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KL Gene

protein-coding   GIFtS: 67
GCID: GC13P033590

Klotho

  See KL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
klotho1 2
KLOTHO5
EC 3.2.1.313 8
EC 3.2.18

External Ids:    HGNC: 63441   Entrez Gene: 93652   Ensembl: ENSG000001331167   OMIM: 6048245   UniProtKB: Q9UEF73   

Export aliases for KL gene to outside databases

Previous GC identifers: GC13P031576 GC13P027577 GC13P032526 GC13P031388 GC13P032488 GC13P014401


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KL Gene:
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)

GeneCards Summary for KL Gene:
KL (klotho) is a protein-coding gene. Diseases associated with KL include tumoral calcinosis, hyperphosphatemic, and skin atrophy. GO annotations related to this gene include fibroblast growth factor receptor binding and signal transducer activity. An important paralog of this gene is KLB.

UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
Function: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active
site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be
involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D
(By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity)
Function: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating
hormone which would extend life span by inhibiting insulin/IGF1 signaling (By similarity)

Gene Wiki entry for KL (Klotho) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KL gene promoter:
         GR   PPAR-gamma1   p53   AP-1   GR-alpha   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKL promoter sequence
   Search Chromatin IP Primers for KL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q13.1   HGNC cytogenetic band: 13q12

KL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KL gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P033590:  view genomic region     (about GC identifiers)

Start:
33,590,207 bp from pter      End:
33,640,282 bp from pter
Size:
50,076 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7 (See protein sequence)
Recommended Name: Klotho precursor  
Size: 1012 amino acids; 116181 Da
Subunit: Homodimer (By similarity). Interacts with FGF23 and FGFR1 (By similarity)
Miscellaneous: Defects in KL may be a cause of chronic renal failure complications
Secondary accessions: Q5VZ95 Q96KV5 Q96KW5 Q9UEI9 Q9Y4F0
Alternative splicing: 2 isoforms:  Q9UEF7-1   Q9UEF7-2   (Predominates over the membrane form in all tissues examined)

Explore the universe of human proteins at neXtProt for KL: NX_Q9UEF7

Explore proteomics data for KL at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn106, Asn159, Asn283, Asn344, Asn607, Asn612, Asn694
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for KL (Q9UEF7) (see all 7)
     GLFYVDF  YRFSISW  VKYWITI  YGGWANRA 


    See KL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004786.2  
    ENSEMBL proteins: 
     ENSP00000369442   ENSP00000399513  
    Reactome Protein details: Q9UEF7

    KL Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for KL (Klotho)
    Enzo Life Sciences proteins for KL
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KL
    OriGene Custom MassSpec
    OriGene Custom Protein Services for KL
    GenScript Custom Purified and Recombinant Proteins Services for KL
    Novus Biologicals KL Proteins
    Novus Biologicals KL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for KL
    Cloud-Clone Corp. Proteins for KL

     
    Search eBioscience for Proteins for KL 

    KL Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KL
    R&D Systems Antibodies for KL (Klotho)
    OriGene Antibodies for KL
    OriGene Custom Antibody Services for KL
    Novus Biologicals KL Antibodies
    Abcam antibodies for KL
    Cloud-Clone Corp. Antibodies for KL
    ThermoFisher Antibodies for KL
    LSBio Antibodies in human, mouse, rat for KL

    KL Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KL
    R&D Systems ELISAs for KL (Klotho)
    GenScript Custom Assay Services for KL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KL
    Cloud-Clone Corp. CLIAs for KL
    Search eBioscience for ELISAs for KL 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR028546 Klotho
     IPR001360 Glyco_hydro_1
     IPR018120 Glyco_hydro_1_AS
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry Q9UEF7

    ProtoNet protein and cluster: Q9UEF7

    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
    Domain: Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site
    residue at position 239, and the second one lacks the essential Glu active site residue at position 872
    Similarity: Belongs to the glycosyl hydrolase 1 family. Klotho subfamily


    Find genes that share domains with KL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLOT_HUMAN, Q9UEF7
    Function: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active
    site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be
    involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D
    (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity)
    Function: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating
    hormone which would extend life span by inhibiting insulin/IGF1 signaling (By similarity)
    Catalytic activity: A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol

