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CDC42EP3 CDC42 effector protein 3 [ Homo sapiens (human) ]

Gene ID: 10602, updated on 1-Jun-2020

Summary

Official Symbol
CDC42EP3provided by HGNC
Official Full Name
CDC42 effector protein 3provided by HGNC
Primary source
HGNC:HGNC:16943
See related
Ensembl:ENSG00000163171 MIM:606133
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
UB1; CEP3; BORG2
Summary
This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression
Broad expression in prostate (RPKM 28.7), endometrium (RPKM 27.8) and 23 other tissues See more
Orthologs

Genomic context

See CDC42EP3 in Genome Data Viewer
Location:
2p22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (37641944..37672949, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37869025..37899678, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374464 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1475 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1476 Neighboring gene uncharacterized LOC107985870 Neighboring gene uncharacterized LOC105374465

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of CDC42 effector protein 3 (CDC42EP3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31353, FLJ46903

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-Rho binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeletal regulatory protein binding TAS
Traceable Author Statement
more info
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 
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 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cdc42 effector protein 3
Names
CDC42 effector protein (Rho GTPase binding) 3
CRIB-containing BORG2 protein
MSE55-related Cdc42-binding protein
MSE55-related protein
binder of Rho GTPases 2

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_001270436.2NP_001257365.1  cdc42 effector protein 3

    See identical proteins and their annotated locations for NP_001257365.1

    Status: REVIEWED

    Source sequence(s)
    AC006369
    Consensus CDS
    CCDS1791.1
    UniProtKB/Swiss-Prot
    Q9UKI2
    Related
    ENSP00000480549.1, ENST00000611976.1
    Conserved Domains (2) summary
    pfam14957
    Location:102253
    BORG_CEP; Cdc42 effector
    cl00113
    Location:3086
    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. NM_001270437.2NP_001257366.1  cdc42 effector protein 3

    See identical proteins and their annotated locations for NP_001257366.1

    Status: REVIEWED

    Source sequence(s)
    AC006369
    Consensus CDS
    CCDS1791.1
    UniProtKB/Swiss-Prot
    Q9UKI2
    Conserved Domains (2) summary
    pfam14957
    Location:102253
    BORG_CEP; Cdc42 effector
    cl00113
    Location:3086
    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. NM_001270438.2NP_001257367.1  cdc42 effector protein 3

    See identical proteins and their annotated locations for NP_001257367.1

    Status: REVIEWED

    Source sequence(s)
    AC006369
    Consensus CDS
    CCDS1791.1
    UniProtKB/Swiss-Prot
    Q9UKI2
    Related
    ENSP00000403298.1, ENST00000457889.1
    Conserved Domains (2) summary
    pfam14957
    Location:102253
    BORG_CEP; Cdc42 effector
    cl00113
    Location:3086
    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. NM_001371569.1NP_001358498.1  cdc42 effector protein 3

    Status: REVIEWED

    Source sequence(s)
    AC006369
  5. NM_001371570.1NP_001358499.1  cdc42 effector protein 3

    Status: REVIEWED

    Source sequence(s)
    AC006369
  6. NM_006449.5NP_006440.2  cdc42 effector protein 3

    See identical proteins and their annotated locations for NP_006440.2

    Status: REVIEWED

    Source sequence(s)
    AC006369
    Consensus CDS
    CCDS1791.1
    UniProtKB/Swiss-Prot
    Q9UKI2
    Related
    ENSP00000295324.3, ENST00000295324.4
    Conserved Domains (2) summary
    pfam14957
    Location:102253
    BORG_CEP; Cdc42 effector
    cl00113
    Location:3086
    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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    37641944..37672949 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532482.3XP_011530784.1  cdc42 effector protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011530784.1

    UniProtKB/Swiss-Prot
    Q9UKI2
    Conserved Domains (2) summary
    pfam14957
    Location:102253
    BORG_CEP; Cdc42 effector
    cl00113
    Location:3086
    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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