• Gene id: 9365

Gene Summary

• Gene Symbol: KL   Gene   UCSC   Ensembl
• Aliases: HFTC3
• Gene name: klotho
• Alternate names: klotho,
• Gene location: 13q13.1 (33016062: 33066142)     Exons: 6     NC_000013.11
• Gene summary(Entrez): This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (
• OMIM: 165040

Protein Summary

• Protein general information: Q9UEF7  
  • Name: Klotho (EC 3.2.1.31) [Cleaved into: Klotho peptide]
  • Length: 1012  
  • Mass: 116181
  • 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 car
• Sequence:

  MPASAPPRRPRPPPPSLSLLLVLLGLGGRRLRAEPGDGAQTWARFSRPPAPEAAGLFQGTFPDGFLWAVGSAAYQ
  TEGGWQQHGKGASIWDTFTHHPLAPPGDSRNASLPLGAPSPLQPATGDVASDSYNNVFRDTEALRELGVTHYRFS
  ISWARVLPNGSAGVPNREGLRYYRRLLERLRELGVQPVVTLYHWDLPQRLQDAYGGWANRALADHFRDYAELCFR
  HFGGQVKYWITIDNPYVVAWHGYATGRLAPGIRGSPRLGYLVAHNLLLAHAKVWHLYNTSFRPTQGGQVSIALSS
  HWINPRRMTDHSIKECQKSLDFVLGWFAKPVFIDGDYPESMKNNLSSILPDFTESEKKFIKGTADFFALCFGPTL
  SFQLLDPHMKFRQLESPNLRQLLSWIDLEFNHPQIFIVENGWFVSGTTKRDDAKYMYYLKKFIMETLKAIKLDGV
  DVIGYTAWSLMDGFEWHRGYSIRRGLFYVDFLSQDKMLLPKSSALFYQKLIEKNGFPPLPENQPLEGTFPCDFAW
  GVVDNYIQVDTTLSQFTDLNVYLWDVHHSKRLIKVDGVVTKKRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWA
  LILPLGNQSQVNHTILQYYRCMASELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENPYTALAFAEYARLCFQ
  ELGHHVKLWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRHAQNGKISIALQADWIEPACPFSQKDKEVAE
  RVLEFDIGWLAEPIFGSGDYPWVMRDWLNQRNNFLLPYFTEDEKKLIQGTFDFLALSHYTTILVDSEKEDPIKYN
  DYLEVQEMTDITWLNSPSQVAVVPWGLRKVLNWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALK
  AHILDGINLCGYFAYSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGFPGPETLERFCPEEFTVCTECSF
  FHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK

• Structural information:
  • Interpro: IPR001360  IPR033132  IPR017853  IPR028546  
  • Prosite: PS00653
  • PDB: 5W21
  • PDBsum: 5W21
  • STRING: ENSP00000369442
• Other Databases: GeneCards:  KL  Malacards:  KL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008422	beta-glucosidase activity	IBA	molecular function
GO:0017134	fibroblast growth factor binding	IBA	molecular function
GO:0005104	fibroblast growth factor receptor binding	IBA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	IBA	biological process
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005499	vitamin D binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005179	hormone activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008422	beta-glucosidase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0004566	beta-glucuronidase activity	IEA	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0090080	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0017134	fibroblast growth factor binding	IEA	molecular function
GO:0007568	aging	IEA	biological process
GO:0006112	energy reserve metabolic process	IEA	biological process
GO:0005104	fibroblast growth factor receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:0007568	aging	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04211	Longevity regulating pathway
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa00040	Pentose and glucuronate interconversions

Diseases

Associated diseases	References
Familial tumoral calcinosis	KEGG:H01193
Familial tumoral calcinosis	KEGG:H01193
Prinzmetal angina	PMID:16579981
Spondylosis	PMID:12110410
Coronary artery disease	PMID:16979405
Intracranial embolism	PMID:16973281
Chronic kidney disease	PMID:21115613
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq