FKBP14 recombinant protein

FKBP14 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121449

• Gene Names: FKBP14; EDSKMH; FKBP22; IPBP12
• Purity: >95% as determined by SDS-PAGE
• Synonyms: FKBP14; FKBP14 Protein; Human; Recombinant (His Tag); Human FKBP14 Protein (His Tag); EDSKMH Protein; FKBP22 Protein; IPBP12 Protein; FK506 binding protein 14; 22kDa; FKBP14 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Lys207

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Ala 20
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human FKBP14 (Q9NWM8)(Met1-Lys207) was expressed with a polyhistidine tag at the C-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for FKBP14 recombinant protein

Background: FKBP14 belongs to the FK506-binding protein family. It contains 2 EF-hand domains and one PPIase FKBP-type domain. FKBP14 can be detected in the lumen of the endoplasmic reticulum where it is thought to accelerate the folding of proteins during protein synthesis. 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. Defects in FKBP14 can cause Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 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.

References

Baker K, et al. (2003) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 13:2265-70.Ota T, et al. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 36:40-5.The MGC Project Team. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14:2121-7.

NCBI and Uniprot Product Information

• NCBI GI #: 23821568
• NCBI GeneID: 55033
• UniProt Accession #: Q9NWM8
• Molecular Weight: 24,172 Da
• NCBI Official Full Name: Peptidyl-prolyl cis-trans isomerase FKBP14
• NCBI Official 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
• Protein Family: Peptidyl-prolyl cis-trans isomerase
• UniProt Gene Name: FKBP14
• UniProt Synonym Gene Names: FKBP22; PPIase FKBP14; 22 kDa FKBP; FKBP-22; FKBP-14
• UniProt Entry Name: FKB14_HUMAN

NCBI Description

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 Description

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.

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

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; unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; unfolded protein response

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