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FKBP5 FKBP prolyl isomerase 5 [ Homo sapiens (human) ]

Gene ID: 2289, updated on 13-Apr-2024

Summary

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Official Symbol
FKBP5provided by HGNC
Official Full Name
FKBP prolyl isomerase 5provided by HGNC
Primary source
HGNC:HGNC:3721
See related
Ensembl:ENSG00000096060 MIM:602623; AllianceGenome:HGNC:3721
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P54; AIG6; FKBP51; FKBP54; PPIase; Ptg-10
Summary
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]
Expression
Broad expression in fat (RPKM 97.5), lymph node (RPKM 33.3) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35573590..35728583, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35396664..35548947, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35541367..35696360, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901310 Neighboring gene ribosomal protein S15a pseudogene 19 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35534442-35534642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35536983-35537483 Neighboring gene MPRA-validated peak5768 silencer Neighboring gene MPRA-validated peak5770 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:35568969-35569474 Neighboring gene Sharpr-MPRA regulatory region 13603 Neighboring gene ribosomal protein L36 pseudogene 9 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:35630473-35630974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:35630975-35631474 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35639883-35640082 Neighboring gene microRNA 5690 Neighboring gene MPRA-validated peak5774 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17096 Neighboring gene MPRA-validated peak5775 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35685276-35685841 Neighboring gene Sharpr-MPRA regulatory region 8621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24411 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35693619-35693795 Neighboring gene Sharpr-MPRA regulatory region 11861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17098 Neighboring gene Sharpr-MPRA regulatory region 7900 Neighboring gene uncharacterized LOC285847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35705089-35705697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35705698-35706306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35706915-35707523 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35707524-35708131 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35715250-35715449 Neighboring gene armadillo repeat containing 12 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:35723005-35723594 Neighboring gene MPRA-validated peak5777 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24413 Neighboring gene MPRA-validated peak5778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24414 Neighboring gene CMPK1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. FKBP5, a Modulator of Stress Responses Involved in Malignant Mesothelioma: The Link between Stress and Cancer. Cugliari G. Int J Mol Sci, 2023 May 3. PMID 37175892, Free PMC Article
  2. Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population. Su J, et al. Cell Rep, 2023 May 30. PMID 37171956
  3. Longitudinal relation between maladaptive parenting and nonsuicidal self-injury among Chinese early adolescents: The roles of internalizing symptoms and FKBP5 gene variation. Zhou J, et al. J Affect Disord, 2023 Jun 15. PMID 36934853
  4. Potential role of FKBP5 single-nucleotide polymorphisms in functional seizures. Asadi-Pooya AA, et al. Epilepsia Open, 2023 Jun. PMID 36825897, Free PMC Article
  5. Association of job stress, FK506 binding protein 51 (FKBP5) gene polymorphisms and their interaction with sleep disturbance. Li P, et al. PeerJ, 2023. PMID 36743961, Free PMC Article

See all (423) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Sex-dependent association of DNA methylation of HPA axis-related gene FKBP5 with obsessive-compulsive disorder.
    Title: Sex-dependent association of DNA methylation of HPA axis-related gene FKBP5 with obsessive-compulsive disorder.
  2. HPA flexibility and FKBP5: promising physiological targets for conservation.
    Title: HPA flexibility and FKBP5: promising physiological targets for conservation.
  3. Methylation Patterns of the FKBP5 Gene in Association with Childhood Maltreatment and Depressive Disorders.
    Title: Methylation Patterns of the FKBP5 Gene in Association with Childhood Maltreatment and Depressive Disorders.
  4. Blood mRNA expression levels of glucocorticoid receptors and FKBP5 are associated with depressive disorder and altered HPA axis.
    Title: Blood mRNA expression levels of glucocorticoid receptors and FKBP5 are associated with depressive disorder and altered HPA axis.
  5. Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
    Title: Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
  6. FKBP5 associated CD8 T cell infiltration is a novel prognostic biomarker in luminal B breast cancer.
    Title: FKBP5 associated CD8 T cell infiltration is a novel prognostic biomarker in luminal B breast cancer.
  7. Downregulation of FKBP5 Promotes Atrial Arrhythmogenesis.
    Title: Downregulation of FKBP5 Promotes Atrial Arrhythmogenesis.
  8. A DNA methylation signature in the stress driver gene Fkbp5 indicates a neuropathic component in chronic pain.
    Title: A DNA methylation signature in the stress driver gene Fkbp5 indicates a neuropathic component in chronic pain.
  9. MicroRNA hsa-miR-320a-3p and Its Targeted mRNA FKBP5 Were Differentially Expressed in Patients with HIV/TB Co-Infection.
    Title: MicroRNA hsa-miR-320a-3p and Its Targeted mRNA FKBP5 Were Differentially Expressed in Patients with HIV/TB Co-Infection.
  10. Epigenetic differences in stress response gene FKBP5 among children with abusive vs accidental injuries.
    Title: Epigenetic differences in stress response gene FKBP5 among children with abusive vs accidental injuries.
Submit: New GeneRIF Correction See all GeneRIFs (319)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Major depressive disorder
MedGen: C1269683 OMIM: 608516 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC111006

