Aliases for CDC42SE1 Gene

Aliases for CDC42SE1 Gene

  • CDC42 Small Effector 1 2 3 5
  • Small Effector Of CDC42 Protein 1 3 4
  • CDC42 Small Effector Protein 1 3 4
  • CDC42-Binding Protein SCIP1 3 4
  • SPEC1 3 4
  • Small Protein Effector 1 Of Cdc42 3
  • Signaling Molecule SPEC1 Beta 3
  • 1300002M12Rik 3
  • SCIP1 3

External Ids for CDC42SE1 Gene

Previous GeneCards Identifiers for CDC42SE1 Gene

  • GC00U916969
  • GC01M147837
  • GC01M149290
  • GC01M151023
  • GC01M122400

Summaries for CDC42SE1 Gene

GeneCards Summary for CDC42SE1 Gene

CDC42SE1 (CDC42 Small Effector 1) is a Protein Coding gene. Diseases associated with CDC42SE1 include Renal Cell Carcinoma, Papillary, 1. Among its related pathways are Actin Nucleation by ARP-WASP Complex and G-protein signaling RAC1 in cellular process. Gene Ontology (GO) annotations related to this gene include structural molecule activity and GTPase inhibitor activity. An important paralog of this gene is CDC42SE2.

UniProtKB/Swiss-Prot Summary for CDC42SE1 Gene

  • Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.

Additional gene information for CDC42SE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC42SE1 Gene

Genomics for CDC42SE1 Gene

GeneHancer (GH) Regulatory Elements for CDC42SE1 Gene

Promoters and enhancers for CDC42SE1 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 CDC42SE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDC42SE1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1
  • HSF1 (long)
  • HSF1short
  • POU2F1a

Genomic Locations for CDC42SE1 Gene

Genomic Locations for CDC42SE1 Gene
chr1:151,050,971-151,070,325
(GRCh38/hg38)
Size:
19,355 bases
Orientation:
Minus strand
chr1:151,023,447-151,042,801
(GRCh37/hg19)
Size:
19,355 bases
Orientation:
Minus strand

Genomic View for CDC42SE1 Gene

Genes around CDC42SE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42SE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42SE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42SE1 Gene

Proteins for CDC42SE1 Gene

  • Protein details for CDC42SE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRR8-C42S1_HUMAN
    Recommended name:
    CDC42 small effector protein 1
    Protein Accession:
    Q9NRR8
    Secondary Accessions:
    • D3DV12
    • Q9HB17
    • Q9NQR2

    Protein attributes for CDC42SE1 Gene

    Size:
    79 amino acids
    Molecular mass:
    8925 Da
    Quaternary structure:
    • Interacts with CDC42 (in GTP-bound form). Interacts weakly with RAC1 and not at all with RHOA.

    Alternative splice isoforms for CDC42SE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDC42SE1 Gene

Post-translational modifications for CDC42SE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDC42SE1 Gene

No data available for DME Specific Peptides for CDC42SE1 Gene

Domains & Families for CDC42SE1 Gene

Gene Families for CDC42SE1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDC42SE1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC42SE1 Gene

GenScript: Design optimal peptide antigens:
  • Small effector of CDC42 protein 1 (C42S1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRR8

UniProtKB/Swiss-Prot:

C42S1_HUMAN :
  • The CRIB domain mediates interaction with CDC42.
  • Belongs to the CDC42SE/SPEC family.
Domain:
  • The CRIB domain mediates interaction with CDC42.
Family:
  • Belongs to the CDC42SE/SPEC family.
genes like me logo Genes that share domains with CDC42SE1: view

Function for CDC42SE1 Gene

Molecular function for CDC42SE1 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.

Phenotypes From GWAS Catalog for CDC42SE1 Gene

Gene Ontology (GO) - Molecular Function for CDC42SE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005095 GTPase inhibitor activity TAS 10816584
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with CDC42SE1: view
genes like me logo Genes that share phenotypes with CDC42SE1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42SE1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC42SE1 Gene

Localization for CDC42SE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42SE1 Gene

Cytoplasm, cytoskeleton. Cell membrane; Lipid-anchor. Note=Recruited to the activated TCR prior actin polymerization.

