FKBP10
entrez
60681
canonical
uniprot
Q96AY3
canonical
ensembl
ENSG00000141756
resolver
ensp
ENSP00000317232
resolver
ensp
ENSP00000534452
resolver
genesymbol
FKBP10
resolver
genesymbol_syn
FKBP65
resolver
hgnc
HGNC:18169
resolver
uniprot
Q7Z3R4
resolver
uniprot
Q8NAG5
resolver
uniprot
Q9H3N3
resolver
uniprot
Q9H6J3
resolver
uniprot
Q9H6N5
resolver
uniprot
Q9UF89
resolver
uniprot_entry
FKB10_HUMAN
resolver
uniprot_entry
Q8NAG5_HUMAN
resolver
uniprot_sec
Q7Z3R4
resolver
uniprot_sec
Q9H3N3
resolver
uniprot_sec
Q9H6J3
resolver
uniprot_sec
Q9H6N5
resolver
uniprot_sec
Q9UF89
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by both FK506 and rapamycin, but not by cyclosporin A. {ECO:0000250}.
uniprot
proteins
amino_acid_sequence
MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDVVIERYHIPRACPREVQMGDFVRYHYNGTFEDGKKFDSSYDRNTLVAIVVGVGRLITGMDRGLMGMCVNERRRLIVPPHLGYGSIGLAGLIPPDATLYFDVVLLDVWNKEDTVQVSTLLRPPHCPRMVQDGDFVRYHYNGTLLDGTSFDTSYSKGGTYDTYVGSGWLIKGMDQGLLGMCPGERRKIIIPPFLAYGEKGYGTVIPPQASLVFHVLLIDVHNPKDAVQLETLELPPGCVRRAGAGDFMRYHYNGSLMDGTLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGACMGERRRITIPPHLAYGENGTGDKIPGSAVLIFNVHVIDFHNPADVVEIRTLSRPSETCNETTKLGDFVRYHYNCSLLDGTQLFTSHDYGAPQEATLGANKVIEGLDTGLQGMCVGERRQLIVPPHLAHGESGARGVPGSAVLLFEVELVSREDGLPTGYLFVWHKDPPANLFEDMDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPGQDPEKTIGDMFQNQDRNQDGKITVDELKLKSDEDEERVHEEL
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 11 (OI11) [MIM:610968]: A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form. {ECO:0000269|PubMed:20362275, ECO:0000269|PubMed:20839288, ECO:0000269|PubMed:22949511}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bruck syndrome 1 (BRKS1) [MIM:259450]: A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. {ECO:0000269|PubMed:20839288, ECO:0000269|PubMed:22949511}. 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: PPIases accelerate the folding of proteins during protein synthesis.
uniprot
proteins
mass_dalton
64245
uniprot
proteins
post_translational_modification
PTM: Glycosylated and phosphorylated. {ECO:0000250}.
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20362275
uniprot
proteins
pubmed
20839288
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22949511
uniprot
proteins
sequence_length
582
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
uniprot
proteins