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] See more...

Aliases for CDC42EP1 Gene

Aliases for CDC42EP1 Gene

  • CDC42 Effector Protein 1 2 3 5
  • Binder Of Rho GTPases 5 2 3 4
  • MSE55 2 3 4
  • CEP1 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
  • Cdc42 Effector Protein 1 3 4
  • Serum Protein MSE55 3 4
  • BORG5 3 4
  • CDC42EP1 5
  • Borg5 2

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 Actin Nucleation by ARP-WASP Complex and ERK Signaling. Gene Ontology (GO) annotations related to this gene include GTP-Rho binding. An important paralog of this gene is CDC42EP4.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CDC42EP1 Gene

Genomics for CDC42EP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDC42EP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC42EP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC42EP1

Top Transcription factor binding sites by QIAGEN in the CDC42EP1 gene promoter:
  • AML1a
  • c-Myc
  • C/EBPbeta
  • HNF-4alpha1
  • Max
  • NF-kappaB
  • NF-kappaB1
  • STAT5A
  • XBP-1
  • ZIC2

Genomic Locations for CDC42EP1 Gene

Latest Assembly
chr22:37,560,480-37,569,405
(GRCh38/hg38)
Size:
8,926 bases
Orientation:
Plus strand

Previous Assembly
chr22:37,956,487-37,965,412
(GRCh37/hg19 by Entrez Gene)
Size:
8,926 bases
Orientation:
Plus strand

chr22:37,956,454-37,965,412
(GRCh37/hg19 by Ensembl)
Size:
8,959 bases
Orientation:
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:
    Q00587-BORG5_HUMAN
    Recommended name:
    Cdc42 effector protein 1
    Protein Accession:
    Q00587
    Secondary Accessions:
    • A8K825
    • Q96GN1

    Protein attributes for CDC42EP1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for CDC42EP1 Gene

Post-translational modifications for CDC42EP1 Gene

  • Ubiquitination at Lys30
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC42EP1 Gene

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for CDC42EP1

No data available for DME Specific Peptides for CDC42EP1 Gene

Domains & Families for CDC42EP1 Gene

Gene Families for CDC42EP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CDC42EP1 Gene

Suggested Antigen Peptide Sequences for CDC42EP1 Gene

GenScript: Design optimal peptide antigens:
  • Serum protein MSE55 (BORG5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00587

UniProtKB/Swiss-Prot:

BORG5_HUMAN :
  • The CRIB domain mediates interaction with CDC42.
  • Belongs to the BORG/CEP family.
Domain:
  • The CRIB domain mediates interaction with CDC42.
Family:
  • 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.

Phenotypes From GWAS Catalog for CDC42EP1 Gene

Gene Ontology (GO) - Molecular Function for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0031267 small GTPase binding IBA --
GO:0098641 cadherin binding involved in cell-cell adhesion HDA 25468996
genes like me logo Genes that share ontologies with CDC42EP1: view
genes like me logo Genes that share phenotypes with CDC42EP1: view

miRNA for CDC42EP1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42EP1

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

COMPARTMENTS
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 2
extracellular 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Plasma membrane (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0005912 adherens junction HDA 25468996
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with CDC42EP1: view

Pathways & Interactions for CDC42EP1 Gene

PathCards logo

SuperPathways for CDC42EP1 Gene

SuperPathway Contained pathways
1 ERK Signaling
.61
2 Actin Nucleation by ARP-WASP Complex
.35
genes like me logo Genes that share pathways with CDC42EP1: view

Pathways by source for CDC42EP1 Gene

2 Qiagen pathways for CDC42EP1 Gene
  • Rho Family GTPases
  • RhoA Pathway

SIGNOR curated interactions for CDC42EP1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0008360 regulation of cell shape IDA 11035016
GO:0030838 positive regulation of actin filament polymerization IBA 21873635
GO:0031274 positive regulation of pseudopodium assembly IBA,IDA 11035016
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with CDC42EP1: view

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

mRNA/cDNA for CDC42EP1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42EP1

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
CDC42EP1

Expression for CDC42EP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CDC42EP1 Gene



Protein tissue co-expression partners for CDC42EP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC42EP1

SOURCE GeneReport for Unigene cluster for CDC42EP1 Gene:

Hs.225356

mRNA Expression by UniProt/SwissProt for CDC42EP1 Gene:

Q00587-BORG5_HUMAN
Tissue specificity: Endothelial and bone marrow stromal cells.

Evidence on tissue expression from TISSUES for CDC42EP1 Gene

  • Liver(4.3)
  • Pancreas(4.3)
  • Blood(4.3)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with CDC42EP1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia CDC42EP1 29 30
  • 99.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDC42EP1 29 30
  • 85.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDC42EP1 29 30
  • 83.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdc42ep1 29
  • 78.71 (n)
Mouse
(Mus musculus)
Mammalia Cdc42ep1 29 16 30
  • 77.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CDC42EP1 30
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CDC42EP1 30
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDC42EP1 29 30
  • 67.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDC42EP1 30
  • 33 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CDC42EP1 (1 of 2) 30
  • 46 (a)
OneToMany
CDC42EP1 (2 of 2) 30
  • 32 (a)
OneToMany
Species where no ortholog for CDC42EP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for CDC42EP1 (if available)
TreeFam:
Gene Tree for CDC42EP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42EP1: view image
Alliance of Genome Resources:
Additional Orthologs for CDC42EP1

Paralogs for CDC42EP1 Gene

Paralogs for CDC42EP1 Gene

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

  • BORG5_HUMAN
  • B0QYC6_HUMAN
  • B0QYC7_HUMAN
  • B0QYC8_HUMAN
genes like me logo Genes that share paralogs with CDC42EP1: view

Variants for CDC42EP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC42EP1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs115843472 Benign: not provided 37,568,196(+) G/A
NM_152243.3(CDC42EP1):c.552G>A (p.Glu184=)
SYNONYMOUS
rs142182487 Benign: not provided 37,568,760(+) A/G
NM_152243.3(CDC42EP1):c.1116A>G (p.Thr372=)
SYNONYMOUS
rs73418177 Benign: not provided 37,566,550(+) C/T
NM_152243.3(CDC42EP1):c.201C>T (p.His67=)
SYNONYMOUS
rs73418183 Benign: not provided 37,568,224(+) T/C
NM_152243.3(CDC42EP1):c.580T>C (p.Leu194=)
SYNONYMOUS
rs77148107 Benign: not provided 37,568,568(+) T/C
NM_152243.3(CDC42EP1):c.924T>C (p.Gly308=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDC42EP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CDC42EP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42EP1
Leiden Open Variation Database (LOVD)
CDC42EP1

SNP Genotyping and Copy Number Assays for research

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

Disorders for CDC42EP1 Gene

Additional Disease Information for CDC42EP1

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 PD … Spiegel S (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4
  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 WF … Wicha MS (The Journal of biological chemistry 1992) 2 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CDC42EP1 Gene

Sources for CDC42EP1 Gene