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    CDC42EP5 CDC42 effector protein 5 [ Homo sapiens (human) ]

    Gene ID: 148170, updated on 10-Dec-2024

    Summary

    Official Symbol
    CDC42EP5provided by HGNC
    Official Full Name
    CDC42 effector protein 5provided by HGNC
    Primary source
    HGNC:HGNC:17408
    See related
    Ensembl:ENSG00000167617 MIM:609171; AllianceGenome:HGNC:17408
    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
    CEP5; Borg3
    Summary
    Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in colon (RPKM 54.5), prostate (RPKM 21.2) and 11 other tissues See more
    Orthologs
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    Genomic context

    See CDC42EP5 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54465026..54473296, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57558310..57566553, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54976210..54984443, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LENG8 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54960127-54961034 Neighboring gene leukocyte receptor cluster member 8 Neighboring gene leukocyte receptor cluster member 9 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55018677-55019177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55020667-55021482 Neighboring gene leukocyte associated immunoglobulin like receptor 2 Neighboring gene uncharacterized LOC105372460 Neighboring gene MPRA-validated peak3555 silencer

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Interactions

    General gene information

    Clone Names

    • MGC21945, MGC71153

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables small GTPase binding  
    enables small GTPase binding PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    is_active_in cytoskeleton  
    located_in cytosol  
    located_in endomembrane system  
    located_in membrane PubMed 
    is_active_in plasma membrane  

    General protein information

    Preferred Names
    cdc42 effector protein 5
    Names
    CDC42 effector protein (Rho GTPase binding) 5
    binder of Rho GTPases 3

    NCBI Reference Sequences (RefSeq)

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    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_145057.4 → NP_659494.2  cdc42 effector protein 5

      See identical proteins and their annotated locations for NP_659494.2

      Status: REVIEWED

      Source sequence(s)
      AC245884, AI379873, BC024327, BC065910, DA867588
      Consensus CDS
      CCDS12896.1
      UniProtKB/Swiss-Prot
      B0VJZ2, Q6NZY7, Q8TB51
      Related
      ENSP00000301200.2, ENST00000301200.3
      Conserved Domains (2) summary
      pfam14957
      Location:78 → 108
      BORG_CEP; Cdc42 effector
      cl00113
      Location:23 → 49
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54465026..54473296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      371539..379710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      369718..377951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      447324..455557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57558310..57566553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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