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    FKBP4 FKBP prolyl isomerase 4 [ Homo sapiens (human) ]

    Gene ID: 2288, updated on 4-Jan-2025

    Summary

    Official Symbol
    FKBP4provided by HGNC
    Official Full Name
    FKBP prolyl isomerase 4provided by HGNC
    Primary source
    HGNC:HGNC:3720
    See related
    Ensembl:ENSG00000004478 MIM:600611; AllianceGenome:HGNC:3720
    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
    HBI; p52; Hsp56; FKBP51; FKBP52; FKBP59; PPIase
    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 has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]
    Expression
    Ubiquitous expression in testis (RPKM 24.9), kidney (RPKM 21.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See FKBP4 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (2794970..2805423)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (2800969..2811423)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2904136..2914589)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ITFG2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2892593-2893094 Neighboring gene ribosomal protein L23a pseudogene 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2903015-2903560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2903561-2904105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4132 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:2905599-2906798 Neighboring gene CBX3 pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:2921381-2922130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2928702-2929202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2929203-2929703 Neighboring gene integrin alpha FG-GAP repeat containing 2 Neighboring gene Sharpr-MPRA regulatory region 8339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2943338-2943882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2943883-2944427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2944428-2944971 Neighboring gene nuclear receptor interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2953993-2954980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2954981-2955966 Neighboring gene testis expressed 52

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (19 hits/1276 screens)

    EBI GWAS Catalog

    Description
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat upregulates the abundance of FK506 binding protein 4 (FKBP4) in the nucleoli of Jurkat T-cells PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human FK506 binding protein 4, 59kDa (FKBP4) at amino acid residues 21-22 by the HIV-1 protease PubMed
    gag-pol HIV-1 PR is identified to have a physical interaction with FK506 binding protein 4 (FKBP4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in axonal growth cone  
    is_active_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in microtubule  
    located_in mitochondrion  
    located_in neuronal cell body  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in perinuclear region of cytoplasm  
    part_of protein-containing complex  

    General protein information

    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP4
    Names
    FK506 binding protein 4, 59kDa
    HSP binding immunophilin
    T-cell FK506-binding protein, 59kD
    peptidylprolyl cis-trans isomerase
    rotamase
    NP_002005.1
    XP_047284495.1

    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.

    mRNA and Protein(s)

    1. NM_002014.4 → NP_002005.1  peptidyl-prolyl cis-trans isomerase FKBP4

      See identical proteins and their annotated locations for NP_002005.1

      Status: REVIEWED

      Source sequence(s)
      AK024694, BC001786, BQ083177, BQ446607, BU685040, DA392592
      Consensus CDS
      CCDS8512.1
      UniProtKB/Swiss-Prot
      D3DUQ1, Q02790, Q9UCP1, Q9UCV7
      UniProtKB/TrEMBL
      B2R9U2
      Related
      ENSP00000001008.4, ENST00000001008.6
      Conserved Domains (4) summary
      sd00006
      Location:274 → 301
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43 → 134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      cl26002
      Location:250 → 395
      TPR_11; TPR repeat
      cl27578
      Location:155 → 254
      FKBP_N; Domain amino terminal to FKBP-type peptidyl-prolyl 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      2794970..2805423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428539.1 → XP_047284495.1  peptidyl-prolyl cis-trans isomerase FKBP4 isoform X1

      UniProtKB/TrEMBL
      B2R9U2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      2800969..2811423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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