InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MPDZ

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.