Homo sapiens Protein: MPDZ | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-601207.3 | ||||||||||||||||||||||
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 | ENSP00000439807 | ||||||||||||||||||||||
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 IPR004172 L27 IPR015132 L27-2 |
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PFAM |
PF00595
PF13180 PF09045 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00228
SM00569 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O75970 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O75970 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8777 | ||||||||||||||||||||||
UniGene | Hs.169378 | ||||||||||||||||||||||
RefSeq | NP_003820 | ||||||||||||||||||||||
HUGO | HGNC:7208 | ||||||||||||||||||||||
OMIM | 603785 | ||||||||||||||||||||||
CCDS | CCDS47951 | ||||||||||||||||||||||
HPRD | 09155 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB210041 AF093419 AJ001319 AK098775 AL161449 AL162386 AL353639 BC140793 BC144564 CH471071 CR936648 | ||||||||||||||||||||||
GenPept | AAC61870 AAI40794 AAI44565 BAC05409 BAE06123 CAA04680 CAH71899 CAH71900 CAI40490 CAI40491 CAI40492 CAI40493 CAI40494 CAI40495 CAI41236 CAI41237 CAI41238 CAI41239 CAI41240 CAI56786 EAW58704 | ||||||||||||||||||||||