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 zebrafish

Gene Tree: Kl

Human homologs

Human Homolog		KL, klotho
NCBI Gene ID		9365
neXtProt AC		NX_Q9UEF7
Human Chr (Location)		13q12; chr13:33590571-33640282 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human KL

Alleles and phenotypes

All alleles(5) : Targeted(3) Gene trapped(1) Transgenic(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (25 annotations)

Process	acute inflammatory response, aging, ...
Component	extracellular region, integral to membrane, ...
Function	beta-glucuronidase activity, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(28)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(32) Genomic(4) cDNA(28)
Microarray probesets(4)

Other database links

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 Knockout Project Status	Kl

Sequences

Length	Strain/Species
genomic	ENSMUSG00000058488	Ensembl Gene Model | MGI Sequence Detail	41203	C57BL/6J
transcript	ENSMUST00000078856	Ensembl | MGI Sequence Detail	5110	Not Applicable
polypeptide	ENSMUSP00000077899	Ensembl | MGI Sequence Detail	1014	Not Applicable

All sequences(18) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(115 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194497 Voelkl J, et al., Spironolactone ameliorates PIT1-dependent vascular osteoinduction in klotho-hypomorphic mice. J Clin Invest. 2013 Jan 9;
All references(116)