• Gene id: 11135

Gene Summary

• Gene Symbol: CDC42EP1   Gene   UCSC   Ensembl
• Aliases: BORG5, CEP1, MSE55
• Gene name: CDC42 effector protein 1
• Alternate names: cdc42 effector protein 1, 55 kDa bone marrow stromal/endothelial cell protein, CDC42 effector protein (Rho GTPase binding) 1, binder of Rho GTPases 5, serum constituent protein, serum protein MSE55,
• Gene location: 22q13.1 (37560479: 37569404)     Exons: 2     NC_000022.11
• Gene summary(Entrez): CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. Thi
• OMIM: 606084

Protein Summary

• Protein general information: Q00587  
  • Name: Cdc42 effector protein 1 (Binder of Rho GTPases 5) (Serum protein MSE55)
  • Length: 391  
  • Mass: 40295
  • Tissue specificity: Endothelial and bone marrow stromal cells.
• Sequence:

  MPGPQGGRGAATMSLGKLSPVGWVSSSQGKRRLTADMISHPLGDFRHTMHVGRGGDVFGDTSFLSNHGGSSGSTH
  RSPRSFLAKKLQLVRRVGAPPRRMASPPAPSPAPPAISPIIKNAISLPQLNQAAYDSLVVGKLSFDSSPTSSTDG
  HSSYGLDSGFCTISRLPRSEKPHDRDRDGSFPSEPGLRRSDSLLSFRLDLDLGPSLLSELLGVMSLPEAPAAETP
  APAANPPAPTANPTGPAANPPATTANPPAPAANPSAPAATPTGPAANPPAPAASSTPHGHCPNGVTAGLGPVAEV
  KSSPVGGGPRGPAGPALGRHWGAGWDGGHHYPEMDARQERVEVLPQARASWESLDEEWRAPQAGSRTPVPSTVQA
  NTFEFADAEEDDEVKV

• Structural information:
  • Protein Domains: (38..5-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057"-)
  • Interpro: IPR029273  IPR000095  
  • Prosite: PS50108
  • STRING: ENSP00000249014
• Other Databases: GeneCards:  CDC42EP1  Malacards:  CDC42EP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008360	regulation of cell shape	IBA	biological process
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IBA	biological process
GO:0030838	positive regulation of actin filament polymerization	IBA	biological process
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IDA	biological process
GO:0008360	regulation of cell shape	IDA	biological process
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
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)