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

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: mouse all
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Genomic context

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_000019.10 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 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?

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.

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

REN92994 (e-PCR)
- UniSTS:417792

REN92995 (e-PCR)
- UniSTS:417793

REN92996 (e-PCR)
- UniSTS:417794

REN92997 (e-PCR)
- UniSTS:417795

REN92998 (e-PCR)
- UniSTS:417796

REN92999 (e-PCR)
- UniSTS:417797

ECD18301 (e-PCR)
- UniSTS:299312

ECD15019 (e-PCR)
- UniSTS:296036

ECD08908 (e-PCR)
- UniSTS:289955

REN92963 (e-PCR)
- UniSTS:417761

REN92964 (e-PCR)
- UniSTS:417762

REN92965 (e-PCR)
- UniSTS:417763

REN92966 (e-PCR)
- UniSTS:417764

REN92967 (e-PCR)
- UniSTS:417765

REN92968 (e-PCR)
- UniSTS:417766

REN92969 (e-PCR)
- UniSTS:417767

REN92970 (e-PCR)
- UniSTS:417768

REN92971 (e-PCR)
- UniSTS:417769

REN92972 (e-PCR)
- UniSTS:417770

REN92973 (e-PCR)
- UniSTS:417771

REN92974 (e-PCR)
- UniSTS:417772

REN92975 (e-PCR)
- UniSTS:417773

REN92976 (e-PCR)
- UniSTS:417774

REN92977 (e-PCR)
- UniSTS:417775

REN92978 (e-PCR)
- UniSTS:417776

REN92979 (e-PCR)
- UniSTS:417777

REN92980 (e-PCR)
- UniSTS:417778

REN92981 (e-PCR)
- UniSTS:417779

REN92982 (e-PCR)
- UniSTS:417780

REN92983 (e-PCR)
- UniSTS:417781

REN92984 (e-PCR)
- UniSTS:417782

REN92985 (e-PCR)
- UniSTS:417783

REN92986 (e-PCR)
- UniSTS:417784

REN92987 (e-PCR)
- UniSTS:417785

REN92988 (e-PCR)
- UniSTS:417786

REN92989 (e-PCR)
- UniSTS:417787

REN92990 (e-PCR)
- UniSTS:417788

REN92991 (e-PCR)
- UniSTS:417789

ECD24421 (e-PCR)
- UniSTS:305405

REN92992 (e-PCR)
- UniSTS:417790

REN92993 (e-PCR)
- UniSTS:417791

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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 membrane	IDA Inferred from Direct Assay 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 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)

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 ...