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

Gene ID: 11135, updated on 7-Jun-2020

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:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37560480..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

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
adherens junction HDA PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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, ENST00000249014.5
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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