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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MPP1
MAGUK p55 scaffold protein 1
Chromosome X · Xq28
NCBI Gene: 4354Ensembl: ENSG00000130830.16HGNC: HGNC:7219UniProt: B4E325
79PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingmembranecell-cell junctionneurodegenerative diseaseneutrophil immunodeficiency syndromeacute myeloid leukemiaimmunodeficiency 86
✦AI Summary

MPP1 (membrane palmitoylated protein 1) is a heavily palmitoylated membrane protein and member of the MAGUK (membrane-associated guanylate kinase homolog) family encoded on the X chrX 1. As a scaffold protein, MPP1 localizes to plasma membrane microdomains including membrane rafts and cell-cell junctions, where it organizes signaling complexes 2. MPP1 regulates protein trafficking and stability through PDZ-domain interactions; notably, it contributes to SLC43A2 trafficking by binding phospho-degrons on substrate proteins 3. The protein functions in membrane organization and signal transduction across multiple cell types 2. In urothelial carcinoma, MPP1 inhibits immune escape by promoting CCL5 expression through binding and stabilizing USP12, thereby enhancing CD8+ T-cell chemotaxis into the tumor microenvironment 4. Low MPP1 expression in urothelial carcinoma correlates with poor immunotherapy response and survival, identifying MPP1 as a potential biomarker for guiding cancer immunotherapy 4. The MPP1 gene structure is conserved across mammals, spanning approximately 28 kb with 12 exons on Xq28, supporting its fundamental biological importance 1.

Sources cited
1
MPP1 is a palmitoylated phosphoprotein and MAGUK family member; genomic structure spans 28 kb with 12 exons on Xq28
PMID: 8824805
2
MPP1 functions as a raft organizer in membrane microdomains and participates in signal transduction in erythroid and other blood cells
PMID: 31099889
3
MPP1 is a PDZ-domain protein contributing to trafficking and protein stability of SLC43A2
PMID: 40355756
4
MPP1 inhibits immune escape in urothelial carcinoma via the USP12/CCL5 axis and promotes CD8+ T-cell chemotaxis; low expression predicts poor immunotherapy response
PMID: 39700963
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
neutrophil immunodeficiency syndromeOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
immunodeficiency 86Open Targets
0.05Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.04Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.04Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.04Suggestive
immunodeficiency 76Open Targets
0.04Suggestive
Mast Cell SarcomaOpen Targets
0.04Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.03Suggestive
immunodeficiency 81Open Targets
0.03Suggestive
Immunodeficiency syndrome with autoimmunityOpen Targets
0.03Suggestive
severe combined immunodeficiency due to DCLRE1C deficiencyOpen Targets
0.03Suggestive
activated PI3K-delta syndromeOpen Targets
0.03Suggestive
Mantle cell lymphomaOpen Targets
0.03Suggestive
immunodeficiency 69Open Targets
0.03Suggestive
immunodeficiency 64Open Targets
0.03Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EPS8L2Protein interaction95%CAMK2AProtein interaction95%MYO15AProtein interaction94%ESPNProtein interaction93%EPB41Protein interaction92%WHRNProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
47%
Brain
36%
Heart
28%
Liver
25%
Ovary
12%
Gene Interaction Network
Click a node to explore
MPP1EPS8L2CAMK2AMYO15AESPNEPB41WHRN
PROTEIN STRUCTURE
Preparing viewer…
PDB3NEY · 2.26 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.09–0.31]
RankingsWhere MPP1 stands among ~20K protein-coding genes
  • #6,012of 20,598
    Most Researched79
  • #1,216of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedMPP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The solute carrier superfamily interactome.
PMID: 40355756
Mol Syst Biol · 2025
1.00
2
Efficacy of Oral Cryotherapy in the Prevention of Oral Mucositis Associated with Cancer Chemotherapy: Systematic Review with Meta-Analysis and Trial Sequential Analysis.
PMID: 34436016
Curr Oncol · 2021
0.90
3
cDNA sequence and genomic structure of the murine p55 (Mpp1) gene.
PMID: 8954807
Genomics · 1996
0.80
4
MPP1-based mechanism of resting state raft organization in the plasma membrane. Is it a general or specialized mechanism in erythroid cells?
PMID: 31099889
Folia Histochem Cytobiol · 2019
0.70
5
PMID: 34285255
0.60