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KL klotho [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004795 Homo sapiens klotho (KL), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006719895 PREDICTED: Homo sapiens klotho (KL), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

Gene Symbol KL
Entrez Gene ID 9365
Full Name klotho
Synonyms
General protein information
Preferred Names
klotho
Names
klotho
NP_004786.2
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, Jul 2008].
Disorder

MIM: 604824

{Coronary artery disease, susceptibility to} (3); Tumoral calcinosis,

mRNA Protein Product Sequence Price Select
NM_004795, 209529721 NP_004786, 24497614 klotho precursor ORF Sequence $1500.00
XM_006719895, 578825085 XP_006719958, 578825086 klotho isoform X1 ORF Sequence $700.00
KEGG
hsa00040Pentose and glucuronate interconversions
hsa00500Starch and sucrose metabolism
hsa04961Endocrine and other factor-regulated calcium reabsorption
Reactome
REACT_12578GAB1 signalosome
REACT_9417Signaling by EGFR
REACT_9396FGFR ligand binding and activation
REACT_9470Signaling by FGFR
REACT_16888Signaling by PDGF
REACT_6802Innate Immune System
REACT_6900Immune System
REACT_17025Downstream signal transduction
REACT_9484FGFR1c and Klotho ligand binding and activation
REACT_976PI3K Cascade
REACT_762IRS-related events
REACT_1195Insulin receptor signalling cascade
REACT_498Signaling by Insulin receptor
REACT_332IRS-mediated signalling
REACT_12056NGF signalling via TRKA from the plasma membrane
REACT_11061Signalling by NGF
REACT_12464PI3K/AKT activation
REACT_21272Downstream signaling of activated FGFR
REACT_21310Phospholipase C-mediated cascade
REACT_21270PI-3K cascade
REACT_21247FRS2-mediated cascade
REACT_21374SHC-mediated cascade
REACT_75774Adaptive Immune System
REACT_75829PIP3 activates AKT signaling
REACT_111247Klotho-mediated ligand binding
REACT_111184Negative regulation of FGFR signaling
REACT_111040Signaling by SCF-KIT
REACT_111102Signal Transduction
REACT_147723PI3K/AKT Signaling in Cancer
REACT_147694DAP12 interactions
REACT_147727Constitutive PI3K/AKT Signaling in Cancer
REACT_147814DAP12 signaling
REACT_115755Signaling by ERBB2
REACT_116125Disease
REACT_115871Signaling by EGFR in Cancer
REACT_115596Signaling by ERBB4
REACT_115961PI3K events in ERBB4 signaling
REACT_116008PI3K events in ERBB2 signaling
REACT_118638Downstream signaling events of B Cell Receptor (BCR)
REACT_118773Signaling by the B Cell Receptor (BCR)
REACT_120736Signaling by FGFR in disease
REACT_163936Fc epsilon receptor (FCERI) signaling
REACT_163769Role of LAT2/NTAL/LAB on calcium mobilization
REACT_150359Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
REACT_150203IRS-related events triggered by IGF1R
REACT_150210IGF1R signaling cascade
Homo sapiens (human)KLNP_004786.2
Pan troglodytes (chimpanzee)KLXP_522655.2
Macaca mulatta (Rhesus monkey)LOC714042XP_001101127.1
Canis lupus familiaris (dog)KLXP_003433357.1
Bos taurus (cattle)KLNP_001178124.1
Mus musculus (house mouse)KlNP_038851.2
Rattus norvegicus (Norway rat)KlNP_112626.1
Gallus gallus (chicken)KLXP_004938814.1
Danio rerio (zebrafish)klXP_690797.4
Xenopus (Silurana) tropicalis (western clawed frog)klXP_002934067.1
Process
IDNameEvidence
GO:0002526acute inflammatory responseIEA
GO:0005975carbohydrate metabolic processIEA
GO:0006112energy reserve metabolic processIEA
GO:0007173epidermal growth factor receptor signaling pathwayTAS
GO:0007568agingIMP
GO:0008286insulin receptor signaling pathwayTAS
GO:0008543fibroblast growth factor receptor signaling pathwayTAS
GO:0030501positive regulation of bone mineralizationIMP
GO:0038095Fc-epsilon receptor signaling pathwayTAS
GO:0045087innate immune responseTAS
GO:0048011neurotrophin TRK receptor signaling pathwayTAS
GO:0048015phosphatidylinositol-mediated signalingTAS
GO:0055074calcium ion homeostasisIEA
GO:0090080positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceIEA
GO:0005615extracellular spaceTAS
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0016021integral component of membraneTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004566beta-glucuronidase activityIEA
GO:0004871signal transducer activityIEA
GO:0005104fibroblast growth factor receptor bindingIEA
GO:0005179hormone activityIEA
GO:0005499vitamin D bindingIEA
GO:0008422beta-glucosidase activityTAS
GO:0017134fibroblast growth factor bindingIPI
GeneCards KL
UniProt Q9UEF7
Vega OTTHUMG00000017408
MIM 604824
Ensembl ENSG00000133116
HGNC 6344
HPRD 05316

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the KL gene?

The KL gene provides instructions for making the protein alpha-klotho, which is found primarily in kidney cells. This protein plays a major role in regulating the phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally rid the body of excess phosphate by excreting it in urine, and they reabsorb this mineral into the bloodstream when more is needed.

Alpha-klotho attaches (binds) to and turns on (activates) a protein called FGF receptor 1 that spans the membrane of many types of cells, including kidney cells. Once the receptor is active, another protein called fibroblast growth factor 23 can also bind to it. Binding of fibroblast growth factor 23 to its receptor stimulates signaling that stops phosphate reabsorption into the bloodstream.

Interactant

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