Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2289
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol FKBP5   Gene   UCSC   Ensembl
Aliases AIG6, FKBP51, FKBP54, P54, PPIase, Ptg-10
Gene name FK506 binding protein 5
Alternate names peptidyl-prolyl cis-trans isomerase FKBP5, 51 kDa FK506-binding protein, 51 kDa FKBP, 54 kDa progesterone receptor-associated immunophilin, FF1 antigen, FKBP-51, HSP90-binding immunophilin, PPIase FKBP5, T-cell FK506-binding protein, androgen-regulated protein 6, p,
Gene location 6p21.31 (35728582: 35573584)     Exons: 13     NC_000006.12
Gene summary(Entrez) The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
OMIM 602623

Protein Summary

Protein general information Q13451  

Name: Peptidyl prolyl cis trans isomerase FKBP5 (PPIase FKBP5) (EC 5.2.1.8) (51 kDa FK506 binding protein) (51 kDa FKBP) (FKBP 51) (54 kDa progesterone receptor associated immunophilin) (Androgen regulated protein 6) (FF1 antigen) (FK506 binding protein 5) (FKB

Length: 457  Mass: 51,212

Tissue specificity: Widely expressed, enriched in testis compared to other tissues.

Sequence MTTDEGAKNNEESPTATVAEQGEDITSKKDRGVLKIVKRVGNGEETPMIGDKVYVHYKGKLSNGKKFDSSHDRNE
PFVFSLGKGQVIKAWDIGVATMKKGEICHLLCKPEYAYGSAGSLPKIPSNATLFFEIELLDFKGEDLFEDGGIIR
RTKRKGEGYSNPNEGATVEIHLEGRCGGRMFDCRDVAFTVGEGEDHDIPIGIDKALEKMQREEQCILYLGPRYGF
GEAGKPKFGIEPNAELIYEVTLKSFEKAKESWEMDTKEKLEQAAIVKEKGTVYFKGGKYMQAVIQYGKIVSWLEM
EYGLSEKESKASESFLLAAFLNLAMCYLKLREYTKAVECCDKALGLDSANEKGLYRRGEAQLLMNEFESAKGDFE
KVLEVNPQNKAARLQISMCQKKAKEHNERDRRIYANMFKKFAEQDAKEEANKAMGKKTSEGVTNEKGTDSQAMEE
EKPEGHV
Structural information
Protein Domains
PPIase (42-130)
PPIase (157-243)
Interpro:  IPR031210 IPR023566 IPR001179 IPR013026 IPR011990 IPR001440 IPR019734
Prosite:   PS50059 PS50005 PS50293

Pfam:  
PF00254 PF00515 PF13181

PDB:  
1KT0 3O5D 3O5E 3O5F 3O5G 3O5I 3O5J 3O5K 3O5L 3O5M 3O5O 3O5P 3O5Q 3O5R 4DRH 4DRI 4DRK 4DRM 4DRN 4DRO 4DRP 4DRQ 4JFI 4JFJ 4JFK 4JFL 4JFM 4R0X 4TW6 4TW7 4TX0 4W9O 4W9P 4W9Q 5BXJ 5DIT 5DIU 5DIV
PDBsum:   1KT0 3O5D 3O5E 3O5F 3O5G 3O5I 3O5J 3O5K 3O5L 3O5M 3O5O 3O5P 3O5Q 3O5R 4DRH 4DRI 4DRK 4DRM 4DRN 4DRO 4DRP 4DRQ 4JFI 4JFJ 4JFK 4JFL 4JFM 4R0X 4TW6 4TW7 4TX0 4W9O 4W9P 4W9Q 5BXJ 5DIT 5DIU 5DIV

DIP:  
27597
MINT:   1142816
STRING:   ENSP00000338160;
Other Databases GeneCards:  FKBP5;  Malacards:  FKBP5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000413 protein peptidyl-prolyl i
somerization
IEA biological_process
GO:0003755 peptidyl-prolyl cis-trans
isomerase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005528 FK506 binding
IEA molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IBA cellular_component
GO:0006457 protein folding
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0031072 heat shock protein bindin
g
IPI molecular_function
GO:0061077 chaperone-mediated protei
n folding
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0000413 protein peptidyl-prolyl i
somerization
IEA biological_process
GO:0003755 peptidyl-prolyl cis-trans
isomerase activity
IEA molecular_function
GO:0003755 peptidyl-prolyl cis-trans
isomerase activity
IEA molecular_function
GO:0003755 peptidyl-prolyl cis-trans
isomerase activity
IEA molecular_function
GO:0003755 peptidyl-prolyl cis-trans
isomerase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005528 FK506 binding
IEA molecular_function
GO:0005528 FK506 binding
TAS molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IBA cellular_component
GO:0006457 protein folding
IEA biological_process
GO:0006457 protein folding
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016853 isomerase activity
IEA molecular_function
GO:0031072 heat shock protein bindin
g
IEA molecular_function
GO:0031072 heat shock protein bindin
g
IPI molecular_function
GO:0061077 chaperone-mediated protei
n folding
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0003755 peptidyl-prolyl cis-trans
isomerase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005528 FK506 binding
TAS molecular_function
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IBA cellular_component
GO:0006457 protein folding
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0031072 heat shock protein bindin
g
IPI molecular_function
GO:0061077 chaperone-mediated protei
n folding
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04915  Estrogen signaling pathway

Diseases

Associated diseases References
Addison's disease PMID: 19282465
Asthma PMID: 19254810
Depression KEGG: H01646
Endometriosis PMID: 22279148
Inflammation PMID: 19233472
Endometriosis INFBASE22279148

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22279148 Endometrio
sis


FKBP4
FKBP5
HOXA10
Show abstract