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Aliases for CDC42EP1 Gene

Aliases for CDC42EP1 Gene

  • CDC42 Effector Protein 1 2 3
  • CDC42 Effector Protein (Rho GTPase Binding) 1 2 3 5
  • Binder Of Rho GTPases 5 2 3 4
  • 55 KDa Bone Marrow Stromal/Endothelial Cell Protein 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 CDC42EP5.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42EP1 Gene

Genomics for CDC42EP1 Gene

Regulatory Elements for CDC42EP1 Gene

Promoters for CDC42EP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CDC42EP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDC42EP1 Gene

Chromosome:
22
Start:
37,559,778 bp from pter
End:
37,569,405 bp from pter
Size:
9,628 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

Proteomics data for CDC42EP1 Gene at MOPED

Post-translational modifications for CDC42EP1 Gene

  • Ubiquitination at Lys 30
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC42EP1 Gene

Antibody Products

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC42EP1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 CRIB domain.
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.

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
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

In Situ Assay Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for CDC42EP1 Gene COMPARTMENTS Subcellular localization image for CDC42EP1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
plasma membrane 5
cytosol 4
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for CDC42EP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015629 actin cytoskeleton IDA --
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:0031274 positive regulation of pseudopodium assembly IDA 11035016
GO:0043547 positive regulation of GTPase activity IBA --
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

Flow Cytometry 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
CDC42EP1
ECgene alternative splicing isoforms for
CDC42EP1

Expression for CDC42EP1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CDC42EP1 Gene



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.
genes like me logo Genes that share expression patterns with CDC42EP1: view

Protein tissue co-expression partners for CDC42EP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia CDC42EP1 35
  • 85.66 (n)
  • 83.24 (a)
CDC42EP1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDC42EP1 35
  • 83.33 (n)
  • 77.54 (a)
CDC42EP1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc42ep1 35
  • 77.23 (n)
  • 74.29 (a)
Cdc42ep1 16
Cdc42ep1 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDC42EP1 35
  • 99.05 (n)
  • 98.71 (a)
CDC42EP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdc42ep1 35
  • 78.71 (n)
  • 75.54 (a)
oppossum
(Monodelphis domestica)
Mammalia CDC42EP1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDC42EP1 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDC42EP1 35
  • 67.69 (n)
  • 64.62 (a)
CDC42EP1 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDC42EP1 36
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CDC42EP1 (1 of 2) 36
  • 46 (a)
OneToMany
CDC42EP1 (2 of 2) 36
  • 32 (a)
OneToMany
Species with no ortholog for CDC42EP1:
  • 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

ENSEMBL:
Gene Tree for CDC42EP1 (if available)
TreeFam:
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
rs2076087 -- 37,564,358(+) CGTCA(A/G)TTTGA intron-variant, upstream-variant-2KB
rs2076088 -- 37,564,718(+) gttac(G/T)tcact intron-variant, upstream-variant-2KB
rs2235335 -- 37,562,156(+) AAATC(C/G)TCTTC intron-variant, upstream-variant-2KB
rs2235336 -- 37,562,261(+) TTTCC(A/G)TCTGT intron-variant, upstream-variant-2KB
rs2235337 -- 37,562,305(+) TCCTG(A/G)GCAGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv829203 CNV Loss 20364138
nsv915028 CNV Loss 21882294
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

HapMap Linkage Disequilibrium report
CDC42EP1

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:
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 P.D. … Spiegel S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 67
  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
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PMID: 23383273) Yu C.C. … Chow L.P. (PLoS ONE 2013) 3
  5. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. (PMID: 23891004) Stehling O. … Lill R. (Cell Metab. 2013) 3

Products for CDC42EP1 Gene

Sources for CDC42EP1 Gene

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