FKBP14
entrez
55033
canonical
uniprot
Q9NWM8
canonical
ensembl
ENSG00000106080
resolver
ensp
ENSP00000222803
resolver
ensp
ENSP00000785874
resolver
enst
ENST00000222803
resolver
genesymbol
FKBP14
resolver
genesymbol_syn
FKBP22
resolver
hgnc
HGNC:18625
resolver
uniprot_entry
FKB14_HUMAN
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by tacrolimus/FK506. {ECO:0000269|PubMed:24821723}.
uniprot
proteins
amino_acid_sequence
MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLGILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEVKAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) [MIM:614557]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. {ECO:0000269|PubMed:22265013}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.2.1.8
uniprot
proteins
function
FUNCTION: PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens. {ECO:0000269|PubMed:24821723}.
uniprot
proteins
mass_dalton
24172
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22265013
uniprot
proteins
pubmed
24272907
uniprot
proteins
pubmed
24821723
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:22265013}.
uniprot
proteins