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Aliases for CDC42EP1 Gene

Aliases for CDC42EP1 Gene

  • CDC42 Effector Protein 1 2 3 5
  • Binder Of Rho GTPases 5 2 3 4
  • 55 KDa Bone Marrow Stromal/Endothelial Cell Protein 2 3
  • CDC42 Effector Protein (Rho GTPase Binding) 1 2 3
  • Serum Constituent Protein 2 3
  • Serum Protein MSE55 3 4
  • BORG5 3 4
  • MSE55 3 4
  • CEP1 3 4

External Ids for CDC42EP1 Gene

Previous GeneCards Identifiers for CDC42EP1 Gene

  • GC22P034571
  • GC22P036199
  • GC22P036281
  • GC22P037956
  • GC22P020924

Summaries for CDC42EP1 Gene

Entrez Gene Summary for CDC42EP1 Gene

  • 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. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDC42EP1 Gene

CDC42EP1 (CDC42 Effector Protein 1) is a Protein Coding gene. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include GTP-Rho binding. An important paralog of this gene is CDC42EP4.

UniProtKB/Swiss-Prot for CDC42EP1 Gene

  • Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts.

Gene Wiki entry for CDC42EP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42EP1 Gene

Genomics for CDC42EP1 Gene

Regulatory Elements for CDC42EP1 Gene

Enhancers for CDC42EP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G037558 1.7 Ensembl ENCODE dbSUPER 20.3 +5.7 5744 13.7 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 LGALS2 CDC42EP1 GGA1 GCAT H1F0 LOC400927 ENSG00000273866
GH22G037550 1.5 Ensembl ENCODE dbSUPER 17.7 -7.5 -7515 2.9 PKNOX1 ATF1 ARNT SIN3A TCF12 ZNF121 ZNF766 GATA2 SP5 NCOA1 CDC42EP1 ENSG00000225867
GH22G037556 1.3 ENCODE dbSUPER 19.7 -2.3 -2283 1.6 HDGF ATF1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 CDC42EP1 LGALS2 ENSG00000225867
GH22G037498 1.6 Ensembl ENCODE dbSUPER 11.4 -57.9 -57901 6.8 HDGF PKNOX1 FOXA2 MLX ZFP64 SIN3A ARID4B DMAP1 YY1 SLC30A9 ENSG00000225867 CDC42EP1 ELFN2 ENSG00000243902 CYTH4 CARD10 BAIAP2L2 GC22P037518 MFNG
GH22G037496 1.4 Ensembl ENCODE dbSUPER 11.5 -62.5 -62477 2.2 HDGF ELF3 RB1 SIN3A ARID4B KLF17 RAD21 RARA GLIS2 GATA2 ENSG00000225867 CDC42EP1 ENSG00000243902 ELFN2 CYTH4 CARD10 MFNG GC22P037518
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDC42EP1 on UCSC Golden Path with GeneCards custom track

Promoters for CDC42EP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146024 1222 2001 HDGF FOXA2 MLX SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for CDC42EP1 Gene

37,559,778 bp from pter
37,569,405 bp from pter
9,628 bases
Plus strand

Genomic View for CDC42EP1 Gene

Genes around CDC42EP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42EP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42EP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42EP1 Gene

Proteins for CDC42EP1 Gene

  • Protein details for CDC42EP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cdc42 effector protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K825
    • Q96GN1

    Protein attributes for CDC42EP1 Gene

    391 amino acids
    Molecular mass:
    40295 Da
    Quaternary structure:
    • Interacts with RHOQ and CDC42, in a GTP-dependent manner.

    Alternative splice isoforms for CDC42EP1 Gene


neXtProt entry for CDC42EP1 Gene

Post-translational modifications for CDC42EP1 Gene

  • Ubiquitination at posLast=3030
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC42EP1 Gene

No data available for DME Specific Peptides for CDC42EP1 Gene

Domains & Families for CDC42EP1 Gene

Gene Families for CDC42EP1 Gene

Protein Domains for CDC42EP1 Gene


Suggested Antigen Peptide Sequences for CDC42EP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The CRIB domain mediates interaction with CDC42.
  • Belongs to the BORG/CEP family.
  • The CRIB domain mediates interaction with CDC42.
  • Belongs to the BORG/CEP family.
genes like me logo Genes that share domains with CDC42EP1: view

Function for CDC42EP1 Gene

Molecular function for CDC42EP1 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts.

