Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11135
Gene name	CDC42 effector protein 1
Gene symbol	CDC42EP1
Synonyms (NCBI Gene)	BORG5CEP1MSE55
Chromosome	22
Chromosome location	22q13.1
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. Thi

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Show/Hide all (179)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043823	hsa-miR-328-3p	CLASH	23622248
MIRT039933	hsa-miR-615-3p	CLASH	23622248
MIRT039539	hsa-miR-652-3p	CLASH	23622248
MIRT037123	hsa-miR-877-3p	CLASH	23622248
MIRT036551	hsa-miR-1224-3p	CLASH	23622248
MIRT877991	hsa-miR-1234	CLIP-seq
MIRT877992	hsa-miR-1321	CLIP-seq
MIRT877993	hsa-miR-1908	CLIP-seq
MIRT877994	hsa-miR-2110	CLIP-seq
MIRT877995	hsa-miR-2467-3p	CLIP-seq
MIRT877996	hsa-miR-2909	CLIP-seq
MIRT877997	hsa-miR-3147	CLIP-seq
MIRT877998	hsa-miR-3150a-3p	CLIP-seq
MIRT877999	hsa-miR-3158-5p	CLIP-seq
MIRT878000	hsa-miR-3175	CLIP-seq
MIRT878001	hsa-miR-3180	CLIP-seq
MIRT878002	hsa-miR-3180-3p	CLIP-seq
MIRT878003	hsa-miR-3189-5p	CLIP-seq
MIRT878004	hsa-miR-3192	CLIP-seq
MIRT878005	hsa-miR-3196	CLIP-seq
MIRT878006	hsa-miR-3649	CLIP-seq
MIRT878007	hsa-miR-3678-3p	CLIP-seq
MIRT878008	hsa-miR-4257	CLIP-seq
MIRT878009	hsa-miR-4271	CLIP-seq
MIRT878010	hsa-miR-4419a	CLIP-seq
MIRT878011	hsa-miR-4425	CLIP-seq
MIRT878012	hsa-miR-4505	CLIP-seq
MIRT878013	hsa-miR-4510	CLIP-seq
MIRT878014	hsa-miR-4706	CLIP-seq
MIRT878015	hsa-miR-4725-3p	CLIP-seq
MIRT878016	hsa-miR-4728-5p	CLIP-seq
MIRT878017	hsa-miR-4731-5p	CLIP-seq
MIRT878018	hsa-miR-4739	CLIP-seq
MIRT878019	hsa-miR-4749-5p	CLIP-seq
MIRT878020	hsa-miR-4756-5p	CLIP-seq
MIRT878021	hsa-miR-4758-3p	CLIP-seq
MIRT878022	hsa-miR-4781-3p	CLIP-seq
MIRT878023	hsa-miR-485-5p	CLIP-seq
MIRT878024	hsa-miR-491-5p	CLIP-seq
MIRT878025	hsa-miR-542-5p	CLIP-seq
MIRT878026	hsa-miR-555	CLIP-seq
MIRT878027	hsa-miR-629	CLIP-seq
MIRT878028	hsa-miR-661	CLIP-seq
MIRT878029	hsa-miR-663	CLIP-seq
MIRT878030	hsa-miR-939	CLIP-seq
MIRT1546325	hsa-miR-1207-5p	CLIP-seq
MIRT1546326	hsa-miR-1271	CLIP-seq
MIRT1546327	hsa-miR-182	CLIP-seq
MIRT1546328	hsa-miR-223	CLIP-seq
MIRT878004	hsa-miR-3192	CLIP-seq
MIRT1546329	hsa-miR-326	CLIP-seq
MIRT1546330	hsa-miR-330-5p	CLIP-seq
MIRT1546331	hsa-miR-3918	CLIP-seq
MIRT1546332	hsa-miR-4300	CLIP-seq
MIRT1546333	hsa-miR-4314	CLIP-seq
MIRT1546334	hsa-miR-4328	CLIP-seq
MIRT1546335	hsa-miR-4512	CLIP-seq
MIRT1546336	hsa-miR-4646-5p	CLIP-seq
MIRT1546337	hsa-miR-4736	CLIP-seq
MIRT1546338	hsa-miR-4757-5p	CLIP-seq
MIRT1546339	hsa-miR-4763-3p	CLIP-seq
MIRT1546340	hsa-miR-548n	CLIP-seq
MIRT1546341	hsa-miR-548t	CLIP-seq
MIRT1546342	hsa-miR-920	CLIP-seq
MIRT1546343	hsa-miR-96	CLIP-seq
MIRT1960217	hsa-miR-1197	CLIP-seq
MIRT1960218	hsa-miR-1207-3p	CLIP-seq
MIRT1960219	hsa-miR-122	CLIP-seq
MIRT1960220	hsa-miR-1294	CLIP-seq
MIRT1960221	hsa-miR-138	CLIP-seq
MIRT1960222	hsa-miR-198	CLIP-seq
MIRT877995	hsa-miR-2467-3p	CLIP-seq
MIRT1960223	hsa-miR-2467-5p	CLIP-seq
MIRT1960224	hsa-miR-3128	CLIP-seq
MIRT877998	hsa-miR-3150a-3p	CLIP-seq
MIRT1960225	hsa-miR-3151	CLIP-seq
MIRT877999	hsa-miR-3158-5p	CLIP-seq
MIRT878000	hsa-miR-3175	CLIP-seq
MIRT1960226	hsa-miR-3188	CLIP-seq
MIRT1960227	hsa-miR-3622b-5p	CLIP-seq
MIRT878007	hsa-miR-3678-3p	CLIP-seq
MIRT1960228	hsa-miR-3975	CLIP-seq
MIRT878008	hsa-miR-4257	CLIP-seq
MIRT1960229	hsa-miR-4267	CLIP-seq
MIRT1960230	hsa-miR-4316	CLIP-seq
MIRT1960231	hsa-miR-4438	CLIP-seq
MIRT1960232	hsa-miR-4447	CLIP-seq
MIRT1960233	hsa-miR-4456	CLIP-seq
MIRT1960234	hsa-miR-4472	CLIP-seq
MIRT1960235	hsa-miR-4481	CLIP-seq
MIRT878012	hsa-miR-4505	CLIP-seq
MIRT1960236	hsa-miR-4514	CLIP-seq
MIRT1960237	hsa-miR-4521	CLIP-seq
MIRT1960238	hsa-miR-4651	CLIP-seq
