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

    Gene ID: 11135, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:17014
    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
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    Genomic context

    See CDC42EP1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37560480..37569405)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38021773..38030667)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37956487..37965412)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37865281-37865782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37880249-37880758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882293-37882802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882803-37883314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37883315-37883824 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898069-37898668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898669-37899266 Neighboring gene caspase recruitment domain family member 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904132-37904960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904961-37905787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37907945-37908458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37934271-37934772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37934773-37935272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37948043-37948624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37948625-37949206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37957123-37957729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37957730-37958337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37958338-37958944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37959472-37959972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37959973-37960473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37963831-37964482 Neighboring gene HNF1 motif-containing MPRA enhancer 93 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37965972-37966480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37967120-37967620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37967621-37968121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13687 Neighboring gene galectin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18977 Neighboring gene Sharpr-MPRA regulatory region 7746 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38005225-38005846 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38029311-38030184

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC15316

    Gene Ontology Provided by GOA

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

    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)

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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_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
      A8K825, Q00587, Q96GN1
      Related
      ENSP00000249014.4, ENST00000249014.5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37560480..37569405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38021773..38030667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)