Gene Gene information from NCBI Gene database.
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
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
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
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.
34
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.
MIM HGNC e!Ensembl
604824 6344 ENSG00000133116
Protein Protein information from UniProt database.
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
KGTADFFALCFGPTLSF
QLLDPHMKFRQLESPNLRQLLSWIDLEFNHPQIFIVENGWFVS
GTTKRDDAKYMYYLKKFIMETLKAIKLDGVDVIGYTAWSLMDGFEWHRGYSIRRGLFYVD
FLSQDKMLLPKSSALFYQKLIEKNGF
PPLPENQPLEGTFPCDFAWGVVDNYIQVDTTLSQ
FTDLNVYLWDVHHSKRLIKVDGVVTKKRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWA
LILPLGNQSQVNHTILQYYRCMASELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENP
YTALAFAEYARLCFQELGHHVKLWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRH
AQNGKISIALQADWIEPACPFSQKDKEVAERVLEFDIGWLAEPIFGSGDYPWVMRDWLNQ
RNNFLLPYFTEDEKKLIQGTFDFLALSHYTTILVDSEKEDPIKYNDYLEVQEMTDITWLN
SPSQVAVVPWGLRKVLNWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALK
AHILDGINLCGYFAYSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGF
PGPETLE
RFCPEEFTVCTECSFFHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK
Sequence length 1012
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amenorrhea Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL EMBOLISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 22452701 Associate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 23648743, 30818110
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31312351, 31737221
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26209729
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 21571866
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18682507, 24939736
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28153033
★☆☆☆☆
Found in Text Mining only
Adult Learning Disorders Learning Disorders CTD_human_DG 25309793
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 25309793, 25550330
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24211693, 27714549, 29352444, 30867273, 31745181, 32347987, 33427737, 34697589, 35617280, 36314202, 36413367, 37107675 Associate
★☆☆☆☆
Found in Text Mining only