MIRT1960239	hsa-miR-4667-5p	CLIP-seq
MIRT1960240	hsa-miR-4677-3p	CLIP-seq
MIRT1960241	hsa-miR-4691-5p	CLIP-seq
MIRT1960242	hsa-miR-4692	CLIP-seq
MIRT1960243	hsa-miR-4700-5p	CLIP-seq
MIRT1960244	hsa-miR-4720-5p	CLIP-seq
MIRT878016	hsa-miR-4728-5p	CLIP-seq
MIRT1960245	hsa-miR-4745-5p	CLIP-seq
MIRT1960246	hsa-miR-4799-3p	CLIP-seq
MIRT878023	hsa-miR-485-5p	CLIP-seq
MIRT878024	hsa-miR-491-5p	CLIP-seq
MIRT1960247	hsa-miR-5095	CLIP-seq
MIRT1960248	hsa-miR-520a-5p	CLIP-seq
MIRT1960249	hsa-miR-525-5p	CLIP-seq
MIRT1960250	hsa-miR-541	CLIP-seq
MIRT1960251	hsa-miR-603	CLIP-seq
MIRT1960252	hsa-miR-608	CLIP-seq
MIRT1960253	hsa-miR-637	CLIP-seq
MIRT1960254	hsa-miR-654-5p	CLIP-seq
MIRT1960255	hsa-miR-759	CLIP-seq
MIRT1960256	hsa-miR-766	CLIP-seq
MIRT878030	hsa-miR-939	CLIP-seq
MIRT1960257	hsa-miR-940	CLIP-seq
MIRT1960217	hsa-miR-1197	CLIP-seq
MIRT1960218	hsa-miR-1207-3p	CLIP-seq
MIRT1960219	hsa-miR-122	CLIP-seq
MIRT1960220	hsa-miR-1294	CLIP-seq
MIRT1960221	hsa-miR-138	CLIP-seq
MIRT1960223	hsa-miR-2467-5p	CLIP-seq
MIRT1960225	hsa-miR-3151	CLIP-seq
MIRT1960226	hsa-miR-3188	CLIP-seq
MIRT1960227	hsa-miR-3622b-5p	CLIP-seq
MIRT2197052	hsa-miR-3665	CLIP-seq
MIRT1960228	hsa-miR-3975	CLIP-seq
MIRT1960229	hsa-miR-4267	CLIP-seq
MIRT1960230	hsa-miR-4316	CLIP-seq
MIRT1960231	hsa-miR-4438	CLIP-seq
MIRT1960232	hsa-miR-4447	CLIP-seq
MIRT1960233	hsa-miR-4456	CLIP-seq
MIRT1960234	hsa-miR-4472	CLIP-seq
MIRT1960235	hsa-miR-4481	CLIP-seq
MIRT878012	hsa-miR-4505	CLIP-seq
MIRT1960236	hsa-miR-4514	CLIP-seq
MIRT1960237	hsa-miR-4521	CLIP-seq
MIRT1960238	hsa-miR-4651	CLIP-seq
MIRT1960239	hsa-miR-4667-5p	CLIP-seq
MIRT1960240	hsa-miR-4677-3p	CLIP-seq
MIRT1960241	hsa-miR-4691-5p	CLIP-seq
MIRT1960242	hsa-miR-4692	CLIP-seq
MIRT1960243	hsa-miR-4700-5p	CLIP-seq
MIRT1546337	hsa-miR-4736	CLIP-seq
MIRT1960245	hsa-miR-4745-5p	CLIP-seq
MIRT878023	hsa-miR-485-5p	CLIP-seq
MIRT1960247	hsa-miR-5095	CLIP-seq
MIRT1960250	hsa-miR-541	CLIP-seq
MIRT1960251	hsa-miR-603	CLIP-seq
MIRT1960252	hsa-miR-608	CLIP-seq
MIRT1960253	hsa-miR-637	CLIP-seq
MIRT1960254	hsa-miR-654-5p	CLIP-seq
MIRT1960256	hsa-miR-766	CLIP-seq
MIRT1960257	hsa-miR-940	CLIP-seq
MIRT1960217	hsa-miR-1197	CLIP-seq
MIRT1960218	hsa-miR-1207-3p	CLIP-seq
MIRT1960220	hsa-miR-1294	CLIP-seq
MIRT1960223	hsa-miR-2467-5p	CLIP-seq
MIRT1960226	hsa-miR-3188	CLIP-seq
MIRT1960228	hsa-miR-3975	CLIP-seq
MIRT1960229	hsa-miR-4267	CLIP-seq
MIRT1960230	hsa-miR-4316	CLIP-seq
MIRT878012	hsa-miR-4505	CLIP-seq
MIRT1960240	hsa-miR-4677-3p	CLIP-seq
MIRT1960241	hsa-miR-4691-5p	CLIP-seq
MIRT878023	hsa-miR-485-5p	CLIP-seq
MIRT1960251	hsa-miR-603	CLIP-seq
MIRT1960256	hsa-miR-766	CLIP-seq
MIRT1960217	hsa-miR-1197	CLIP-seq
MIRT1960220	hsa-miR-1294	CLIP-seq
MIRT1960223	hsa-miR-2467-5p	CLIP-seq
MIRT1960226	hsa-miR-3188	CLIP-seq
MIRT1960228	hsa-miR-3975	CLIP-seq
MIRT1960230	hsa-miR-4316	CLIP-seq
MIRT878012	hsa-miR-4505	CLIP-seq
MIRT1960240	hsa-miR-4677-3p	CLIP-seq
MIRT878023	hsa-miR-485-5p	CLIP-seq
MIRT1960251	hsa-miR-603	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 20936779, 21988832, 25416956, 31980649, 32296183, 35271311
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005912	Component	Adherens junction	HDA	25468996
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0008360	Process	Regulation of cell shape	IDA	11035016
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	IBA
GO:0031267	Function	Small GTPase binding	IBA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IBA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IDA	11035016
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098641	Function	Cadherin binding involved in cell-cell adhesion	HDA	25468996

