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    CDC42EP1 CDC42 effector protein 1 [ Homo sapiens (human) ]

    Gene ID: 11135, updated on 7-Dec-2018

    Summary

    Official Symbol
    CDC42EP1provided by HGNC
    Official Full Name
    CDC42 effector protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17014
    See related
    Ensembl:ENSG00000128283 MIM:606084
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CEP1; BORG5; MSE55
    Summary
    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]
    Expression
    Ubiquitous expression in stomach (RPKM 41.4), gall bladder (RPKM 17.9) and 24 other tissues See more
    Orthologs

    Genomic context

    See CDC42EP1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (37559778..37569405)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37956471..37965412)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene caspase recruitment domain family member 10 Neighboring gene GATA motif-containing MPRA enhancer 128 Neighboring gene HNF1 motif-containing MPRA enhancer 93 Neighboring gene galectin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC15316

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP-Rho binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cadherin binding involved in cell-cell adhesion HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of pseudopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of pseudopodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cell-cell adherens junction HDA PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion HDA PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    cdc42 effector protein 1
    Names
    55 kDa bone marrow stromal/endothelial cell protein
    CDC42 effector protein (Rho GTPase binding) 1
    binder of Rho GTPases 5
    serum constituent protein
    serum protein MSE55

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_152243.3NP_689449.1  cdc42 effector protein 1

      See identical proteins and their annotated locations for NP_689449.1

      Status: REVIEWED

      Source sequence(s)
      BC009356, CR456524, DA047271
      Consensus CDS
      CCDS13949.1
      UniProtKB/Swiss-Prot
      Q00587
      Related
      ENSP00000249014.4, ENST00000249014.4
      Conserved Domains (2) summary
      pfam14957
      Location:117215
      BORG_CEP; Cdc42 effector
      cl00113
      Location:3764
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      37559778..37569405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724109.1XP_006724172.1  cdc42 effector protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006724172.1

      UniProtKB/Swiss-Prot
      Q00587
      Conserved Domains (2) summary
      pfam14957
      Location:117215
      BORG_CEP; Cdc42 effector
      cl00113
      Location:3764
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
    2. XM_006724108.1XP_006724171.1  cdc42 effector protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006724171.1

      UniProtKB/Swiss-Prot
      Q00587
      Conserved Domains (2) summary
      pfam14957
      Location:117215
      BORG_CEP; Cdc42 effector
      cl00113
      Location:3764
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
    3. XM_017028541.1XP_016884030.1  cdc42 effector protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q00587
      Conserved Domains (2) summary
      pfam14957
      Location:117215
      BORG_CEP; Cdc42 effector
      cl00113
      Location:3764
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
    4. XM_006724107.2XP_006724170.1  cdc42 effector protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006724170.1

      UniProtKB/Swiss-Prot
      Q00587
      Conserved Domains (2) summary
      pfam14957
      Location:117215
      BORG_CEP; Cdc42 effector
      cl00113
      Location:3764
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
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