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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
    mouse all
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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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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