| Gene Symbol |
PDZK1
|
| Entrez Gene |
5174
|
| Alt Symbol |
CAP70, CLAMP, NHERF-3, NHERF3, PDZD1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
PDZ domain containing 1
|
| Other Description |
CFTR-associated protein of 70 kDa|Na(+)/H(+) exchange regulatory cofactor NHE-RF3|PDZ-containing kidney protein 1|na/Pi cotransporter C-terminal-associated protein 1|naPi-Cap1|sodium-hydrogen exchanger regulatory factor 3
|
| Swissprots |
O60450 Q5T5P6 Q9BQ41 B4DPB9 Q5T2W1 E7EU02
|
| Accessions |
CAI13715 CAI13716 EAW71441 EAW71442 EAW71443 Q5T2W1 AF012281 AAC12264 AK298269 BAG60531 AK313100 BAG35924 AM393525 CAL38402 BC006496 AAH06496 BC006518 AAH06518 BX477678 XM_011509616 XP_011507918 XM_011509617 XP_011507919 XM_011509618 XP_011507920 XM_011509619 XP_011507921 NM_001201325 NP_001188254 NM_001201326 NP_001188255 NM_002614 NP_002605
|
| 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
|
| Subcellular Location |
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}.
|
| 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:0000269|PubMed:10496535, ECO:0000269|PubMed:11051556, ECO:0000269|PubMed:9461128}.
|