FKBP6
entrez
8468
canonical
uniprot
O75344
canonical
ensembl
ENSG00000077800
resolver
ensp
ENSP00000252037
resolver
ensp
ENSP00000394952
resolver
ensp
ENSP00000402360
resolver
ensp
ENSP00000416277
resolver
ensp
ENSP00000497448
resolver
genesymbol
FKBP6
resolver
genesymbol_syn
FKBP36
resolver
hgnc
HGNC:3722
resolver
uniprot
B4DXT7
resolver
uniprot
G3V0I2
resolver
uniprot
Q7Z4T4
resolver
uniprot
Q9UDS0
resolver
uniprot_entry
FKBP6_HUMAN
resolver
uniprot_sec
B4DXT7
resolver
uniprot_sec
G3V0I2
resolver
uniprot_sec
Q7Z4T4
resolver
uniprot_sec
Q9UDS0
resolver
amino_acid_sequence
MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:15770126, ECO:0000269|PubMed:9782077}.; DISEASE: Spermatogenic failure 77 (SPGF77) [MIM:620103]: An autosomal recessive male infertility disorder characterized by oligozoospermia or azoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm abnormalities include double and triple tails, with amorphous or fragmented and enlarged heads, as well as pinhead sperm. Testicular tissue shows arrest at the round spermatid stage. {ECO:0000269|PubMed:17307919, ECO:0000269|PubMed:36150389}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has an essential role in spermatogenesis (PubMed:36150389). It is required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity (By similarity). 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 (By similarity). Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis (By similarity). 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|UniProtKB:Q91XW8, ECO:0000269|PubMed:36150389}.
uniprot
proteins
mass_dalton
37214
uniprot
proteins
protein_family
FKBP6 family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15770126
uniprot
proteins
pubmed
16227348
uniprot
proteins
pubmed
17307919
uniprot
proteins
pubmed
18529014
uniprot
proteins
pubmed
19001379
uniprot
proteins
pubmed
36150389
uniprot
proteins
pubmed
9782077
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:36150389}. Nucleus {ECO:0000269|PubMed:36150389}. Note=In spermatocytes, it colocalizes with PIWIL1 in large cytoplasmic granules (PubMed:36150389). Does not localize to the synaptonemal complex (PubMed:36150389). {ECO:0000269|PubMed:36150389}.
uniprot
proteins