Manteia

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 name	ID	Species
kl	ENSDARG00000079862	Danio rerio
KL	ENSGALG00000017068	Gallus gallus
Kl	ENSMUSG00000058488	Mus musculus

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
KLB / Q86Z14 / klotho beta	ENSG00000134962	45
LCT / P09848 / lactase	ENSG00000115850	38
LCTL / Q6UWM7 / lactase like	ENSG00000188501	21
GBA3 / glucosylceramidase beta 3 (gene/pseudogene)	ENSG00000249948	19

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)

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

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

Phenotype

Definition

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	/ complex / reaction
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	/ complex / reaction
ENSG00000179295	PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11	/ complex / reaction
ENSG00000160691	SHC1 / P29353 / SHC adaptor protein 1	/ complex / reaction
ENSG00000124181	PLCG1 / P19174 / phospholipase C gamma 1	/ complex / reaction
ENSG00000133703	KRAS / P01116 / KRAS proto-oncogene, GTPase	/ reaction
ENSG00000110395	CBL / P22681 / Cbl proto-oncogene	/ complex / reaction
ENSG00000174775	HRAS / P01112 / HRas proto-oncogene, GTPase	/ reaction
ENSG00000213281	NRAS / P01111 / NRAS proto-oncogene, GTPase	/ reaction
ENSG00000133116	KL / klotho / Q9UEF7	/ complex / reaction
ENSG00000166225	FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2	/ complex / reaction
ENSG00000115904	SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1	/ complex / reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2025 contact: otassy@igbmc.fr