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

    Gene ID: 2288, updated on 15-May-2022

    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
    110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (2794970..2805423)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (2800969..2811423)
    105.20220307 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 ribosomal protein L23a pseudogene 14 Neighboring gene chromobox 3 pseudogene 4 Neighboring gene integrin alpha FG-GAP repeat containing 2 Neighboring gene nuclear receptor interacting protein 2 Neighboring gene testis expressed 52

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables FK506 binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables copper-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear glucocorticoid receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidyl-prolyl cis-trans isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables peptidyl-prolyl cis-trans isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphoprotein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables tau protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in androgen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chaperone-mediated protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in copper ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male sex differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of microtubule polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of microtubule polymerization or depolymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    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
    PubMed 
    involved_in protein-containing complex localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid hormone receptor complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axonal growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    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.

    mRNA and Protein(s)

    1. NM_002014.4NP_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
      Q02790
      Related
      ENSP00000001008.4, ENST00000001008.6
      Conserved Domains (4) summary
      sd00006
      Location:274301
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:43134
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      cl26002
      Location:250395
      TPR_11; TPR repeat
      cl27578
      Location:155254
      FKBP_N; Domain amino terminal to FKBP-type peptidyl-prolyl isomerase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047428539.1XP_047284495.1  peptidyl-prolyl cis-trans isomerase FKBP4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

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