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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

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_002014.4NP_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
    D3DUQ1, Q02790, Q9UCP1, Q9UCV7
    UniProtKB/TrEMBL
    B2R9U2
    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: 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_047428539.1XP_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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