Endometriosis Knowledgebase

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Gene id

2288

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FKBP4 Gene UCSC Ensembl

Aliases

FKBP51, FKBP52, FKBP59, HBI, Hsp56, PPIase, p52

Gene name

FK506 binding protein 4

Alternate names

peptidyl-prolyl cis-trans isomerase FKBP4, FK506 binding protein 4, 59kDa, HSP binding immunophilin, T-cell FK506-binding protein, 59kD, peptidylprolyl cis-trans isomerase, rotamase,

Gene location

12p13.33 (2794941: 2805422) Exons: 11 NC_000012.12

Gene summary(Entrez)

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]

OMIM

600611

Protein Summary

Protein general information

Q02790

Name: Peptidyl prolyl cis trans isomerase FKBP4 (PPIase FKBP4) (EC 5.2.1.8) (51 kDa FK506 binding protein) (FKBP51) (52 kDa FK506 binding protein) (52 kDa FKBP) (FKBP 52) (59 kDa immunophilin) (p59) (FK506 binding protein 4) (FKBP 4) (FKBP59) (HSP binding immun

Length: 459 Mass: 51,805

Tissue specificity: Widely expressed. {ECO

Sequence

MTAEEMKATESGAQSAPLPMEGVDISPKQDEGVLKVIKREGTGTEMPMIGDRVFVHYTGWLLDGTKFDSSLDRKD
KFSFDLGKGEVIKAWDIAIATMKVGEVCHITCKPEYAYGSAGSPPKIPPNATLVFEVELFEFKGEDLTEEEDGGI
IRRIQTRGEGYAKPNEGAIVEVALEGYYKDKLFDQRELRFEIGEGENLDLPYGLERAIQRMEKGEHSIVYLKPSY
AFGSVGKEKFQIPPNAELKYELHLKSFEKAKESWEMNSEEKLEQSTIVKERGTVYFKEGKYKQALLQYKKIVSWL
EYESSFSNEEAQKAQALRLASHLNLAMCHLKLQAFSAAIESCNKALELDSNNEKGLFRRGEAHLAVNDFELARAD
FQKVLQLYPNNKAAKTQLAVCQQRIRRQLAREKKLYANMFERLAEEENKAKAEASSGDHPTDTEMKEEQKSNTAG
SQSQVETEA

Structural information

Protein Domains	PPIase (50-138) PPIase (167-253)
Interpro:	IPR031212 IPR023566 IPR001179 IPR013026 IPR011990 IPR001440 IPR013105 IPR019734
Prosite:	PS50059 PS50005 PS50293
Pfam:	PF00254 PF00515 PF07719
PDB:	1N1A 1P5Q 1Q1C 1QZ2 4DRJ 4LAV 4LAW 4LAX 4LAY 4TW8
PDBsum:	1N1A 1P5Q 1Q1C 1QZ2 4DRJ 4LAV 4LAW 4LAX 4LAY 4TW8
DIP:	50866
MINT:	3024864
STRING:	ENSP00000001008;

