Gene Gene information from NCBI Gene database.
Entrez ID 4354
Gene name MAGUK p55 scaffold protein 1
Gene symbol MPP1
Synonyms (NCBI Gene)
AAG12DXS552EEMP55MRG1PEMP
Chromosome X
Chromosome location Xq28
Summary This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensiv
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT046417 hsa-miR-15b-5p CLASH 23622248
MIRT727164 hsa-miR-92a-3p HITS-CLIP 22473208
MIRT727163 hsa-miR-92b-3p HITS-CLIP 22473208
MIRT727162 hsa-miR-32-5p HITS-CLIP 22473208
MIRT1156267 hsa-miR-1283 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0004385 Function GMP kinase activity IEA
GO:0004385 Function GMP kinase activity TAS 1310897
GO:0005102 Function Signaling receptor binding IBA
GO:0005515 Function Protein binding IPI 17584769, 19144871, 21903422, 25416956, 26871637, 29146910, 32296183, 32814053
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
305360 7219 ENSG00000130830
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00013
Protein name 55 kDa erythrocyte membrane protein (p55) (Membrane protein, palmitoylated 1)
Protein function Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity).
PDB 2EJY , 2EV8 , 3NEY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 71 149 PDZ domain Domain
PF00018 SH3_1 164 220 SH3 domain Domain
PF00625 Guanylate_kin 281 453 Guanylate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:17584769}.
Sequence
Sequence length 466
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs371958769 RCV005927175
Lung cancer Uncertain significance rs371958769 RCV005927176
Squamous cell lung carcinoma Uncertain significance rs371958769 RCV005927174
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Sickle Cell Associate 19914412
Osteosarcoma Associate 38169731