KL

Symbol: KL
Name: klotho
Entrez gene ID: 9365
Ensembl gene ID: ENSG00000133116
Species: Human (Taxid: 9606)

Functional description:
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). 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 (By similarity). [UniProt]

Observation:

The KL-VS allele of the klotho gene is more common in infants than in elderly individuals. Individuals homozygous for KL-VS have a 2.6-fold greater chance of dying by age 65 than individuals that are homozyogous that are homozyogous for the wild-type klotho allele [11792841]. KL was found to be associated with longevity [17903295; 22406557; 15677572]. KL was not found to be associated with longevity [18034366]. KL was found to be associated with longevity [24164579].



Assays: Organismal Lifespan

Longevity Associated Variants:
  • rs9536314 0.007 [15677572]
  • rs1207362 0.0001 [22406557]
  • rs1207362 0.0001 [22406557]
  • rs952706 None [18034366]
  • rs9536314 0.05 [24164579]

  • Classification:
  • Longevity-Associated
  • No Age Effect


  • Type:
  • Gene
  • Protein coding

    References:
  • 17903295: Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
  • 22406557: Human longevity and variation in GH/IGF-1/insulin signaling, DNA damage signaling and repair and pro/antioxidant pathway genes: cross sectional and longitudinal studies.
  • 15677572: Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity.
  • 18034366: Lack of replication of genetic associations with human longevity.
  • 11792841: Association of human aging with a functional variant of klotho.


  • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

  • Homologs
  • KL (9606)
  • KL (9598)
  • KL (9913)
  • Kl (10090)
  • Kl (10116)
  • KL (9031)
  • LOC562316 (7955)

  • Inparanoids
  • ENSMUSP00000077899 (10090)
  • ENSRNOP00000001449 (10116)
  • ENSMMUP00000022434 (9544)



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