Other Databases

GeneCards: FKBP4; Malacards: FKBP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl i somerization	IEA	biological_process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005525	GTP binding	IEA	molecular_function
GO:0005528	FK506 binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IBA	cellular_component
GO:0005829	cytosol	ISS	cellular_component
GO:0005874	microtubule	IEA	cellular_component
GO:0006457	protein folding	TAS	biological_process
GO:0006463	steroid hormone receptor complex assembly	IEA	biological_process
GO:0006825	copper ion transport	IEA	biological_process
GO:0007566	embryo implantation	IEA	biological_process
GO:0010977	negative regulation of ne uron projection developme nt	ISS	biological_process
GO:0030521	androgen receptor signali ng pathway	IEA	biological_process
GO:0030674	protein binding, bridging	TAS	molecular_function
GO:0030850	prostate gland developmen t	IEA	biological_process
GO:0031072	heat shock protein bindin g	IPI	molecular_function
GO:0031111	negative regulation of mi crotubule polymerization or depolymerization	ISS	biological_process
GO:0031115	negative regulation of mi crotubule polymerization	IEA	biological_process
GO:0031503	protein complex localizat ion	IEA	biological_process
GO:0032767	copper-dependent protein binding	IEA	molecular_function
GO:0035259	glucocorticoid receptor b inding	IEA	molecular_function
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043234	protein complex	IEA	cellular_component
GO:0044295	axonal growth cone	ISS	cellular_component
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0046661	male sex differentiation	IEA	biological_process
GO:0048156	tau protein binding	IEA	molecular_function
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0051219	phosphoprotein binding	IEA	molecular_function
GO:0061077	chaperone-mediated protei n folding	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1900034	regulation of cellular re sponse to heat	TAS	biological_process
GO:0000413	protein peptidyl-prolyl i somerization	IEA	biological_process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular_function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular_function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular_function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005525	GTP binding	IEA	molecular_function
GO:0005528	FK506 binding	IEA	molecular_function
GO:0005528	FK506 binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IBA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	ISS	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005874	microtubule	IEA	cellular_component
GO:0006457	protein folding	IEA	biological_process
GO:0006457	protein folding	TAS	biological_process
GO:0006463	steroid hormone receptor complex assembly	IEA	biological_process
GO:0006825	copper ion transport	IEA	biological_process
GO:0007566	embryo implantation	IEA	biological_process
GO:0010977	negative regulation of ne uron projection developme nt	ISS	biological_process
GO:0016853	isomerase activity	IEA	molecular_function
GO:0030424	axon	IEA	cellular_component
GO:0030521	androgen receptor signali ng pathway	IEA	biological_process
GO:0030674	protein binding, bridging	TAS	molecular_function
GO:0030850	prostate gland developmen t	IEA	biological_process
GO:0031072	heat shock protein bindin g	IEA	molecular_function
GO:0031072	heat shock protein bindin g	IEA	molecular_function
GO:0031072	heat shock protein bindin g	IPI	molecular_function
GO:0031111	negative regulation of mi crotubule polymerization or depolymerization	ISS	biological_process
GO:0031115	negative regulation of mi crotubule polymerization	IEA	biological_process
GO:0031503	protein complex localizat ion	IEA	biological_process
GO:0032767	copper-dependent protein binding	IEA	molecular_function
GO:0035259	glucocorticoid receptor b inding	IEA	molecular_function
GO:0042995	cell projection	IEA	cellular_component
GO:0043005	neuron projection	IEA	cellular_component
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043234	protein complex	IEA	cellular_component
GO:0044295	axonal growth cone	IEA	cellular_component
GO:0044295	axonal growth cone	ISS	cellular_component
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0046661	male sex differentiation	IEA	biological_process
GO:0048156	tau protein binding	IEA	molecular_function
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048608	reproductive structure de velopment	IEA	biological_process
GO:0051219	phosphoprotein binding	IEA	molecular_function
GO:0061077	chaperone-mediated protei n folding	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1900034	regulation of cellular re sponse to heat	TAS	biological_process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005528	FK506 binding	TAS	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IBA	cellular_component
GO:0005829	cytosol	ISS	cellular_component
GO:0006457	protein folding	TAS	biological_process
GO:0010977	negative regulation of ne uron projection developme nt	ISS	biological_process
GO:0030674	protein binding, bridging	TAS	molecular_function
GO:0031072	heat shock protein bindin g	IPI	molecular_function
GO:0031111	negative regulation of mi crotubule polymerization or depolymerization	ISS	biological_process
GO:0044295	axonal growth cone	ISS	cellular_component
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0061077	chaperone-mediated protei n folding	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1900034	regulation of cellular re sponse to heat	TAS	biological_process

KEGG pathways

hsa04915 Estrogen signaling pathway

Diseases

Associated diseases	References
Asthma	PMID: 19254810
Endometriosis	PMID: 22279148
Endometriosis	PMID: 18988805
Hypospadias	PMID: 17343741
Polycystic ovary syndrome (PCOS)	PMID: 26493122
Endometriosis	INFBASE18988805
Endometriosis	INFBASE22279148

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
22279148	Endometrio sis		FKBP4 FKBP5 HOXA10	Show abstract
18988805	Endometrio sis	124(40 without endometriosis, 40 with eutopic endometriosis, 44 ectopic endo metriosis)		Show abstract
27778641	Endometrio sis	26 (15 with dee p infiltrating endometriosis, 11 without deep infiltrating e ndometriosis)	miR-29c	Show abstract