         Genatlas biochemistry entry for KL:
    murine klotho gene homolog,with two spliced variants one secreted predominantly over the membrane form

         Enzyme Numbers (IUBMB): EC 3.2.1.311 2 EC 3.2.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004566beta-glucuronidase activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005104fibroblast growth factor receptor binding IEA--
    GO:0005179hormone activity IEA--
         
    Find genes that share ontologies with KL           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Kl) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    Find genes that share phenotypes with KL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KL: Kltm1Yin Kltm1Lex Kltm1.2Tel

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KL

    miRNA
    Products:
        
    miRTarBase miRNAs that target KL:
    hsa-mir-335-5p (MIRT019099)

    Block miRNA regulation of human, mouse, rat KL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KL (see all 26):
    hsa-miR-10b hsa-miR-15a hsa-miR-944 hsa-miR-339-5p hsa-miR-633 hsa-miR-144 hsa-miR-424 hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidKL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KL
    Predesigned siRNA for gene silencing in human, mouse, rat KL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KL

    Clone
    Products:
         
    OriGene clones in human, mouse for KL (see all 7)
    OriGene ORF clones in mouse, rat for KL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): KL (NM_001648)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KL
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KL
    Addgene plasmids for KL 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KL
    Browse ESI BIO Cell Lines and PureStem Progenitors for KL 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KLOT_HUMAN, Q9UEF7: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Isoform 1 shedding leads
    to a soluble peptide
    KLOT_HUMAN, Q9UEF7: Isoform 2: Secreted
    KLOT_HUMAN, Q9UEF7: Klotho peptide: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    endoplasmic reticulum2
    golgi apparatus2
    cytoskeleton1
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS11792841
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9464267
    GO:0016021integral component of membrane TAS11792841

    Find genes that share ontologies with KL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KL About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1PI-3K cascade
    PI3K/AKT activation0.93
    PI3K/AKT Signaling in Cancer0.88
    GAB1 signalosome0.93
    PI3K events in ERBB4 signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    PIP3 activates AKT signaling0.88
    Signaling by SCF-KIT0.72
    2Signaling by FGFR
    Signaling by FGFR0.91
    DAP12 interactions0.89
    Signaling by FGFR in disease0.91
    Signaling by PDGF0.87
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR0.83
    Downstream signal transduction0.90
    Signaling by EGFR in Cancer0.82
    3Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    IRS-related events triggered by IGF1R0.92
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    PI3K Cascade0.87
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.80
    4FGFR ligand binding and activation
    FGFR ligand binding and activation0.79
    Negative regulation of FGFR signaling0.56
    SHC-mediated cascade0.79
    FGFR1c and Klotho ligand binding and activation0.00
    FRS2-mediated cascade0.70
    Klotho-mediated ligand binding0.00
    5Downstream Signaling Events Of B Cell Receptor (BCR)
    Downstream Signaling Events Of B Cell Receptor (BCR)0.79
    Signaling by the B Cell Receptor (BCR)0.79


    Find genes that share SuperPaths with KL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for KL (see all 9)
        PI3K Cascade
    Phospholipase C-mediated cascade
    FRS2-mediated cascade
    FGFR1c and Klotho ligand binding and activation
    Negative regulation of FGFR signaling


    4 Kegg Pathways  (Kegg details for KL):
        Pentose and glucuronate interconversions
    Starch and sucrose metabolism
    Metabolic pathways
    Endocrine and other factor-regulated calcium reabsorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KL
    Interactions:

        GeneGlobe Interaction Network for KL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KL (Q9UEF73 ENSP000003694424) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WNT1P046283, ENSP000002935494I2D: score=1 STRING: ENSP00000293549
    WNT4P567053, ENSP000002901674I2D: score=1 STRING: ENSP00000290167
    IGF1RP080693, ENSP000002680354I2D: score=1 STRING: ENSP00000268035
    ATP1A1P050233, ENSP000002955984I2D: score=1 STRING: ENSP00000295598
    WNT5AP412213, ENSP000002646344I2D: score=1 STRING: ENSP00000264634
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002526acute inflammatory response IEA--
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006112energy reserve metabolic process IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007568aging IMP11792841

