| Gene Symbol |
PKD1
|
| Entrez Gene |
5310
|
| Alt Symbol |
PBP, Pc-1, TRPP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polycystic kidney disease 1 (autosomal dominant)
|
| Other Description |
autosomal dominant polycystic kidney disease 1 protein|polycystic kidney disease-associated protein|polycystin 1|polycystin-1|transient receptor potential cation channel, subfamily P, member 1
|
| Swissprots |
Q15141 Q15140 P98161
|
| Accessions |
AAB59488 AAC34211 AAC41765 ACN97591 ACN97592 ACN97593 AIT52087 AJP06022 EAW85553 EAW85554 EAW85555 P98161 AB209025 BAD92262 AB209675 BAD92912 AK309422 CN268814 L33243 AAC37576 U24497 AAC50128 XM_005255370 XP_005255427 XM_011522525 XP_011520827 XM_011522526 XP_011520828 XM_011522527 XP_011520829 XM_011522528 XP_011520830 XM_011522529 XP_011520831 XM_011522530 XP_011520832 XM_011522531 XP_011520833 XM_011522532 XP_011520834 XM_011522533 XP_011520835 XM_011522534 XP_011520836 XM_011522535 XP_011520837 XM_011522536 XP_011520838 XM_011522537 XP_011520839 XR_932867 XR_932868 XR_932869 XR_932870 NM_000296 NP_000287 NM_001009944 NP_001009944
|
| Function |
Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear- mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein- carbohydrate interactions. {ECO:0000250|UniProtKB:O08852, ECO:0000269|PubMed:12482949}.
|
| Subcellular Location |
Membrane {ECO:0000269|PubMed:20980620}; Multi-pass membrane protein {ECO:0000269|PubMed:20980620}. Cell projection, cilium {ECO:0000250|UniProtKB:O08852}. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). {ECO:0000250|UniProtKB:O08852}.
|