Gene Ontology (GO) - Molecular Function for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 16189514
GO:0017049 GTP-Rho binding IBA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with CDC42EP1: view
genes like me logo Genes that share phenotypes with CDC42EP1: view

Animal Model Products

CRISPR Products

miRNA for CDC42EP1 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC42EP1 Gene

Localization for CDC42EP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42EP1 Gene

Endomembrane system; Peripheral membrane protein. Cytoplasm, cytoskeleton.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC42EP1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 4
mitochondrion 3
golgi apparatus 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IBA --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with CDC42EP1: view

Pathways & Interactions for CDC42EP1 Gene

genes like me logo Genes that share pathways with CDC42EP1: view

Pathways by source for CDC42EP1 Gene

2 Qiagen pathways for CDC42EP1 Gene

Gene Ontology (GO) - Biological Process for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IBA --
GO:0008360 regulation of cell shape IDA 11035016
GO:0030838 positive regulation of actin filament polymerization IBA --
GO:0031274 positive regulation of pseudopodium assembly IDA 11035016
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with CDC42EP1: view

No data available for SIGNOR curated interactions for CDC42EP1 Gene

Drugs & Compounds for CDC42EP1 Gene

(1) Drugs for CDC42EP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CDC42EP1: view

Transcripts for CDC42EP1 Gene

Unigene Clusters for CDC42EP1 Gene

CDC42 effector protein (Rho GTPase binding) 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42EP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6
SP1: - -
SP2: - - -
SP3: - -
SP4: -

Relevant External Links for CDC42EP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CDC42EP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDC42EP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDC42EP1 Gene

This gene is overexpressed in Bone (20.9), Pancreas (7.9), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CDC42EP1 Gene

Protein tissue co-expression partners for CDC42EP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDC42EP1 Gene:


SOURCE GeneReport for Unigene cluster for CDC42EP1 Gene:


mRNA Expression by UniProt/SwissProt for CDC42EP1 Gene:

Tissue specificity: Endothelial and bone marrow stromal cells.

Evidence on tissue expression from TISSUES for CDC42EP1 Gene

  • Pancreas(4.3)
  • Blood(4.2)
  • Liver(4.2)
  • Nervous system(3)
genes like me logo Genes that share expression patterns with CDC42EP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42EP1 Gene

Orthologs for CDC42EP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDC42EP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CDC42EP1 34 35
  • 99.05 (n)
(Bos Taurus)
Mammalia CDC42EP1 34 35
  • 85.66 (n)
(Canis familiaris)
Mammalia CDC42EP1 34 35
  • 83.33 (n)
(Rattus norvegicus)
Mammalia Cdc42ep1 34
  • 78.71 (n)
(Mus musculus)
Mammalia Cdc42ep1 34 16 35
  • 77.23 (n)
(Monodelphis domestica)
Mammalia CDC42EP1 35
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia CDC42EP1 35
  • 47 (a)
(Gallus gallus)
Aves CDC42EP1 34 35
  • 67.69 (n)
(Anolis carolinensis)
Reptilia CDC42EP1 35
  • 33 (a)
(Danio rerio)
Actinopterygii CDC42EP1 (1 of 2) 35
  • 46 (a)
CDC42EP1 (2 of 2) 35
  • 32 (a)
Species where no ortholog for CDC42EP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDC42EP1 Gene

Gene Tree for CDC42EP1 (if available)
Gene Tree for CDC42EP1 (if available)

Paralogs for CDC42EP1 Gene

Paralogs for CDC42EP1 Gene

(3) SIMAP similar genes for CDC42EP1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CDC42EP1: view

Variants for CDC42EP1 Gene

Sequence variations from dbSNP and Humsavar for CDC42EP1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000573568 -- 37,568,509(+) CCAAT(-/G)GGGTA reference, frameshift-variant
rs1000807351 -- 37,568,955(+) AGACA(C/T)GGGAG utr-variant-3-prime
rs1000963281 -- 37,564,306(+) TGGCA(C/T)CAGCT intron-variant, upstream-variant-2KB
rs1001007609 -- 37,559,714(+) CGGGG(G/T)GGGGG upstream-variant-2KB
rs1001090009 -- 37,569,208(+) GGACC(A/G)CCTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CDC42EP1 Gene

Variant ID Type Subtype PubMed ID
nsv1057617 CNV gain 25217958
nsv1059320 CNV loss 25217958
nsv829203 CNV loss 20364138
nsv834191 CNV loss 17160897

Variation tolerance for CDC42EP1 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDC42EP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42EP1 Gene

Disorders for CDC42EP1 Gene

Relevant External Links for CDC42EP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for CDC42EP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CDC42EP1 Gene

Publications for CDC42EP1 Gene

  1. MSE55, a Cdc42 effector protein, induces long cellular extensions in fibroblasts. (PMID: 10430899) Burbelo P.D. … Spiegel S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 64
  2. cDNA cloning and molecular characterization of MSE55, a novel human serum constituent protein that displays bone marrow stromal/endothelial cell-specific expression. (PMID: 1629197) Bahou W.F. … Wicha M.S. (J. Biol. Chem. 1992) 2 3 4 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CDC42EP1 Gene

Sources for CDC42EP1 Gene

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