    Find genes that share ontologies with KL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KL (KLOT)

    8 HMDB Compounds for KL    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    CalciumCa (see all 2)7440-70-2--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    Propyl alcohol1-Hydroxypropane (see all 17)71-23-8--

    2 Novoseek inferred chemical compound relationships for KL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 21.4 3 11342433 (2), 10880756 (1)
    tyrosine 2.42 1 10809354 (1)



    Find genes that share compounds with KL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KL gene (2 alternative transcripts): 
    NM_004795.3  NM_153683.2  

    Unigene Cluster for KL:

    Klotho
    Hs.524953  [show with all ESTs]
    Unigene Representative Sequence: NM_004795
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487852(uc001uur.1) ENST00000380099(uc001uus.3) ENST00000426690

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KL (see all 26):
    hsa-miR-10b hsa-miR-15a hsa-miR-944 hsa-miR-339-5p hsa-miR-633 hsa-miR-144 hsa-miR-424 hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidKL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KL
    Predesigned siRNA for gene silencing in human, mouse, rat KL
    Clone
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    OriGene ORF clones in mouse, rat for KL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): KL (NM_001648)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KL
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KL
    Addgene plasmids for KL 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KL
      QuantiTect SYBR Green Assays in human, mouse, rat KL
      QuantiFast Probe-based Assays in human, mouse, rat KL

    Additional mRNA sequence: 

    AB005142.1 AK097349.1 

    4 DOTS entries:

    DT.100743810  DT.414871  DT.99930290  DT.70101635 

    Selected AceView cDNA sequences (see all 71):

    AW772081 AI760193 AA410391 BE501757 AI025650 AW271203 AI640294 AA677655 
    AA913524 BF431196 NM_004795 AI474763 BE467029 BE221972 BF591980 AA885951 
    AW779558 AI628577 AB005142 AW615211 AA913087 AI261202 BF197501 NM_153683 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KL    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6
    SP1:        -                             -                     
    SP2:                                                            
    SP3:                                                            


    ECgene alternative splicing isoforms for KL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTTTCCCT
    KL Expression
    About this image


    KL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
    KL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524953

    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
    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 carcinomas, and in chronic renal failure kidney

        Custom PCR Arrays for KL
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for KL gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kl1 , 5 klotho1, 5 84.51(n)1
    86.93(a)1
      5 (89.77 cM)5
    165911  NM_013823.21  NP_038851.21 
     1509526075 
    chicken
    (Gallus gallus)
    Aves KL1 klotho 72.91(n)
    72.26(a)
      418909  XM_004938757.1  XP_004938814.1 
    lizard
    (Anolis carolinensis)
    Reptilia KL6
    klotho
    65(a)
    1 ↔ 1
    GL344040.1(74013-82736)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kl1 klotho 67.26(n)
    67.43(a)
      100490988  XM_002934021.2  XP_002934067.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kl1 klotho 58.2(n)
    53.52(a)
      562316  XM_685705.4  XP_690797.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97016
    --
    33(a)
    1 → many
    3L(16726646-16732464)
    worm
    (Caenorhabditis elegans)
    Secernentea C50F7.103 glycosyl hydrolase 31(a)
    (best of 2)
      IV(7746219-7748175)   --


    ENSEMBL Gene Tree for KL (if available)
    TreeFam Gene Tree for KL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KL gene
    KLB2  LCTL2  LCT2  GBA32  
    2 SIMAP similar genes for KL using alignment to 2 protein entries:     KLOT_HUMAN (see all proteins):
    KLB    LCT

    Find genes that share paralogs with KL           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    KLOT_HUMAN, Q9UEF7: Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular
    disease risk


