CDC42EP3 - CDC42 effector protein 3 Gene

Also Known as UB1; CEP3; BORG2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10602

About CDC42EP3

Cytogenetic location: 2p22.2 Genomic coordinates (GRCh38): 2:37,641,944-37,672,949 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues and 5 paralogues. Broad expression in prostate (RPKM 28.7), endometrium (RPKM 27.8) and 23 other tissues.

Summary

This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin Cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

CDC42EP3 Products (6)

mRNA Protein Name
NM_001270436.2 NP_001257365.1 cdc42 effector protein 3
NM_001270437.2 NP_001257366.1 cdc42 effector protein 3
NM_001270438.2 NP_001257367.1 cdc42 effector protein 3
NM_001371569.1 NP_001358498.1 cdc42 effector protein 3
NM_001371570.1 NP_001358499.1 cdc42 effector protein 3
NM_006449.5 NP_006440.2 cdc42 effector protein 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24947832 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CDC42EP3 Protein Structure

PBD

PBD: P21-Rho-binding domain (30 - 81)

BORG_CEP

BORG_CEP: Cdc42 effector (102 - 253)

  • 0
  • 100
  • 200
  • 254 a.a.
Protein Preferred Names Protein Names

cdc42 effector protein 3

  • CDC42 effector protein (Rho GTPase binding) 3

CDC42EP3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CDC42EP3 Q9UKI2 LRRK2 Homo sapiens Q5S007 24947832
Intra
CDC42EP3 Q9UKI2 LRRK2 Homo sapiens Q5S007 29513927
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Vertebrobasilar Insufficiency
  • Vertebro-Basilar Insufficiency

  • Vertebrobasilar Arterial Insufficiency

  • Vertebrobasilar Artery Syndrome

Retinitis Pigmentosa 11
  • RP11

  • Retinitis Pigmentosa-11

  • Retinitis Pigmentosa, Type 11

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris CDC42EP3 VGNC VGNC:39002
Rattus norvegicus CDC42EP3 RGD RGD:1305858
Macaca mulatta CDC42EP3 VGNC VGNC:70777
Mus musculus CDC42EP3 MGD MGI:2384718
Bos taurus CDC42EP3 VGNC VGNC:27074
Felis catus CDC42EP3 VGNC VGNC:60661
Others CDC42EP3 NCBI