KL
entrez
9365
canonical
uniprot
Q9UEF7
canonical
ensembl
ENSG00000133116
resolver
ensp
ENSP00000369442
resolver
ensp
ENSP00000789285
resolver
genesymbol
KL
resolver
hgnc
HGNC:6344
resolver
uniprot
Q5VZ95
resolver
uniprot
Q96KV5
resolver
uniprot
Q96KW5
resolver
uniprot
Q9UEI9
resolver
uniprot
Q9Y4F0
resolver
uniprot_entry
KLOT_HUMAN
resolver
uniprot_sec
Q5VZ95
resolver
uniprot_sec
Q96KV5
resolver
uniprot_sec
Q96KW5
resolver
uniprot_sec
Q9UEI9
resolver
uniprot_sec
Q9Y4F0
resolver
amino_acid_sequence
MPASAPPRRPRPPPPSLSLLLVLLGLGGRRLRAEPGDGAQTWARFSRPPAPEAAGLFQGTFPDGFLWAVGSAAYQTEGGWQQHGKGASIWDTFTHHPLAPPGDSRNASLPLGAPSPLQPATGDVASDSYNNVFRDTEALRELGVTHYRFSISWARVLPNGSAGVPNREGLRYYRRLLERLRELGVQPVVTLYHWDLPQRLQDAYGGWANRALADHFRDYAELCFRHFGGQVKYWITIDNPYVVAWHGYATGRLAPGIRGSPRLGYLVAHNLLLAHAKVWHLYNTSFRPTQGGQVSIALSSHWINPRRMTDHSIKECQKSLDFVLGWFAKPVFIDGDYPESMKNNLSSILPDFTESEKKFIKGTADFFALCFGPTLSFQLLDPHMKFRQLESPNLRQLLSWIDLEFNHPQIFIVENGWFVSGTTKRDDAKYMYYLKKFIMETLKAIKLDGVDVIGYTAWSLMDGFEWHRGYSIRRGLFYVDFLSQDKMLLPKSSALFYQKLIEKNGFPPLPENQPLEGTFPCDFAWGVVDNYIQVDTTLSQFTDLNVYLWDVHHSKRLIKVDGVVTKKRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWALILPLGNQSQVNHTILQYYRCMASELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENPYTALAFAEYARLCFQELGHHVKLWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRHAQNGKISIALQADWIEPACPFSQKDKEVAERVLEFDIGWLAEPIFGSGDYPWVMRDWLNQRNNFLLPYFTEDEKKLIQGTFDFLALSHYTTILVDSEKEDPIKYNDYLEVQEMTDITWLNSPSQVAVVPWGLRKVLNWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALKAHILDGINLCGYFAYSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGFPGPETLERFCPEEFTVCTECSFFHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK
uniprot
proteins
disease_involvement
DISEASE: Tumoral calcinosis, hyperphosphatemic, familial, 3 (HFTC3) [MIM:617994]: A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269|PubMed:17710231}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.31
uniprot
proteins
function
FUNCTION: Exhibits beta-glucuronidase activity in vitro despite lacking canonical catalytic Glu residues of glycosyl hydrolase 1 family enzymes (By similarity). Hydrolyzes steroid beta-D-glucuronides including estradiol-3-beta-D-glucuronide, estrone-3-beta-D-glucuronide and estriol-3-beta-D-glucuronide (By similarity). Essential for the interaction between FGF23 and FGFR1 and for FGF23-mediated regulation of renal vitamin D and phosphate homeostasis (By similarity). {ECO:0000250|UniProtKB:O35082}.; FUNCTION: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling. {ECO:0000250|UniProtKB:O35082}.
uniprot
proteins
mass_dalton
116181
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:O35082}.; PTM: Proteolytic cleavage of the membrane-bound form releases a soluble extracellular domain, also referred to as the Klotho peptide. {ECO:0000250|UniProtKB:O35082}.
uniprot
proteins
protein_family
Glycosyl hydrolase 1 family
uniprot
proteins
protein_family
Klotho subfamily
uniprot
proteins
pubmed
10631108
uniprot
proteins
pubmed
11043382
uniprot
proteins
pubmed
11162628
uniprot
proteins
pubmed
11792841
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15135068
uniprot
proteins
pubmed
15677572
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17710231
uniprot
proteins
pubmed
9363890
uniprot
proteins
pubmed
9464267
uniprot
proteins
sequence_length
1012
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:10631108, ECO:0000269|PubMed:15135068}; Single-pass type I membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000250|UniProtKB:O35082}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:O35082}. Note=Isoform 1 shedding leads to a soluble peptide. {ECO:0000250|UniProtKB:O35082}.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000269|PubMed:10631108, ECO:0000269|PubMed:15135068}.; SUBCELLULAR LOCATION: [Klotho peptide]: Secreted {ECO:0000250|UniProtKB:O35082}.
uniprot
proteins
transmembrane_region
TRANSMEM 982..1002; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins