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

    Gene ID: 2289, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FKBP5 in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35573590..35728583, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35396664..35548947, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 response to alcohol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cocaine 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

    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)

    NEW Try the new Transcript table

    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_001145775.3NP_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:230397
      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:319345
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    2. NM_001145776.2NP_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:230397
      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:319345
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    3. NM_001145777.2NP_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:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      cl19519
      Location:158221
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    4. NM_004117.4NP_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:230397
      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:319345
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)