Homo sapiens Protein: MPDZ | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-363445.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | MPDZ | ||||||||||||||||||||||
Protein Name | multiple PDZ domain protein | ||||||||||||||||||||||
Synonyms | HYC2; MUPP1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000415964 | ||||||||||||||||||||||
InnateDB Gene | IDBG-49995 (MPDZ) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses. {ECO:0000250, ECO:0000269PubMed:11150294, ECO:0000269PubMed:15312654}. | ||||||||||||||||||||||
Subcellular Localization | Cell membrane; Peripheral membrane protein; Cytoplasmic side. Apical cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendrite. Cell junction, tight junction. Cell junction, synapse. Cell junction, synapse, synaptosome. Note=Associated with membranes. Colocalizes with HTR2C on the apical membrane of epithelial choroid plexus cells. Highly enriched in postsynaptic densities (PSD). Localized to punctae on dendrites of hippocampal neurons and colocalizes with the synaptic marker DLG4. Localized mainly in the Schmidt-Lanterman incisures of myelinating Schwann cells (By similarity). In the retina, localizes to the sub-apical region adjacent to the adherens junction complex at the outer limiting membrane. Enriched at the tight junctions of epithelial cells. Association to the tight junctions depends on CXADR. {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Hydrocephalus, non-syndromic, autosomal recessive 2 (HYC2) [MIM:615219]: A disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment. {ECO:0000269PubMed:23240096}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:9537516}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001478
PDZ domain |
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PFAM |
PF00595
PF13180 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00228
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
PhosphoSite | PhosphoSite-O75970 | ||||||||||||||||||||||
TrEMBL | B3KQC9 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8777 | ||||||||||||||||||||||
UniGene | Hs.169378 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:7208 | ||||||||||||||||||||||
OMIM | 603785 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 09155 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AK074721 AL161449 AL162386 AL353639 | ||||||||||||||||||||||
GenPept | BAG51991 | ||||||||||||||||||||||