Klotho Active Protein | KL active protein
Human Klotho
NCBI and Uniprot Product Information
NCBI Description
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 (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Uniprot Description
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 calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D
By similarity. Essential factor for the specific interaction between FGF23 and FGFR1
By similarity.The Klotho peptide generated by cleavage of the membrane-bound isoform maybe an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling
By similarity.
Catalytic activity: A beta-D-glucuronoside + H2O = D-glucuronate + an alcohol.
Subunit structure: Homodimer
By similarity. Interacts with FGF23 and FGFR1
By similarity.
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note: Isoform 1 shedding leads to a soluble peptide. Ref.4 Ref.7Isoform 2: Secreted Ref.4 Ref.7. Klotho peptide: Secreted Ref.4 Ref.7.
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 carcinomas, and in chronic renal failure kidney. Ref.2 Ref.4 Ref.5 Ref.6 Ref.7
Domain: Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 239, and the second one lacks the essential Glu active site residue at position 872.
Post-translational modification: N-glycosylated
By similarity.
Polymorphism: Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular disease risk.
Involvement in disease: Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11
Miscellaneous: Defects in KL may be a cause of chronic renal failure complications.
Sequence similarities: Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
Research Articles on KL
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Product Notes
The KL kl (Catalog #AAA691589) is an Active Protein produced from CHO Cells and is intended for research purposes only. The product is available for immediate purchase. The Human Klotho reacts with Human and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: EPGDGAQTWA RFSRPPAPEA AGLFQGTFPD GFLWAVGSAA YQTEGG WQQH GKGASIWDTF THHPLAPPGD SRNASLPLGA PSPLQPATGD V ASDSYNNVF RDTEALRELG VTHYRFSISW ARVLPNGSAG VPNREGL RYY RRLLERLREL GVQPVVTLYH WDLPQRLQDA YGGWANRALA DH FRDYAELC FRHFGGQVKY WITIDNPYVV AWHGYATGRL APGIRGSP RL GYLVAHNLLL AHAKVWHLYN TSFRPTQGGQ VSIALSSHWI NPR RMTDHSI KECQKSLDFV LGWFAKPVFI DGDYPESMKN NLSSILPDF T ESEKKFIKGT ADFFALCFGP TLSFQLLDPH MKFRQLESPN LRQL LSWIDL EFNHPQIFIV ENGWFVSGTT KRDDAKYMYY LKKFIMETLK AIKLDGVDVI GYTAWSLMDG FEWHRGYSIR RGLFYVDFLS QDKML LPKSS ALFYQKLIEK NGFPPLPENQ PLEGTFPCDF AWGVVDNYIQ VSQLTKPISS LTKPYH. It is sometimes possible for the material contained within the vial of "Klotho, Active Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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