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 CDC42SE1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 2
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42SE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CDC42SE1: view

Pathways & Interactions for CDC42SE1 Gene

PathCards logo

SuperPathways for CDC42SE1 Gene

genes like me logo Genes that share pathways with CDC42SE1: view

Pathways by source for CDC42SE1 Gene

1 GeneGo (Thomson Reuters) pathway for CDC42SE1 Gene
1 Qiagen pathway for CDC42SE1 Gene
  • CDC42 Pathway

Gene Ontology (GO) - Biological Process for CDC42SE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0007165 signal transduction TAS 10816584
GO:0008360 regulation of cell shape IEA --
GO:0034260 negative regulation of GTPase activity IEA --
GO:0035023 regulation of Rho protein signal transduction IEA --
genes like me logo Genes that share ontologies with CDC42SE1: view

No data available for SIGNOR curated interactions for CDC42SE1 Gene

Drugs & Compounds for CDC42SE1 Gene

(1) Drugs for CDC42SE1 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 CDC42SE1: view

Transcripts for CDC42SE1 Gene

mRNA/cDNA for CDC42SE1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC42SE1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42SE1 Gene

No ASD Table

Relevant External Links for CDC42SE1 Gene

GeneLoc Exon Structure for
CDC42SE1
ECgene alternative splicing isoforms for
CDC42SE1

Expression for CDC42SE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDC42SE1 Gene

mRNA differential expression in normal tissues according to GTEx for CDC42SE1 Gene

This gene is overexpressed in Whole Blood (x11.0).

Protein differential expression in normal tissues from HIPED for CDC42SE1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.1), Placenta (23.9), and Milk (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42SE1 Gene



Protein tissue co-expression partners for CDC42SE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDC42SE1 Gene:

CDC42SE1

SOURCE GeneReport for Unigene cluster for CDC42SE1 Gene:

Hs.22065

mRNA Expression by UniProt/SwissProt for CDC42SE1 Gene:

Q9NRR8-C42S1_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in T-lymphocytes, dendritic and whole blood cells.

Evidence on tissue expression from TISSUES for CDC42SE1 Gene

  • Skin(4.3)
  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with CDC42SE1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42SE1 Gene

Orthologs for CDC42SE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDC42SE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDC42SE1 33 32
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CDC42SE1 33 32
  • 97.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDC42SE1 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDC42SE1 33 32
  • 94.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc42se1 17 33 32
  • 91.56 (n)
rat
(Rattus norvegicus)
Mammalia Cdc42se1 32
  • 91.14 (n)
chicken
(Gallus gallus)
Aves CDC42SE1 33 33
  • 83 (a)
OneToMany
LOC100859506 32
  • 76.07 (n)
lizard
(Anolis carolinensis)
Reptilia CDC42SE1 33
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc42se1 32
  • 75.88 (n)
zebrafish
(Danio rerio)
Actinopterygii cdc42se1 33 32
  • 71.87 (n)
OneToOne
wufa55c04 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1155 32
fruit fly
(Drosophila melanogaster)
Insecta Spec2 33
  • 33 (a)
OneToMany
Species where no ortholog for CDC42SE1 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDC42SE1 Gene

ENSEMBL:
Gene Tree for CDC42SE1 (if available)
TreeFam:
Gene Tree for CDC42SE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42SE1: view image

Paralogs for CDC42SE1 Gene

Paralogs for CDC42SE1 Gene

(1) SIMAP similar genes for CDC42SE1 Gene using alignment to 1 proteins:

  • C42S1_HUMAN
genes like me logo Genes that share paralogs with CDC42SE1: view

Variants for CDC42SE1 Gene

Sequence variations from dbSNP and Humsavar for CDC42SE1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000487622 -- 151,053,455(-) C/A intron_variant
rs1000737106 -- 151,057,297(-) G/A intron_variant
rs1000895962 -- 151,061,342(-) C/T upstream_transcript_variant
rs1001518189 -- 151,059,272(-) C/T intron_variant
rs1001569194 -- 151,058,874(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDC42SE1 Gene

Variant ID Type Subtype PubMed ID
nsv522840 CNV gain 19592680

Variation tolerance for CDC42SE1 Gene

Residual Variation Intolerance Score: 47.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42SE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42SE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42SE1 Gene

Disorders for CDC42SE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CDC42SE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
renal cell carcinoma, papillary, 1
  • rccp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDC42SE1

genes like me logo Genes that share disorders with CDC42SE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDC42SE1 Gene

Publications for CDC42SE1 Gene

  1. SPECs, small binding proteins for Cdc42. (PMID: 10816584) Pirone DM … Burbelo PD (The Journal of biological chemistry 2000) 2 3 4 56
  2. The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse. (PMID: 15840583) Ching KH … Burbelo PD (The Journal of biological chemistry 2005) 3 4 56
  3. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 56

Products for CDC42SE1 Gene

Sources for CDC42SE1 Gene