FKBP6 (FKBP prolyl isomerase family member 6 (inactive))

Gene

• Entrez ID: 8468
• Gene name: FKBP prolyl isomerase family member 6 (inactive)
• Gene symbol: FKBP6
• Synonyms (NCBI Gene): FKBP36, SPGF77
• Disease Acronyms (UniProt): SPGF77
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: 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 William

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT997705	hsa-miR-3192	CLIP-seq
MIRT997706	hsa-miR-3199	CLIP-seq
MIRT997707	hsa-miR-3689a-3p	CLIP-seq
MIRT997708	hsa-miR-3689c	CLIP-seq
MIRT997709	hsa-miR-4446-3p	CLIP-seq
MIRT997710	hsa-miR-4492	CLIP-seq
MIRT997711	hsa-miR-4498	CLIP-seq
MIRT997712	hsa-miR-4505	CLIP-seq
MIRT997713	hsa-miR-4515	CLIP-seq
MIRT997714	hsa-miR-4699-3p	CLIP-seq
MIRT997715	hsa-miR-4728-5p	CLIP-seq
MIRT997716	hsa-miR-762	CLIP-seq
MIRT2465297	hsa-miR-140-3p	CLIP-seq
MIRT2465298	hsa-miR-3134	CLIP-seq
MIRT2465299	hsa-miR-4434	CLIP-seq
MIRT2465300	hsa-miR-4516	CLIP-seq
MIRT2465301	hsa-miR-4531	CLIP-seq
MIRT2465302	hsa-miR-4534	CLIP-seq
MIRT2465303	hsa-miR-589	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000413	Process	Protein peptidyl-prolyl isomerization	IEA
GO:0000795	Component	Synaptonemal complex	ISS
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25036637, 25416956, 25910212, 26567527, 28514442, 29892012, 31515488, 32296183, 32814053
GO:0005528	Function	FK506 binding	TAS	9782077
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	ISS
GO:0006457	Process	Protein folding	ISS
GO:0007283	Process	Spermatogenesis	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031047	Process	Gene silencing by RNA	ISS
GO:0034587	Process	PiRNA metabolic process	ISS
GO:0042802	Function	Identical protein binding	IPI	26567527, 32296183
GO:0043046	Process	DNA methylation involved in gamete generation	ISS
GO:0045070	Process	Positive regulation of viral genome replication	IMP	26567527
GO:0051321	Process	Meiotic cell cycle	ISS
GO:0051879	Function	Hsp90 protein binding	ISS

Other IDs

• MIM: 604839
• HGNC: 3722
• e!Ensembl: ENSG00000077800

Protein

• UniProt ID: O75344
• Protein name: Inactive peptidyl-prolyl cis-trans isomerase FKBP6 (Inactive PPIase FKBP6) (36 kDa FK506-binding protein) (36 kDa FKBP) (FKBP-36) (FK506-binding protein 6) (FKBP-6) (Immunophilin FKBP36)
• Protein 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, whic
• PDB: 3B7X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00254	FKBP_C	48 → 140	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
• Sequence:

  MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVK
  YSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGT
  LGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNY
  LFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNLSFTYLKLDRPTIALC
  YGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCY
  RDYVDKEKEMWHRMFAPCGDGSTAGES

• Sequence length: 327

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Williams syndrome	Williams Syndrome		15770126	ClinVar
Spermatogenic Failure	spermatogenic failure 77			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Associate	38092774
Heart Defects Congenital	Associate	22318994
Multiple Sclerosis	Associate	29873607
Neoplasms	Associate	24241165
Uterine Cervical Dysplasia	Associate	24241165
Uterine Cervical Neoplasms	Associate	24241165