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KL klotho [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_004795 Homo sapiens klotho (KL), mRNA. Full Length $2255.40
ORF Sequence $1063.65


Gene Symbol KL
Entrez Gene ID 9365
Full Name klotho
Synonyms
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q12
Summary 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 (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq].
Disorder

MIM: 604824

{Coronary artery disease, susceptibility to} (3); Tumoral calcinosis,
mRNA NM_004795, 209529721
Protein NP_004786, 24497614
Product klotho precursor
RefSeq Status REVIEWED
Reactome
REACT_9510FGFR3c ligand binding and activation
REACT_21272Downstream signaling of activated FGFR
REACT_9483FGFR1 ligand binding and activation
REACT_9515FGFR1c ligand binding and activation
REACT_9390FGFR2 ligand binding and activation
REACT_9413FGFR2c ligand binding and activation
REACT_9396FGFR ligand binding and activation
REACT_9400FGFR1b ligand binding and activation
REACT_9470Signaling by FGFR
REACT_21270PI-3K cascade
REACT_9416FGFR2b ligand binding and activation
REACT_9439FGFR3 ligand binding and activation
REACT_21310Phospholipase C-mediated cascade
REACT_976PI3K Cascade
REACT_1195Insulin receptor signalling cascade
REACT_762IRS-related events
REACT_21247FRS2-mediated cascade
REACT_9508FGFR3b ligand binding and activation
REACT_9452FGFR4 ligand binding and activation
REACT_498Signaling by Insulin receptor
REACT_9484FGFR1c and Klotho ligand binding and activation
REACT_332IRS-mediated signalling
Homo sapiens (human)KLNP_004786.2
Pan troglodytes (chimpanzee)KLXP_522655.2
Bos taurus (cattle)KLXP_001252500.1
Mus musculus (house mouse)KlNP_038851.1
Rattus norvegicus (Norway rat)KlNP_112626.1
Gallus gallus (chicken)KLXP_417105.2
Danio rerio (zebrafish)LOC562316XP_690797.2
Process
IDNameEvidence
GO:0002526acute inflammatory responseIEA
GO:0005975carbohydrate metabolic processIEA
GO:0006112energy reserve metabolic processIEA
GO:0007568agingIMP
GO:0008286insulin receptor signaling pathwayTAS
GO:0008543fibroblast growth factor receptor signaling pathwayEXP
GO:0008543fibroblast growth factor receptor signaling pathwayTAS
GO:0030501positive regulation of bone mineralizationIMP
GO:0090080positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayIEA
Component
IDNameEvidence
GO:0005576extracellular regionEXP
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceTAS
GO:0005624membrane fractionTAS
GO:0005625soluble fractionTAS
GO:0005886plasma membraneEXP
GO:0005886plasma membraneTAS
GO:0005887integral to plasma membraneTAS
GO:0016021integral to membraneTAS
Function
IDNameEvidence
GO:0004566beta-glucuronidase activityIEA
GO:0004871signal transducer activityTAS
GO:0005104fibroblast growth factor receptor bindingIEA
GO:0005179hormone activityIEA
GO:0005499vitamin D bindingIEA
GO:0008422beta-glucosidase activityTAS
GO:0017134fibroblast growth factor bindingIPI
GO:0043169cation bindingIEA
GeneCards KL
UniProt Q9UEF7
MIM 604824
Ensembl ENSG00000133116
HGNC 6344
HPRD 05316

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