MIM	HGNC	e!Ensembl
606084	17014	ENSG00000128283

Q00587

Protein name

Cdc42 effector protein 1 (Binder of Rho GTPases 5) (Serum protein MSE55)

Protein function

Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00786	PBD	37 → 67	P21-Rho-binding domain	Domain
PF14957	BORG_CEP	162 → 217	Cdc42 effector	Family

Tissue specificity

TISSUE SPECIFICITY: Endothelial and bone marrow stromal cells.

Sequence

MPGPQGGRGAATMSLGKLSPVGWVSSSQGKRRLTADMISHPLGDFRHTMHVGRGGDVFGD
TSFLSNHGGSSGSTHRSPRSFLAKKLQLVRRVGAPPRRMASPPAPSPAPPAISPIIKNAI
SLPQLNQAAYDSLVVGKLSFDSSPTSSTDGHSSYGLDSGFCTISRLPRSEKPHDRDRDGS
FPSEPGLRRSDSLLSFRLDLDLGPSLLSELLGVMSLPEAPAAETPAPAANPPAPTANPTG
PAANPPATTANPPAPAANPSAPAATPTGPAANPPAPAASSTPHGHCPNGVTAGLGPVAEV
KSSPVGGGPRGPAGPALGRHWGAGWDGGHHYPEMDARQERVEVLPQARASWESLDEEWRA
PQAGSRTPVPSTVQANTFEFADAEEDDEVKV

Sequence length

391

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOIMMUNE HEPATITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis	Arthritis	BEFREE	21953289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20192991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	28919520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18284415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29084415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37757976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29452423, 30611755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	18284415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37757976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	28919520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	29452423, 30406565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21360494, 21953289, 23480184, 23505239, 28919520, 29084415, 29452423, 30406565, 30611755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33146897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28919520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	33146897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CDC42EP1 (CDC42 effector protein 1)