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Kl
Gene Detail
Symbol

Name
ID
Kl
klotho
MGI:1101771
Synonyms
alpha-kl
Feature Type
protein coding gene
Genetic Map
Chromosome 5
89.77 cM, cytoband G3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:150952607-150993809 bp, + strand
From Ensembl annotation of GRCm38

  41203 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68415  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Kl

Human
homologs
Human Homolog KL, klotho
NCBI Gene ID 9365
neXtProt AC  NX_Q9UEF7
Human Chr (Location)  13q12; chr13:33016063-33066145 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human KL
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(7) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen.
 
Human Diseases Modeled Using Mouse Kl (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Kl interacts with 244 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process acute inflammatory response, aging, ...
Component extracellular region, extracellular space, ...
Function beta-glucuronidase activity, fibroblast growth factor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(28)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(32) Genomic(4) cDNA(28)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000058488 (Evidence)
Entrez Gene16591 (Evidence)
UniGene6500
DFCITC1582269
DoTSDT.103560135, DT.60117974
NIA Mouse Gene IndexU006496
EC3.2.1.31
Consensus CDS ProjectCCDS19889.1
International Mouse Knockout Project StatusKl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000058488 Ensembl Gene Model | MGI Sequence Detail 41203 C57BL/6J ±  kb
transcript ENSMUST00000078856 Ensembl | MGI Sequence Detail 5110 Not Applicable 
polypeptide ENSMUSP00000077899 Ensembl | MGI Sequence Detail 1014 Not Applicable 

For the selected sequences
All sequences(23) RefSeq(6) UniProt(3)
Polymorphisms
SNPs within 2kb(152 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR001360 Glycoside hydrolase, family 1
InterPro IPR018120 Glycoside hydrolase, family 1, active site
InterPro IPR017853 Glycoside hydrolase, superfamily
Protein Ontology PR:000009347 klotho
References
(Earliest) J:44109 Kuro-o M, et al., Mutation of the mouse klotho gene leads to a syndrome resembling ageing [see comments]. Nature. 1997 Nov 6;390(6655):45-51
(Latest) J:212042 Borst O, et al., 1,25(OH)2 vitamin D3-dependent inhibition of platelet Ca2+ signaling and thrombus formation in klotho-deficient mice. FASEB J. 2014 May;28(5):2108-19
All references(132)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory