Human Gene FKBP5 (uc003okx.2)
  Description: Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 1, mRNA.
RefSeq Summary (NM_004117): 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].
Transcript (Including UTRs)
   Position: hg19 chr6:35,541,362-35,656,719 Size: 115,358 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr6:35,543,612-35,610,601 Size: 66,990 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:35,541,362-35,656,719)mRNA (may differ from genome)Protein (457 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FKBP5_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP5; Short=PPIase FKBP5; EC=5.2.1.8; AltName: Full=51 kDa FK506-binding protein; Short=51 kDa FKBP; Short=FKBP-51; AltName: Full=54 kDa progesterone receptor-associated immunophilin; AltName: Full=Androgen-regulated protein 6; AltName: Full=FF1 antigen; AltName: Full=FK506-binding protein 5; Short=FKBP-5; AltName: Full=FKBP54; Short=p54; AltName: Full=HSP90-binding immunophilin; AltName: Full=Rotamase;
FUNCTION: Interacts with functionally mature heterooligomeric progesterone receptor complexes along with HSP90 and TEBP.
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
ENZYME REGULATION: Inhibited by FK506 but not cyclosporin.
SUBUNIT: Part of a heteromultimeric cytoplasmic complex with HSP90, HSP70 and steroid receptors. Dissociates from the complex when NR3C1 binds glucocorticoid.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Widely expressed, enriched in testis compared to other tissues.
INDUCTION: By androgen.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 2 PPIase FKBP-type domains.
SIMILARITY: Contains 3 TPR repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FKBP5
CDC HuGE Published Literature: FKBP5
Positive Disease Associations: depression
Related Studies:
  1. depression
    Binder, E. B. et al. 2004, Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment, Nature genetics. 2004 Dec;36(12):1319-25. [PubMed 15565110]
    These findings support a central role of genes regulating the HPA axis in the causality of depression and the mechanism of action of antidepressant drugs.

-  MalaCards Disease Associations
  MalaCards Gene Search: FKBP5
Diseases sorted by gene-association score: major depressive disorder and accelerated response to antidepressant drug treatment* (318), post-traumatic stress disorder (12), glucocorticoid resistance (10), ocular hypertension (8), borderline personality disorder (6), myelofibrosis with myeloid metaplasia, somatic (6), mental depression (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 90.80 RPKM in Esophagus - Muscularis
Total median expression: 1387.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.80158-0.454 Picture PostScript Text
3' UTR -608.912250-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023114 - Elongated_TPR_rpt_dom
IPR023566 - PPIase_FKBP
IPR001179 - PPIase_FKBP_dom
IPR001440 - TPR-1
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase
PF00515 - Tetratricopeptide repeat
PF13174 - Tetratricopeptide repeat
PF13176 - Tetratricopeptide repeat
PF13181 - Tetratricopeptide repeat

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
54534 - FKBP-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KT0 - X-ray MuPIT 3O5D - X-ray MuPIT 3O5E - X-ray MuPIT 3O5F - X-ray MuPIT 3O5G - X-ray MuPIT 3O5I - X-ray MuPIT 3O5J - X-ray MuPIT 3O5K - X-ray MuPIT 3O5L - X-ray MuPIT 3O5M - X-ray MuPIT 3O5O - X-ray MuPIT 3O5P - X-ray MuPIT 3O5Q - X-ray MuPIT 3O5R - X-ray MuPIT 4DRK - X-ray MuPIT 4DRM - X-ray MuPIT 4DRN - X-ray MuPIT 4DRO - X-ray MuPIT 4DRP - X-ray MuPIT 4DRQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13451
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0005515 protein binding
GO:0005528 FK506 binding
GO:0016853 isomerase activity
GO:0031072 heat shock protein binding

Biological Process:
GO:0000413 protein peptidyl-prolyl isomerization
GO:0006457 protein folding
GO:0061077 chaperone-mediated protein folding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP895559 - Sequence 423 from Patent EP3253886.
BC111050 - Homo sapiens FK506 binding protein 5, mRNA (cDNA clone MGC:111006 IMAGE:5723416), complete cds.
BX647390 - Homo sapiens mRNA; cDNA DKFZp686G08144 (from clone DKFZp686G08144).
BC042605 - Homo sapiens FK506 binding protein 5, mRNA (cDNA clone MGC:34489 IMAGE:4539929), complete cds.
AF194172 - Homo sapiens androgen-regulated protein 6 (AIG6) mRNA, complete cds.
AK302704 - Homo sapiens cDNA FLJ57237 complete cds, highly similar to FK506-binding protein 5 (EC 5.2.1.8).
AK303356 - Homo sapiens cDNA FLJ58213 complete cds, highly similar to FK506-binding protein 5 (EC 5.2.1.8).
AK222807 - Homo sapiens mRNA for FK506 binding protein 5 variant, clone: HEP04108.
U71321 - Human FK506-binding protein FKBP51 mRNA, complete cds.
AK312422 - Homo sapiens cDNA, FLJ92761, Homo sapiens FK506 binding protein 5 (FKBP5), mRNA.
AB209893 - Homo sapiens mRNA for FK506 binding protein 5 variant protein.
HM245391 - Homo sapiens FKBP5-TMPRSS2 breakpoint junction mRNA sequence.
AL122066 - Homo sapiens mRNA; cDNA DKFZp434P171 (from clone DKFZp434P171).
JD296757 - Sequence 277781 from Patent EP1572962.
JD549114 - Sequence 530138 from Patent EP1572962.
JD372056 - Sequence 353080 from Patent EP1572962.
JD248424 - Sequence 229448 from Patent EP1572962.
LF210765 - JP 2014500723-A/18268: Polycomb-Associated Non-Coding RNAs.
JD507846 - Sequence 488870 from Patent EP1572962.
JD358973 - Sequence 339997 from Patent EP1572962.
JD515769 - Sequence 496793 from Patent EP1572962.
JD112632 - Sequence 93656 from Patent EP1572962.
JD348457 - Sequence 329481 from Patent EP1572962.
JD331353 - Sequence 312377 from Patent EP1572962.
JD300582 - Sequence 281606 from Patent EP1572962.
JD423515 - Sequence 404539 from Patent EP1572962.
JD334039 - Sequence 315063 from Patent EP1572962.
JD287058 - Sequence 268082 from Patent EP1572962.
U42031 - Human 54 kDa progesterone receptor-associated immunophilin FKBP54 mRNA, partial cds.
JD398523 - Sequence 379547 from Patent EP1572962.
JD202476 - Sequence 183500 from Patent EP1572962.
JD561563 - Sequence 542587 from Patent EP1572962.
JD291170 - Sequence 272194 from Patent EP1572962.
JD066600 - Sequence 47624 from Patent EP1572962.
JD150348 - Sequence 131372 from Patent EP1572962.
JD383140 - Sequence 364164 from Patent EP1572962.
JD343358 - Sequence 324382 from Patent EP1572962.
JD472840 - Sequence 453864 from Patent EP1572962.
JD283477 - Sequence 264501 from Patent EP1572962.
JD088011 - Sequence 69035 from Patent EP1572962.
HW800036 - JP 2014530803-A/97: MICRO-RNAS AND COMPOSITIONS COMPRISING SAME FOR THE TREATMENT AND DIAGNOSIS OF SEROTONIN-, ADRENALIN-, NORADRENALIN-, GLUTAMATE-, AND CORTICOTROPIN-RELEASING HORMONE-ASSOCIATED MEDICAL CONDITIONS.
JE972046 - Sequence 97 from Patent WO2015118537.
LP883688 - Sequence 97 from Patent EP3208338.
LX145720 - JP 2017506228-A/97: MICRO-RNAS AND COMPOSITIONS COMPRISING SAME FOR THE TREATMENT AND DIAGNOSIS OF SEROTONIN-, ADRENALIN-, NORADRENALIN-, GLUTAMATE-, AND CORTICOTROPIN-RELEASING HORMONE-ASSOCIATED MEDICAL CONDITIONS.
LX245277 - JP 2017095482-A/97: MICRO-RNAS AND COMPOSITIONS COMPRISING SAME FOR THE TREATMENT AND DIAGNOSIS OF SEROTONIN-, ADRENALIN-, NORADRENALIN-, GLUTAMATE-, AND CORTICOTROPIN-RELEASING HORMONE-ASSOCIATED MEDICAL CONDITIONS.
JD372657 - Sequence 353681 from Patent EP1572962.
JD340286 - Sequence 321310 from Patent EP1572962.
AB463641 - Synthetic construct DNA, clone: pF1KB8354, Homo sapiens FKBP5 gene for FK506 binding protein 5, without stop codon, in Flexi system.
AM393744 - Synthetic construct Homo sapiens clone IMAGE:100002460 for hypothetical protein (FKBP5 gene).
X97300 - H.sapiens mRNA for Ptg-10 protein.
HM245388 - Homo sapiens TMPRSS2-FKBP5 breakpoint junction transcript variant 2 and FKBP5-ERG breakpoint junction transcript variant 2 mRNA sequence.
HM245387 - Homo sapiens TMPRSS2-FKBP5 breakpoint junction transcript variant 1 and FKBP5-ERG breakpoint junction transcript variant 1 mRNA sequence.
JD029219 - Sequence 10243 from Patent EP1572962.
JD019294 - Sequence 318 from Patent EP1572962.
JD022616 - Sequence 3640 from Patent EP1572962.
JD032266 - Sequence 13290 from Patent EP1572962.
MA446342 - JP 2018138019-A/18268: Polycomb-Associated Non-Coding RNAs.
MP262593 - Sequence 97 from Patent EP3524679.
MB471180 - JP 2019172696-A/97: MICRO-RNAS AND COMPOSITIONS COMPRISING SAME FOR THE TREATMENT AND DIAGNOSIS OF SEROTONIN-, ADRENALIN-, NORADRENALIN-, GLUTAMATE-, AND CORTICOTROPIN-RELEASING HORMONE-ASSOCIATED MEDICAL CONDITIONS.
JD452364 - Sequence 433388 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13451 (Reactome details) participates in the following event(s):

R-HSA-5618105 FKBP5 binds HSP90:ATP:STIP1:HSP70:nascent protein
R-HSA-5618073 FKBP4 replaces FKBP5 within HSP90:ATP:FKBP5:unfolded protein
R-HSA-5618098 p23 (PTGES3) binds HSP90:ATP:FKBP5:nascent protein
R-HSA-8939203 HSP90-dependent ATP hydrolysis promotes release of ESR:ESTG from chaperone complex
R-HSA-8939204 ESTG binds the ESR:chaperone complex
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR)
R-HSA-2262752 Cellular responses to stress
R-HSA-8939211 ESR-mediated signaling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AIG6, FKBP51, FKBP5_HUMAN, NM_004117, NP_004108, Q13451, Q5TGM6
UCSC ID: uc003okx.2
RefSeq Accession: NM_004117
Protein: Q13451 (aka FKBP5_HUMAN or FKB5_HUMAN)
CCDS: CCDS4808.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004117.3
exon count: 11CDS single in 3' UTR: no RNA size: 3793
ORF size: 1374CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2921.00frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.