| Gene Symbol |
PKD1L1
|
| Entrez Gene |
168507
|
| Alt Symbol |
PRO19563
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polycystic kidney disease 1 like 1
|
| Other Description |
PC1-like 1 protein|polycystic kidney disease protein 1-like 1|polycystin-1L1
|
| Swissprots |
Q8TDX9 Q6UWK1
|
| Accessions |
EAW61003 EAW61004 EAW61005 EAW61006 EAW61007 Q8TDX9 AB061683 BAB85807 AI860869 AY358757 AAQ89117 BF062285 CN283529 XM_011515163 XP_011513465 NM_138295 NP_612152
|
| Function |
Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. {ECO:0000269|PubMed:24336289}.
|
| Subcellular Location |
Cell projection, cilium membrane {ECO:0000269|PubMed:24336289}; Multi-pass membrane protein {ECO:0000269|PubMed:24336289}.
|
| Tissue Specificity |
Detected in testis and in fetal and adult heart.
|