InnateDB Protein
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IDBP-388103.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PDZK1
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Protein Name
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PDZ domain containing 1
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Synonyms
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CAP70; CLAMP; NHERF-3; NHERF3; PDZD1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000409291
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InnateDB Gene
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IDBG-101779 (PDZK1)
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Protein Structure
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Function |
A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Associated with peripheral membranes. Localizes to the apical compartment of proximal tubular cells and to sinusoidal liver membranes (By similarity). {ECO:0000250}.
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Disease Associations |
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Tissue Specificity |
Expression is limited to epithelial cells. Expressed in the kidney (brush border of proximal tubule), pancreas, liver, and small intestine. Expressed at a lower level in the adrenal cortex, testis and stomach. Overexpressed in breast, renal and lung carcinomas. {ECO:0000269PubMed:10496535, ECO:0000269PubMed:11051556, ECO:0000269PubMed:9461128}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
36
[view]
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Protein-Protein |
35
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001478
PDZ domain
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PFAM |
PF00595
PF13180
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PRINTS |
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PIRSF |
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SMART |
SM00228
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TIGRFAMs |
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Modification |
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SwissProt |
Q5T2W1
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PhosphoSite |
PhosphoSite-Q5T2W1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
5174
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UniGene |
Hs.709809
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RefSeq |
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HUGO |
HGNC:8821
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OMIM |
603831
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CCDS |
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HPRD |
04829
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IMGT |
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EMBL |
AF012281
AK298269
AL390725
BC006496
BC006518
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GenPept |
AAC12264
AAH06496
AAH06518
BAG60531
CAI13715
CAI13716
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