• Gene id: 23770

Gene Summary

• Gene Symbol: FKBP8   Gene   UCSC   Ensembl
• Aliases: FKBP38, FKBPr38
• Gene name: FKBP prolyl isomerase 8
• Alternate names: peptidyl-prolyl cis-trans isomerase FKBP8, 38 kDa FK506-binding protein, 38 kDa FKBP, FK506 binding protein 8, 38kDa, FK506-binding protein 8, FKBP-38, FKBP-8, PPIase FKBP8, hFKBP38, rotamase,
• Gene location: 19p13.11 (18543572: 18531762)     Exons: 9     NC_000019.10
• 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. Unlike the other members of the family, this encoded protein doe
• OMIM: 610672

Protein Summary

• Protein general information: Q14318  
  • Name: Peptidyl prolyl cis trans isomerase FKBP8 (PPIase FKBP8) (EC 5.2.1.8) (38 kDa FK506 binding protein) (38 kDa FKBP) (FKBP 38) (hFKBP38) (FK506 binding protein 8) (FKBP 8) (FKBPR38) (Rotamase)
  • Length: 412  
  • Mass: 44562
  • Tissue specificity: Widely expressed. Highest levels seen in the brain. Highly abundant in the retina. {ECO
• Sequence:

  MASCAEPSEPSAPLPAGVPPLEDFEVLDGVEDAEGEEEEEEEEEEEDDLSELPPLEDMGQPPAEEAEQPGALARE
  FLAAMEPEPAPAPAPEEWLDILGNGLLRKKTLVPGPPGSSRPVKGQVVTVHLQTSLENGTRVQEEPELVFTLGDC
  DVIQALDLSVPLMDVGETAMVTADSKYCYGPQGRSPYIPPHAALCLEVTLKTAVDGPDLEMLTGQERVALANRKR
  ECGNAHYQRADFVLAANSYDLAIKAITSSAKVDMTFEEEAQLLQLKVKCLNNLAASQLKLDHYRAALRSCSLVLE
  HQPDNIKALFRKGKVLAQQGEYSEAIPILRAALKLEPSNKTIHAELSKLVKKHAAQRSTETALYRKMLGNPSRLP
  AKCPGKGAWSIPWKWLFGATAVALGGVALSVVIAARN

• Structural information:
  • Protein Domains: (120..20-)
    (/note="PPIase-FKBP-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00277"-)
  • Interpro: IPR001179  IPR013026  IPR011990  IPR013105  IPR019734  
  • Prosite: PS50059 PS50005 PS50293
  • PDB: 2AWG 2D9F 2F2D 2MF9 3EY6 5MGX
  • PDBsum: 2AWG 2D9F 2F2D 2MF9 3EY6 5MGX
  • DIP: 42200
  • STRING: ENSP00000476767
• Other Databases: GeneCards:  FKBP8  Malacards:  FKBP8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0006457	protein folding	IMP	biological process
GO:0044183	protein folding chaperone	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical 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: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: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: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: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: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:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0030510	regulation of BMP signaling pathway	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0021915	neural tube development	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0006457	protein folding	IEA	biological process
GO:0044183	protein folding chaperone	IEA	molecular function
GO:0035264	multicellular organism growth	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005740	mitochondrial envelope	IEA	cellular component
GO:0001708	cell fate specification	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0097718	disordered domain specific binding	IPI	molecular function
GO:0032991	protein-containing complex	IMP	cellular component
GO:0001933	negative regulation of protein phosphorylation	IMP	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq