KL (klotho)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9365
Gene name Klotho
Gene symbol KL
Synonyms (NCBI Gene)
HFTC3KLA
Chromosome 13
Chromosome location 13q13.1
Summary 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 (
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs121908423 A>G Likely-pathogenic, pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
36
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT019099 hsa-miR-335-5p Microarray 18185580
MIRT053233 hsa-miR-199a-5p SGC-7901 24655788
MIRT053233 hsa-miR-199a-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 24655788
MIRT053233 hsa-miR-199a-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 24655788
MIRT445349 hsa-miR-3163 PAR-CLIP 22100165
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HMGA1 Activation 15378028
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003085 Process Negative regulation of systemic arterial blood pressure IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0004566 Function Beta-glucuronidase activity IEA
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005104 Function Fibroblast growth factor receptor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604824 6344 ENSG00000133116
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UEF7
Protein name Klotho (EC 3.2.1.31) [Cleaved into: Klotho peptide]
Protein 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 calci
PDB 5W21 , 7YSH , 7YSU , 7YSW , 8TOH , 8UF8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00232 Glyco_hydro_1 57 → 381 Glycosyl hydrolase family 1 Domain
PF00232 Glyco_hydro_1 378 → 506 Glycosyl hydrolase family 1 Domain
PF00232 Glyco_hydro_1 515 → 953 Glycosyl hydrolase family 1 Domain
Tissue specificity 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 car
Sequence 
MPASAPPRRPRPPPPSLSLLLVLLGLGGRRLRAEPGDGAQTWARFSRPPAPEAAGLFQGT
FPDGFLWAVGSAAYQTEGGWQQHGKGASIWDTFTHHPLAPPGDSRNASLPLGAPSPLQPA
TGDVASDSYNNVFRDTEALRELGVTHYRFSISWARVLPNGSAGVPNREGLRYYRRLLERL
RELGVQPVVTLYHWDLPQRLQDAYGGWANRALADHFRDYAELCFRHFGGQVKYWITIDNP
YVVAWHGYATGRLAPGIRGSPRLGYLVAHNLLLAHAKVWHLYNTSFRPTQGGQVSIALSS
HWINPRRMTDHSIKECQKSLDFVLGWFAKPVFIDGDYPESMKNNLSSILPDFTESEKKFI
KGTADFFALCFGPTLSFQLLDPHMKFRQLESPNLRQLLSWIDLEFNHPQIFIVENGWFVS
GTTKRDDAKYMYYLKKFIMETLKAIKLDGVDVIGYTAWSLMDGFEWHRGYSIRRGLFYVD
FLSQDKMLLPKSSALFYQKLIEKNGFPPLPENQPLEGTFPCDFAWGVVDNYIQVDTTLSQ
FTDLNVYLWDVHHSKRLIKVDGVVTKKRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWA
LILPLGNQSQVNHTILQYYRCMASELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENP
YTALAFAEYARLCFQELGHHVKLWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRH
AQNGKISIALQADWIEPACPFSQKDKEVAERVLEFDIGWLAEPIFGSGDYPWVMRDWLNQ
RNNFLLPYFTEDEKKLIQGTFDFLALSHYTTILVDSEKEDPIKYNDYLEVQEMTDITWLN
SPSQVAVVPWGLRKVLNWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALK
AHILDGINLCGYFAYSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGFPGPETLE
RFCPEEFTVCTECSFFHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK
Sequence length 1012
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Metabolic pathways
Longevity regulating pathway
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption 		  PI3K Cascade
PIP3 activates AKT signaling
FGFR1c and Klotho ligand binding and activation
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
Negative regulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Uncertain significance rs373177691, rs1167677876 RCV001849759
RCV001849760
Colorectal cancer Benign rs9527025 RCV005893222
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome Uncertain significance rs886050122 RCV000389314
Hepatocellular carcinoma Benign rs35328951 RCV005893223
Show/Hide Text Mining Associations (174)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30867273, 35617280, 36413367
Acromegaly Associate 22452701
ACTH Secreting Pituitary Adenoma Associate 23648743
Acute Kidney Injury Associate 26161015, 29046474
Acute Lung Injury Inhibit 37929344
Adenocarcinoma of Lung Associate 26069186, 39287231
Aging Premature Associate 20482749, 23516476, 30393845
Albuminuria Associate 36942605
Alzheimer Disease Associate 24211693, 27714549, 29352444, 30867273, 31745181, 32347987, 33427737, 34697589, 35617280, 36314202, 36413367, 37107675
Alzheimer Disease Inhibit 32282020, 34158479, 40112321