ID:FKB14_HUMAN DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP14; Short=PPIase FKBP14; EC=5.2.1.8; AltName: Full=22 kDa FK506-binding protein; Short=22 kDa FKBP; Short=FKBP-22; AltName: Full=FK506-binding protein 14; Short=FKBP-14; AltName: Full=Rotamase; Flags: Precursor; FUNCTION: PPIases accelerate the folding of proteins during protein synthesis. CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0). SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. DISEASE: Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. 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. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 1 PPIase FKBP-type domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NWM8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000413 protein peptidyl-prolyl isomerization GO:0036498 IRE1-mediated unfolded protein response GO:0061077 chaperone-mediated protein folding
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
