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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
Chr5:150952607-150993817 bp, + strand
From VEGA annotation of GRCm38

  41211 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

HCOP human homology predictions: KL
Gene Tree: Kl

Human
homologs
KL, klotho
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 9365
neXtProt AC: NX_Q9UEF7

Human Chr (Location): 13q12; chr13:33016063-33066145 (+)  GRCh38.p2

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 in Mice Using Kl (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Kl interacts with 243 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process acute inflammatory response, aging, ...
Component extracellular exosome, extracellular region, ...
Function beta-glucuronidase activity, fibroblast growth factor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(28)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN kl    NEW 
Molecular
reagents
All nucleic(32) Genomic(4) cDNA(28)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000055554 (Evidence)
Ensembl Gene Model ENSMUSG00000058488 (Evidence)
Entrez Gene 16591 (Evidence)
UniGene 6500
DFCI TC1582269
DoTS DT.103560135, DT.60117974
NIA Mouse Gene Index U006496
EC 3.2.1.31
Consensus CDS Project CCDS19889.1
International Mouse Phenotyping Consortium Status Kl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055554 VEGA Gene Model | MGI Sequence Detail 41211 C57BL/6J ±  kb
transcript OTTMUST00000137495 VEGA | MGI Sequence Detail 5118 Not Applicable 
polypeptide OTTMUSP00000072401 VEGA | MGI Sequence Detail 1014 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(6) UniProt(2)
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
InterPro IPR028546 Klotho
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:222072 Ravikumar P, et al., alpha-Klotho protects against oxidative damage in pulmonary epithelia. Am J Physiol Lung Cell Mol Physiol. 2014 Oct 1;307(7):L566-75
All references(139)
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
08/25/2015
MGI 6.0
The Jackson Laboratory