MPP7 Gene Summary [Human]
The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | MPP7 |
| Official Name | membrane palmitoylated protein 7 [Source:HGNC Symbol;Acc:HGNC:26542] |
| Ensembl ID | ENSG00000150054 |
| Bio databases IDs | |
| Aliases | membrane palmitoylated protein 7, MAGUK p55 scaffold protein 7 |
| Synonyms | 1110068J02RIK, 2810038M04Rik, 5430426E14RIK, FLJ32798, Gm955, LOC105376467, MAGUK p55 scaffold protein 7, membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MPP7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- guanylate kinase
- Domain present in PSD-95, Dlg, and ZO-1/2
- NK
- protein binding activity, bridging
- canonical PDZ domain
- protein domain specific binding
- protein binding
- PDZ domain
- cpPDZ_Deg_HtrA-like
- L27 domain
- cpPDZ_RseP_YlbL-like
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- asthma
- neoplasia
- open-angle glaucoma
- COVID-19
- acute myeloid leukemia
- dementia
- Achilles tendon injury
- neuroendocrine neoplasm
- psychosis
- tendinopathy
regulates
- protein-protein complex
role in cell
- function
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- lateral plasma membrane
- nucleoplasm
- anchoring junction
- tight junctions
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MPP7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tight junction assembly
- establishment of cell polarity
- protein localization to adherens junction
- positive regulation of protein complex assembly
Cellular Component
Where in the cell the gene product is active
- adherens junction
- tight junction
- MPP7-DLG1-LIN7 complex
- lateral plasma membrane
- cell-cell junction
- cell cortex
- cell junction
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding
- signaling adaptor activity
- cadherin binding
- binding, bridging