Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KL (klotho)

Identity

Other names-
HGNC (Hugo) KL
LocusID (NCBI) 9365
Location 13q13.1
Location_base_pair Starts at 33590571 and ends at 33640282 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)KL   6344
Cards
Entrez_Gene (NCBI)KL  9365  klotho
GeneCards (Weizmann)KL
Ensembl (Hinxton)ENSG00000133116 [Gene_View]  chr13:33590571-33640282 [Contig_View]  KL [Vega]
ICGC DataPortalENSG00000133116
cBioPortalKL
AceView (NCBI)KL
Genatlas (Paris)KL
WikiGenes9365
SOURCE (Princeton)NM_004795 NM_153683
Genomic and cartography
GoldenPath (UCSC)KL  -  13q13.1   chr13:33590571-33640282 +  13q13.1   [Description]    (hg19-Feb_2009)
EnsemblKL - 13q13.1 [CytoView]
Mapping of homologs : NCBIKL [Mapview]
OMIM604824   
Gene and transcription
Genbank (Entrez)AA890465 AB005142 AK097349 CB988086
RefSeq transcript (Entrez)NM_004795 NM_153683
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_011485 NT_024524 NW_001838072 NW_004929388
Consensus coding sequences : CCDS (NCBI)KL
Cluster EST : UnigeneHs.524953 [ NCBI ]
CGAP (NCI)Hs.524953
Alternative Splicing : Fast-db (Paris)GSHG0008038
Alternative Splicing GalleryENSG00000133116
Gene ExpressionKL [ NCBI-GEO ]     KL [ SEEK ]   KL [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UEF7 (Uniprot)
NextProtQ9UEF7  [Medical]
With graphics : InterProQ9UEF7
Splice isoforms : SwissVarQ9UEF7 (Swissvar)
Catalytic activity : Enzyme3.2.1.31 [ Enzyme-Expasy ]   3.2.1.313.2.1.31 [ IntEnz-EBI ]   3.2.1.31 [ BRENDA ]   3.2.1.31 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F1_2 (PS00653)   
Domains : Interpro (EBI)Glyco_hydro_1 [organisation]   Glyco_hydro_1_AS [organisation]   Glyco_hydro_catalytic_dom [organisation]   Glycoside_hydrolase_SF [organisation]   Klotho [organisation]  
Related proteins : CluSTrQ9UEF7
Domain families : Pfam (Sanger)Glyco_hydro_1 (PF00232)   
Domain families : Pfam (NCBI)pfam00232   
DMDM Disease mutations9365
Blocks (Seattle)Q9UEF7
Human Protein AtlasENSG00000133116 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UEF7
HPRD05316
IPIIPI00295265   IPI00170818   IPI01009167   
Protein Interaction databases
DIP (DOE-UCLA)Q9UEF7
IntAct (EBI)Q9UEF7
FunCoupENSG00000133116
BioGRIDKL
InParanoidQ9UEF7
Interologous Interaction database Q9UEF7
IntegromeDBKL
STRING (EMBL)KL
Ontologies - Pathways
Ontology : AmiGOacute inflammatory response  beta-glucuronidase activity  signal transducer activity  fibroblast growth factor receptor binding  hormone activity  vitamin D binding  extracellular region  extracellular space  extracellular space  plasma membrane  integral component of plasma membrane  carbohydrate metabolic process  energy reserve metabolic process  epidermal growth factor receptor signaling pathway  aging  insulin receptor signaling pathway  beta-glucosidase activity  fibroblast growth factor receptor signaling pathway  integral component of membrane  fibroblast growth factor binding  positive regulation of bone mineralization  Fc-epsilon receptor signaling pathway  innate immune response  neurotrophin TRK receptor signaling pathway  phosphatidylinositol-mediated signaling  calcium ion homeostasis  extracellular vesicular exosome  positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway  
Ontology : EGO-EBIacute inflammatory response  beta-glucuronidase activity  signal transducer activity  fibroblast growth factor receptor binding  hormone activity  vitamin D binding  extracellular region  extracellular space  extracellular space  plasma membrane  integral component of plasma membrane  carbohydrate metabolic process  energy reserve metabolic process  epidermal growth factor receptor signaling pathway  aging  insulin receptor signaling pathway  beta-glucosidase activity  fibroblast growth factor receptor signaling pathway  integral component of membrane  fibroblast growth factor binding  positive regulation of bone mineralization  Fc-epsilon receptor signaling pathway  innate immune response  neurotrophin TRK receptor signaling pathway  phosphatidylinositol-mediated signaling  calcium ion homeostasis  extracellular vesicular exosome  positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway  
Pathways : KEGGPentose and glucuronate interconversions    Starch and sucrose metabolism    Endocrine and other factor-regulated calcium reabsorption   
Protein Interaction DatabaseKL
Wikipedia pathwaysKL
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KL
snp3D : Map Gene to Disease9365
SNP (GeneSNP Utah)KL
SNP : HGBaseKL
Genetic variants : HAPMAPKL
Exome VariantKL
1000_GenomesKL 
ICGC programENSG00000133116 
Somatic Mutations in Cancer : COSMICKL 
CONAN: Copy Number AnalysisKL 
Mutations and Diseases : HGMDKL
Mutations and Diseases : intOGenKL
Genomic VariantsKL  KL [DGVbeta]
dbVarKL
ClinVarKL
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM604824   
MedgenKL
GENETestsKL
Disease Genetic AssociationKL
Huge Navigator KL [HugePedia]  KL [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneKL
Homology/Alignments : Family Browser (UCSC)KL
Phylogenetic Trees/Animal Genes : TreeFamKL
Chemical/Protein Interactions : CTD9365
Chemical/Pharm GKB GenePA30130
Clinical trialKL
Cancer Resource (Charite)ENSG00000133116
Other databases
Probes
Litterature
PubMed177 Pubmed reference(s) in Entrez
CoreMineKL
iHOPKL
OncoSearchKL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:58:35 CEST 2014

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.