• Gene id: 56882

Gene Summary

• Gene Symbol: CDC42SE1   Gene   UCSC   Ensembl
• Aliases: SCIP1, SPEC1
• Gene name: CDC42 small effector 1
• Alternate names: CDC42 small effector protein 1, 1300002M12Rik, CDC42-binding protein SCIP1, signaling molecule SPEC1 beta, small effector of CDC42 protein 1, small protein effector 1 of Cdc42,
• Gene location: 1q21.3 (151059648: 151050970)     Exons: 6     NC_000001.11

Protein Summary

• Protein general information: Q9NRR8  
  • Name: CDC42 small effector protein 1 (CDC42 binding protein SCIP1) (Small effector of CDC42 protein 1)
  • Length: 79  
  • Mass: 8925
  • Tissue specificity: Widely expressed. Expressed at higher level in T-lymphocytes, dendritic and whole blood cells. {ECO
• Sequence:

  MSEFWHKLGCCVVEKPQPKKKRRRIDRTMIGEPMNFVHLTHIGSGEMGAGDGLAMTGAVQEQMRSKGNRDRPWSN
  SRGL

• Structural information:
  • Protein Domains: (30..4-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057"-)
  • Interpro: IPR000095  IPR036936  IPR039056  
  • Prosite: PS50108
  • STRING: ENSP00000475845
• Other Databases: GeneCards:  CDC42SE1  Malacards:  CDC42SE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005095	GTPase inhibitor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0034260	negative regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R