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Human FKBP14 Recombinant Protein (RPPB1638)

SKU:
RPPB1638
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q9NWM8
Research Area:
Enzymes
$371
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Description

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Product Name:Human FKBP14 Recombinant Protein
Product Code:RPPB1638
Size:25µg
Species:Human
Target:FKBP14
Synonyms:FKBP22, FKBP-14, FK506 Binding Protein 14, FKBP14, EC=5.2.1.8, PPlase FKBP14, Peptidyl-prolyl cis-trans isomerase FKBP14, FLJ20731.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:FKBP14 Human (1mg/ml) solution containing 1x PBS pH-7.4, & 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MALIPEPEVK IEVLQKPFIC HRKTKGGDLM LVHYEGYLEK DGSLFHSTHK HNNGQPIWFT LGILEALKGW DQGLKGMCVG EKRKLIIPPA LGYGKEGKGK IPPESTLIFN IDLLEIRNGP RSHESFQEMD LNDDWKLSKD EVKAYLKKEF EKHGAVVNES HHDALVEDIF DKEDEDKDGF ISAREFTYKH DEL
Biological Activity:Specific activity is > 240 nmoles/min/mg, and is defined as the amount of enzyme that cleaves 1umole of suc-AAFP-pNA per minute at 25�C in Tris-HCl pH8.0 using chymotrypsin.

FKBP14 enzyme accelerates the folding of proteins during protein synthesis. FKBP14 contains 2 EF-hand domains and one PPIase FKBP-type domain. Truncation of the amino-terminus of FKBP14 significantly decreases peptidyl prolyl cis-trans isomerase activity, therefore implicating that the PPIase FKBP-type domain must be located at the N-terminus.

FKBP14 Recombinant E.coli produced in E.Coli is a single, non-glycosylated polypeptide chain containing 213 amino acids (20-211 a.a.) and having a molecular mass of 24.2 kDa. The FKBP14 is fused to 21 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.

UniProt Protein Function:FKBP14: PPIases accelerate the folding of proteins during protein synthesis. Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH). A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine.
UniProt Protein Details:

Protein type:Secreted; EC 5.2.1.8; Isomerase; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7p14.3

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen

Molecular Function:FK506 binding; peptidyl-prolyl cis-trans isomerase activity; calcium ion binding

Biological Process: protein peptidyl-prolyl isomerization; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; unfolded protein response

Disease: Ehlers-danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss

NCBI Summary:The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
UniProt Code:Q9NWM8
NCBI GenInfo Identifier:23821568
NCBI Gene ID:55033
NCBI Accession:Q9NWM8.1
UniProt Related Accession:Q9NWM8
Molecular Weight:24,172 Da
NCBI Full Name:Peptidyl-prolyl cis-trans isomerase FKBP14
NCBI Synonym Full Names:FK506 binding protein 14, 22 kDa
NCBI Official Symbol:FKBP14��
NCBI Official Synonym Symbols:EDSKMH; FKBP22; IPBP12��
NCBI Protein Information:peptidyl-prolyl cis-trans isomerase FKBP14; FKBP-22; rotamase; 22 kDa FKBP; PPIase FKBP14; FK506-binding protein 14; 22 kDa FK506-binding protein
UniProt Protein Name:Peptidyl-prolyl cis-trans isomerase FKBP14
UniProt Synonym Protein Names:22 kDa FK506-binding protein; 22 kDa FKBP; FKBP-22; FK506-binding protein 14; FKBP-14; Rotamase
UniProt Gene Name:FKBP14��
UniProt Entry Name:FKB14_HUMAN

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