Recombinant Human Peptidyl-prolyl cis-trans isomerase FKBP6 (FKBP6)

Uniprot Id

O75344

Target Species

Human

Target Name

FKBP6

Target Full Name

Inactive peptidyl-prolyl cis-trans isomerase FKBP6

Target 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.

Target Involvement

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).

Target Subcellular Location

Cytoplasm, cytosol. Nucleus. Chromosome.

Target Protein Families

FKBP6 family

Target Tissue Specificity

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

Target Synonyms

36 kDa FK506 binding protein; 36 kDa FK506-binding protein; 36 kDa FKBP; EC 5.2.1.8; FK506 binding protein 6; FK506-binding protein 6; FKBP 36; FKBP-36; FKBP-6; FKBP36; fkbp6; FKBP6_HUMAN; Immunophilin FKBP36; Peptidyl prolyl cis trans isomerase; Peptidyl-prolyl cis-trans isomerase FKBP6; PPIase; PPIase FKBP6; Rotamase

Target Background

The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants.