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Details on Person UniProt:Q9UEF7-1 KL
| Class:Id | ReferenceIsoform:190199 |
|---|---|
| _chainChangeLog | signal peptide:1-33 added on Fri February 6 2015;chain:34-1012 added on Fri February 6 2015;chain:34- added on Fri February 6 2015 |
| _displayName | UniProt:Q9UEF7-1 KL |
| _timestamp | 2025-02-21 18:48:07 |
| chain | signal peptide:1-33 chain:34-1012 chain:34- |
| checksum | 62031BD73E322E63 |
| comment | 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).FUNCTION The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.CATALYTIC ACTIVITY a beta-D-glucuronoside + H2O = D-glucuronate + an alcoholSUBUNIT Homodimer. Interacts with FGF23 and FGFR1.SUBCELLULAR LOCATION Isoform 1 shedding leads to a soluble peptide.SUBCELLULAR LOCATION 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.DOMAIN Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 239, and the second one lacks the essential Glu active site residue at position 872.PTM N-glycosylated.POLYMORPHISM Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular disease risk.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Defects in KL may be a cause of chronic renal failure complications.MISCELLANEOUS Predominates over the membrane form in all tissues examined.SIMILARITY Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.ONLINE INFORMATION The thread of life - Issue 65 of December 2005 |
| created | [InstanceEdit:190200] de Bono, B, 2006-12-18 09:54:45 |
| description | recommendedName: Klotho ecNumber: 3.2.1.31 component recommendedName: Klotho peptide /component |
| geneName | KL |
| identifier | Q9UEF7 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell membrane Disease variant Glycoprotein Glycosidase Hormone Hydrolase Membrane Proteomics identification Reference proteome Repeat Secreted Signal Transmembrane Transmembrane helix Vitamin D |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | KL |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998954] ENSEMBL:ENSG00000133116 KL [Homo sapiens] |
| secondaryIdentifier | KLOT_HUMAN Q5VZ95 Q96KV5 Q96KW5 Q9UEI9 Q9Y4F0 |
| sequenceLength | 1012 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q9UEF7-1 |
| (referenceEntity) | [EntityWithAccessionedSequence:190198] KL-1 [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9UEF7-1 KL (190199)
