| Gene Symbol | KL |
|---|---|
| Entrez Gene | 9365 |
| Alt Symbol | - |
| Species | Human |
| Gene Type | protein-coding |
| Description | klotho |
| Other Description | - |
| Swissprots | Q96KV5 Q9UEI9 Q5VZ95 Q96KW5 Q9UEF7 Q9Y4F0 |
| Accessions | BAA24940 BAA24941 BAL03067 CAC94767 CAC94773 CAR95139 EAX08525 EAX08526 Q9UEF7 AA890465 AB005142 BAA23382 AK097349 BAG53456 CB988086 XM_006719895 XP_006719958 NM_004795 NP_004786 NM_153683 |
| Function | May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity). {ECO:0000250}. |
| Subcellular Location | Klotho peptide: Secreted. |
| Tissue Specificity | Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell carcinomas, hepatocellular carcinomas, and in chronic renal failure kidney. {ECO:0000269|PubMed:10631108, ECO:0000269|PubMed:11043382, ECO:0000269|PubMed:11162628, ECO:0000269|PubMed:15135068, ECO:0000269|PubMed:9464267}. |
| Top Pathways | Endocrine and other factor-regulated calcium reabsorption, Pentose and glucuronate interconversions, Starch and sucrose metabolism |