InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FKBP6

Summary

InnateDB Protein

IDBP-19842.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FKBP6

Protein Name

FK506 binding protein 6, 36kDa

Synonyms

FKBP36;

Species

Homo sapiens

Ensembl Protein

ENSP00000252037

InnateDB Gene

IDBG-19838 (FKBP6)

Protein Structure

UniProt Annotation

Function

Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000250}. Chromosome {ECO:0000250}. Note=Does not localize to pi-bodies. Localizes to meiotic chromosome cores and regions of homologous chromosome synapsis (By similarity). {ECO:0000250}.

Disease Associations

Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease (PubMed:9782077). A father and son with Williams-Beuren syndrome appear to have a common heterozygous deletion that includes FKBP6 gene. However, the haploinsufficiency for FKBP6 does not appear to preclude male fertility (PubMed:15770126). {ECO:0000269PubMed:15770126, ECO:0000269PubMed:9782077}.Note=Defects in FKBP6 may be a cause of azoospermia. A study based on 323 patients with azoospermia or severe oligozoospermia suggested an association between FKBP6 variants and azoospermia (PubMed:17307919). However, other studies suggest that defects in FKBP6 are not a common cause of non-obstructive azoospermia (PubMed:16227348). {ECO:0000269PubMed:16227348, ECO:0000269PubMed:17307919}.

Tissue Specificity

Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003755	peptidyl-prolyl cis-trans isomerase activity
GO:0005515	protein binding
GO:0005528	FK506 binding
GO:0051879	Hsp90 protein binding

Biological Process

GO:0000413	protein peptidyl-prolyl isomerization
GO:0006457	protein folding
GO:0007126	meiotic nuclear division
GO:0007283	spermatogenesis
GO:0018208	peptidyl-proline modification
GO:0030154	cell differentiation
GO:0031047	gene silencing by RNA
GO:0034587	piRNA metabolic process
GO:0043046	DNA methylation involved in gamete generation
GO:0061077	chaperone-mediated protein folding

Cellular Component

GO:0000795	synaptonemal complex
GO:0005737	cytoplasm
GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR001179 Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain
IPR013026 Tetratricopeptide repeat-containing domain
IPR019734 Tetratricopeptide repeat

PFAM

PF00254
PF13174
PF13176
PF13181

PRINTS

PIRSF

SMART

SM00028

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O75344