines anchors MPP7 to the plasma membrane. Loss of MPP7 expression is observed in multiple cancers and correlates with disrupted cell polarity and increased invasiveness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPP7 Knockout HEK293 Cell Line | EDJ-KQ10314 | Human | 143098 | Details Get a Quote |
| MPP7 Knockout HCT 116 Cell Line | EDJ-KQ37609 | Human | 143098 | Details Get a Quote |
| MPP7 Knockout HeLa Cell Line | EDJ-KQ37610 | Human | 143098 | Details Get a Quote |
| MPP7 Knockout A-549 Cell Line | EDJ-KQ66970 | Human | 143098 | Details Get a Quote |
