ENSG00000133116


Homo sapiens

Features
Gene ID: ENSG00000133116
  
Biological name :KL
  
Synonyms : KL / klotho / Q9UEF7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q13.1
Gene start: 33016433
Gene end: 33066145
  
Corresponding Affymetrix probe sets: 205978_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369442
NCBI entrez gene - 9365     See in Manteia.
OMIM - 604824
RefSeq - NM_004795
RefSeq - XM_006719895
RefSeq Peptide - NP_004786
swissprot - Q9UEF7
Ensembl - ENSG00000133116
  
Related genetic diseases (OMIM): 617994 - ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 klENSDARG00000079862Danio rerio
 KLENSGALG00000017068Gallus gallus
 KlENSMUSG00000058488Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLB / Q86Z14 / klotho betaENSG0000013496245
LCT / P09848 / lactaseENSG0000011585038
LCTL / Q6UWM7 / lactase likeENSG0000018850121
GBA3 / glucosylceramidase beta 3 (gene/pseudogene)ENSG0000024994819


Protein motifs (from Interpro)
Interpro ID Name
 IPR001360  Glycoside hydrolase family 1
 IPR017853  Glycoside hydrolase superfamily
 IPR028546  Klotho
 IPR033132  Glycosyl hydrolases family 1, N-terminal conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006112 energy reserve metabolic process IEA
 biological_processGO:0007568 aging IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008286 insulin receptor signaling pathway IEA
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway IBA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0030501 positive regulation of bone mineralization IMP
 biological_processGO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0055074 calcium ion homeostasis IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0090080 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
 biological_processGO:1901657 glycosyl compound metabolic process IBA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0004566 beta-glucuronidase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005104 fibroblast growth factor receptor binding IEA
 molecular_functionGO:0005179 hormone activity IEA
 molecular_functionGO:0005499 vitamin D binding IEA
 molecular_functionGO:0008422 beta-glucosidase activity TAS
 molecular_functionGO:0016303 1-phosphatidylinositol-3-kinase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0017134 fibroblast growth factor binding IEA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100030 MAPK1 / P28482 / mitogen-activated protein kinase 1  / reaction
 ENSG00000126500 FLRT1 / Q9NZU1 / fibronectin leucine rich transmembrane protein 1  / complex / reaction
 ENSG00000118972 FGF23 / Q9GZV9 / fibroblast growth factor 23  / reaction / complex
 ENSG00000137218 FRS3 / O43559 / fibroblast growth factor receptor substrate 3  / complex / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000102882 MAPK3 / P27361 / mitogen-activated protein kinase 3  / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000077782 FGFR1 / P11362 / fibroblast growth factor receptor 1  / complex / reaction
 ENSG00000185070 FLRT2 / O43155 / fibronectin leucine rich transmembrane protein 2  / complex / reaction
 ENSG00000125848 FLRT3 / Q9NZU0 / fibronectin leucine rich transmembrane protein 3  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / complex / reaction
 ENSG00000133116 KL / klotho / Q9UEF7  / reaction / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex






 

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