    Selected SNPs for KL (see all 1212)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364494
    A colorectal cancer sample4--see VAR_0364492 P L mis40--------
    VAR_0645544
    Tumoral calcinosis, hyperphosphatemic, familial (HFTC)4--see VAR_0645542 H R mis40--------
    rs2001126611,2
    Cuntested114577397(+) GTTCCA/GCCAAT 2 H R mis10--------
    rs362172631,2
    C--14400926(+) CAAAG-/ATAGAG 1 -- us2k10--------
    rs1403263881,2
    --14537824(+) GAATAC/TTTAGC 1 -- us2k10--------
    rs1441863631,2
    --14537992(+) GTTGTG/TTGCTG 1 -- us2k10--------
    rs1930381071,2
    --14538062(+) TAAATA/GCTATA 1 -- us2k10--------
    rs20404141,2
    C,F,O,A,H--14538087(+) AGTAAC/GTCTGT 1 -- us2k18Minor allele frequency- G:0.07NS EA NA CSA WA 542
    rs782828831,2
    F--14538205(+) TAATAA/GAAGCA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1851988651,2
    --14538251(+) AAATTC/TGTATT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KL (33590207 - 33640282 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KL: --
    Human Gene Mutation Database (HGMD): KL
    Locus Specific Mutation Databases (LSDB): KL

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KL
    DNA2.0 Custom Variant and Variant Library Synthesis for KL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604824   
    OMIM disorders: 211900  
    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
  • Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that
    manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients
    manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of
    periosteal reaction and cortical hyperostosis and absence of skin involvement. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 14 diseases for KL:    
    About MalaCards
    tumoral calcinosis, hyperphosphatemic    skin atrophy    arteriosclerosis    hyperphosphatemic familial tumoral calcinosis, kl-related
    priapism    hypophosphatemic rickets and hyperparathyroidism    coronary artery disease    hyperphosphatemic familial tumoral calcinosis
    spondylosis    calcinosis    familial tumoral calcinosis    hypervitaminosis d
    x-linked hypophosphatemia    osteoporosis

    11 diseases from the University of Copenhagen DISEASES database for KL:
    Hyperphosphatemia     Hypophosphatemia     Skin atrophy     Hypervitaminosis D
    Kidney disease     X-linked hypophosphatemia     Pulmonary emphysema     Calcinosis
    Hyperparathyroidism     Osteomalacia     Osteoporosis

    Find genes that share disorders with KL           About GenesLikeMe

    1 Novoseek inferred disease relationship for KL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 10809354 (1)

    Genetic Association Database (GAD): KL
    Human Genome Epidemiology (HuGE) Navigator: KL (602 documents)

    Export disorders for KL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for KL gene, integrated from 10 sources (see all 186):
    (articles sorted by number of sources associating them with KL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association between a functional variant of the KLOTHO gene and high- density lipoprotein cholesterol, blood pressure, stroke, and longevity. (PubMed id 15677572)1, 2, 4 Arking D.E.... Dietz H.C. (Circ. Res. 2005)
    2. Association of human aging with a functional variant of klotho. (PubMed id 11792841)1, 2, 4 Arking D.E.... Dietz H.C. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. (PubMed id 9464267)1, 2, 3 Matsumura Y....Nabeshima Y. (Biochem. Biophys. Res. Commun. 1998)
    4. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. (PubMed id 17710231)1, 2, 9 Ichikawa S.... Econs M.J. (J. Clin. Invest. 2007)
    5. Klotho gene polymorphisms are associated with osteocalcin levels but not bone density of aged postmenopausal women. (PubMed id 16151675)1, 4, 9 Mullin B.H....Prince R.L. (Calcif. Tissue Int. 2005)
    6. A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population. (PubMed id 20005218)1, 4 Wang H.L....Xiao H. ( international journal of clinical chemistry 2010)
    7. Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin. (PubMed id 19802015)1, 4 Wolf I....Kaufman B. (Oncogene 2010)
    8. The frequency of Klotho KL-VS polymorphism in a large Italian population, from young subjects to centenarians, suggests the presence of specific time windows for its effect. (PubMed id 19421891)1, 4 Invidia L....Franceschi C. (Biogerontology 2010)
    9. Association of carotid atherosclerosis with genetic polymorphisms of the klotho gene in patients with hypertension. (PubMed id 20345435)1, 4 Oguro R....Rakugi H. (amp 2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 9365 HGNC: 6344 AceView: KL Ensembl:ENSG00000133116 euGenes: HUgn9365
    ECgene: KL Kegg: 9365 H-InvDB: KL

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KL Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/065

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KL gene:
    Search GeneIP for patents involving KL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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