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FK506 binding TAS
Traceable Author Statement
more info
 PubMed 
enables heat shock protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chaperone-mediated protein folding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein folding TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein peptidyl-prolyl isomerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IC
Inferred by Curator
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
peptidyl-prolyl cis-trans isomerase FKBP5
Names
51 kDa FK506-binding protein
51 kDa FKBP
54 kDa progesterone receptor-associated immunophilin
FF1 antigen
FK506 binding protein 5
FKBP-51
HSP90-binding immunophilin
PPIase FKBP5
T-cell FK506-binding protein
androgen-regulated protein 6
peptidylprolyl cis-trans isomerase
rotamase
NP_001139247.1
NP_001139248.1
NP_001139249.1
NP_004108.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012645.2 RefSeqGene

    Range
    44669..159994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145775.3 → NP_001139247.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1

    See identical proteins and their annotated locations for NP_001139247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AL033519, AW182642, BC042605, KF458140
    Consensus CDS
    CCDS4808.1
    UniProtKB/Swiss-Prot
    F5H7R1, Q13451, Q59EB8, Q5TGM6
    UniProtKB/TrEMBL
    Q2TA84, Q53GX4
    Related
    ENSP00000444810.1, ENST00000536438.5
    Conserved Domains (3) summary
    TIGR00990
    Location:230 → 397
    3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
    sd00006
    Location:319 → 345
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:43 → 135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  2. NM_001145776.2 → NP_001139248.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1

    See identical proteins and their annotated locations for NP_001139248.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AK312422, AL033519, AL590400, AW182642
    Consensus CDS
    CCDS4808.1
    UniProtKB/Swiss-Prot
    F5H7R1, Q13451, Q59EB8, Q5TGM6
    UniProtKB/TrEMBL
    Q2TA84, Q53GX4
    Related
    ENSP00000441205.1, ENST00000539068.5
    Conserved Domains (3) summary
    TIGR00990
    Location:230 → 397
    3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
    sd00006
    Location:319 → 345
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:43 → 135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  3. NM_001145777.2 → NP_001139249.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region and 3' UTR compared to variant 1 which result in a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB209893, AL033519, AL590400
    Consensus CDS
    CCDS54996.1
    UniProtKB/Swiss-Prot
    Q13451
    Related
    ENSP00000442340.1, ENST00000542713.1
    Conserved Domains (2) summary
    pfam00254
    Location:43 → 135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    cl19519
    Location:158 → 221
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  4. NM_004117.4 → NP_004108.1  peptidyl-prolyl cis-trans isomerase FKBP5 isoform 1

    See identical proteins and their annotated locations for NP_004108.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AL033519, AW182642, BC111050, DB066174, U42031
    Consensus CDS
    CCDS4808.1
    UniProtKB/Swiss-Prot
    F5H7R1, Q13451, Q59EB8, Q5TGM6
    UniProtKB/TrEMBL
    Q2TA84, Q53GX4
    Related
    ENSP00000349811.3, ENST00000357266.9
    Conserved Domains (3) summary
    TIGR00990
    Location:230 → 397
    3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
    sd00006
    Location:319 → 345
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:43 → 135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    35573590..35728583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    35396664..35548947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13451.2 GenPept UniProtKB/Swiss-Prot:Q13451

Gene LinkOut

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