Human FKBP14 Recombinant Protein (RPPB1638)
- SKU:
- RPPB1638
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q9NWM8
- Research Area:
- Enzymes
Description
| 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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