• Gene id: 55033

Gene Summary

• Gene Symbol: FKBP14   Gene   UCSC   Ensembl
• Aliases: EDSKMH, EDSKSCL2, FKBP22, IPBP12
• Gene name: FKBP prolyl isomerase 14
• Alternate names: peptidyl-prolyl cis-trans isomerase FKBP14, 22 kDa FK506-binding protein, 22 kDa FKBP, FK506 binding protein 14, 22 kDa, FK506-binding protein 14, FKBP-22, PPIase FKBP14, rotamase,
• Gene location: 7p14.3 (86617940: 86620961)     Exons: 3     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in
• OMIM: 614505

Protein Summary

• Protein general information: Q9NWM8  
  • Name: Peptidyl prolyl cis trans isomerase FKBP14 (PPIase FKBP14) (EC 5.2.1.8) (22 kDa FK506 binding protein) (22 kDa FKBP) (FKBP 22) (FK506 binding protein 14) (FKBP 14) (Rotamase)
  • Length: 211  
  • Mass: 24172
• Sequence:

  MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPI
  WFTLGILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLN
  DDWKLSKDEVKAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL

• Structural information:
  • Protein Domains: (45..13-)
    (/note="PPIase-FKBP-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00277-)
    (135..17-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (179..21-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR001179  
  • Prosite: PS00018 PS50222 PS00014 PS50059
  • PDB: 4DIP 4MSP
  • PDBsum: 4DIP 4MSP
  • STRING: ENSP00000222803
• Other Databases: GeneCards:  FKBP14  Malacards:  FKBP14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	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

Diseases

Associated diseases	References
Ehlers-Danlos syndrome kyphoscoliosis type	KEGG:H02245
Ehlers-Danlos syndrome kyphoscoliosis type	KEGG:H02245
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881