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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FKBP4 correlates with CD8[+] T cells and lymphatic metastases in oral squamous cell carcinoma.
Title: FKBP4 correlates with CD8(+) T cells and lymphatic metastases in oral squamous cell carcinoma.
Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson's Disease Patients with GBA1 Mutations.
Title: Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson's Disease Patients with GBA1 Mutations.
Impact of FKBP52 on cell proliferation and hormone-dependent cancers.
Title: Impact of FKBP52 on cell proliferation and hormone-dependent cancers.
Concomitant Neuronal Tau Deposition and FKBP52 Decrease Is an Early Feature of Different Human and Experimental Tauopathies.
Title: Concomitant Neuronal Tau Deposition and FKBP52 Decrease Is an Early Feature of Different Human and Experimental Tauopathies.
E2F Transcription Factor 1 Activates FKBP Prolyl Isomerase 4 to Promote Angiogenesis in Cervical Squamous Cell Carcinoma Via the PI3K/AKT Signaling Pathway.
Title: E2F Transcription Factor 1 Activates FKBP Prolyl Isomerase 4 to Promote Angiogenesis in Cervical Squamous Cell Carcinoma Via the PI3K/AKT Signaling Pathway.
Functions of the Hsp90-Binding FKBP Immunophilins.
Title: Functions of the Hsp90-Binding FKBP Immunophilins.
LncRNA MAFG-AS1 deregulated in breast cancer affects autophagy and progression of breast cancer by interacting with miR-3612 and FKBP4 invitro.
Title: LncRNA MAFG-AS1 deregulated in breast cancer affects autophagy and progression of breast cancer by interacting with miR-3612 and FKBP4 invitro.
FKBP52 and FKBP51 differentially regulate the stability of estrogen receptor in breast cancer.
Title: FKBP52 and FKBP51 differentially regulate the stability of estrogen receptor in breast cancer.
FKBP51 and FKBP52 regulate androgen receptor dimerization and proliferation in prostate cancer cells.
Title: FKBP51 and FKBP52 regulate androgen receptor dimerization and proliferation in prostate cancer cells.
Decrease of neuronal FKBP4/FKBP52 modulates perinuclear lysosomal positioning and MAPT/Tau behavior during MAPT/Tau-induced proteotoxic stress.
Title: Decrease of neuronal FKBP4/FKBP52 modulates perinuclear lysosomal positioning and MAPT/Tau behavior during MAPT/Tau-induced proteotoxic stress.

Submit: New GeneRIF Correction See all GeneRIFs (66)

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1077 (e-PCR)
- UniSTS:57092

WI-15391 (e-PCR)
- UniSTS:36418

G11814 (e-PCR)
- UniSTS:36173

RH67908 (e-PCR)
- UniSTS:63633

D12S1866 (e-PCR)
- UniSTS:63925

RH17746 (e-PCR)
- UniSTS:21751

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 more info	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
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
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-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
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 more info	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

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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

EC 5.2.1.8

XP_047284495.1

EC 5.2.1.8

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)

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