• Gene id: 5303

Gene Summary

• Gene Symbol: PIN4   Gene   UCSC   Ensembl
• Aliases: EPVH, PAR14, PAR17
• Gene name: peptidylprolyl cis/trans isomerase, NIMA-interacting 4
• Alternate names: peptidyl-prolyl cis-trans isomerase NIMA-interacting 4, PPIase PIN4, eukaryotic parvulin homolog, hEPVH, hPar14, hPar17, parvulin, parvulin-14, parvulin-17, peptidyl-prolyl cis-trans isomerase Pin4, peptidyl-prolyl cis/trans isomerase EPVH, protein (peptidylprolyl c,
• Gene location: Xq13.1 (72181675: 72263963)     Exons: 5     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ri
• OMIM: 300252

Protein Summary

• Protein general information: Q9Y237  
  • Name: Peptidyl prolyl cis trans isomerase NIMA interacting 4 (EC 5.2.1.8) (Parvulin 14) (Par14) (hPar14) (Parvulin 17) (Par17) (hPar17) (Peptidyl prolyl cis trans isomerase Pin4) (PPIase Pin4) (Peptidyl prolyl cis/trans isomerase EPVH) (hEPVH) (Rotamase Pin4)
  • Length: 131  
  • Mass: 13810
  • Tissue specificity: Isoform 2 is much more stable than isoform 1 (at protein level). Ubiquitous. Isoform 1 and isoform 2 are expressed in kidney, liver, blood vessel, brain, mammary gland, skeletal muscle, small intestine and submandibularis. Isoform 1 tr
• Sequence:

  MPPKGKSGSGKAGKGGAASGSDSADKKAQGPKGGGNAVKVRHILCEKHGKIMEAMEKLKSGMRFNEVAAQYSEDK
  ARQGGDLGWMTRGSMVGPFQEAAFALPVSGMDKPVFTDPPVKTKFGYHIIMVEGRK

• Structural information:
  • Protein Domains: (35..12-)
    (/note="PpiC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00278"-)
  • Interpro: IPR000297  
  • Prosite: PS50198
  • PDB: 1EQ3 1FJD 3UI4 3UI5 3UI6
  • PDBsum: 1EQ3 1FJD 3UI4 3UI5 3UI6
  • DIP: 50838
  • STRING: ENSP00000362773
• Other Databases: GeneCards:  PIN4  Malacards:  PIN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	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:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	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:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881