InnateDB: Systems Biology of the Innate Immune Response

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