• Gene id: 5121

Gene Summary

• Gene Symbol: PCP4   Gene   UCSC   Ensembl
• Aliases: PEP-19
• Gene name: Purkinje cell protein 4
• Alternate names: calmodulin regulator protein PCP4, brain specific polypeptide PEP19, brain-specific antigen PCP-4, brain-specific polypeptide PEP-19,
• Gene location: 21q22.2 (71062645: 71572086)     Exons: 36     NC_000004.12
• OMIM: 601629

Protein Summary

• Protein general information: P48539  
  • Name: Calmodulin regulator protein PCP4 (Brain specific polypeptide PEP 19) (Purkinje cell protein 4)
  • Length: 62  
  • Mass: 6791
• Sequence:

  MSERQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAAVAIQSQFRKFQKKKAGSQS

• Structural information:
  • Protein Domains: (39..6-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116"-)
  • Interpro: IPR033236  
  • PDB: 2N77
  • PDBsum: 2N77
  • STRING: ENSP00000329403
• Other Databases: GeneCards:  PCP4  Malacards:  PCP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005516	calmodulin binding	IDA	molecular function
GO:0099004	calmodulin dependent kinase signaling pathway	IMP	biological process
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005829	cytosol	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
leiomyoma	PMID:14561813
Huntington's disease	PMID:9697113
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)