Homo sapiens Protein: FKBP14
Summary
InnateDB Protein IDBP-10947.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FKBP14
Protein Name FK506 binding protein 14, 22 kDa
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000222803
InnateDB Gene IDBG-10945 (FKBP14)
Protein Structure
UniProt Annotation
Function PPIases accelerate the folding of proteins during protein synthesis.
Subcellular Localization Endoplasmic reticulum lumen {ECO:0000255PROSITE-ProRule:PRU10138, ECO:0000269PubMed:22265013}.
Disease Associations 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; hearing impairment, which is predominantly sensorineural; normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. {ECO:0000269PubMed:22265013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 6 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005509 calcium ion binding
GO:0005528 FK506 binding
Biological Process
GO:0000413 protein peptidyl-prolyl isomerization
GO:0006457 protein folding
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0044267 cellular protein metabolic process
GO:0061077 chaperone-mediated protein folding
Cellular Component
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
Protein Structure and Domains
PDB ID
InterPro IPR001179 Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain
IPR002048 EF-hand domain
PFAM PF00254
PF00036
PF13202
PF13405
PRINTS
PIRSF
SMART SM00054
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NWM8
PhosphoSite PhosphoSite-Q9NWM8
TrEMBL F8WBZ0
UniProt Splice Variant
Entrez Gene 55033
UniGene Hs.603294
RefSeq NP_060416
HUGO HGNC:18625
OMIM 614505
CCDS CCDS5423
HPRD 16898
IMGT
EMBL AC007285 AK000738 AY358643 BC005206
GenPept AAH05206 AAQ89006 BAA91351