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

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: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37560480..37569405)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38021773..38030667)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37956487..37965412)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Salmonella engages CDC42 effector protein 1 for intracellular invasion.
Title: Salmonella engages CDC42 effector protein 1 for intracellular invasion.
hsa_circ_0005991 promotes epithelial-mesenchymal transition by regulating miR-30b-3p/Cdc42EP1 axis in ovary endometriosis.
Title: hsa_circ_0005991 promotes epithelial-mesenchymal transition by regulating miR-30b-3p/Cdc42EP1 axis in ovary endometriosis.
Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling.
Title: The Borg family of Cdc42 effector proteins Cdc42EP1-5.
CDC42EP1 activation is required for mannose receptor-mediated phagocytosis by alveolar macrophages.
Title: Cdc42 and RhoB activation are required for mannose receptor-mediated phagocytosis by human alveolar macrophages.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M88338 (e-PCR)
- UniSTS:53003

STS-R52295 (e-PCR)
- UniSTS:81059

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding involved in cell-cell adhesion	HDA more info	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 more info	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 more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_152243.3 → NP_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:117 → 215

BORG_CEP; Cdc42 effector

cl00113
Location:37 → 64

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 ...