CDC42EP1

gene
On this page

Also known as MSE55CEP1Borg5

Summary

CDC42EP1 (CDC42 effector protein 1, HGNC:17014) is a protein-coding gene on chromosome 22q13.1, encoding Cdc42 effector protein 1 (Q00587). Probably involved in the organization of the actin cytoskeleton.

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.

Source: NCBI Gene 11135 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 97 total
  • MANE Select transcript: NM_152243

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:17014
Approved symbolCDC42EP1
NameCDC42 effector protein 1
Location22q13.1
Locus typegene with protein product
StatusApproved
AliasesMSE55, CEP1, Borg5
Ensembl geneENSG00000128283
Ensembl biotypeprotein_coding
OMIM606084
Entrez11135

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000249014, ENST00000415670, ENST00000430687, ENST00000434728, ENST00000897681, ENST00000897682, ENST00000897683, ENST00000897684, ENST00000897685, ENST00000897686, ENST00000913122

RefSeq mRNA: 1 — MANE Select: NM_152243 NM_152243

CCDS: CCDS13949

Canonical transcript exons

ENST00000249014 — 3 exons

ExonStartEnd
ENSE000008801613756607237566812
ENSE000011738773756048037560588
ENSE000011738843756810837569405

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 97.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 70.8210 / max 685.1733, expressed in 1648 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter IDTPM avgSamples expressed
19213958.43581633
1921384.09591318
1921471.90171000
1921451.2598758
1921371.0908641
1921480.9362559
1921460.8779549
1921440.8279469
1921430.8020509
1921400.2961133

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
body of pancreasUBERON:000115097.93gold quality
body of stomachUBERON:000116197.45gold quality
C1 segment of cervical spinal cordUBERON:000646997.40gold quality
minor salivary glandUBERON:000183096.74gold quality
right coronary arteryUBERON:000162596.73gold quality
spinal cordUBERON:000224096.40gold quality
left adrenal glandUBERON:000123496.34gold quality
left adrenal gland cortexUBERON:003582596.34gold quality
lower esophagus mucosaUBERON:003583496.30gold quality
right adrenal glandUBERON:000123396.07gold quality
left uterine tubeUBERON:000130396.07gold quality
stomachUBERON:000094596.06gold quality
ascending aortaUBERON:000149695.91gold quality
ectocervixUBERON:001224995.88gold quality
thoracic aortaUBERON:000151595.79gold quality
right lobe of liverUBERON:000111495.70gold quality
right adrenal gland cortexUBERON:003582795.64gold quality
adrenal cortexUBERON:000123595.59gold quality
aortaUBERON:000094795.56gold quality
popliteal arteryUBERON:000225095.54gold quality
tibial arteryUBERON:000761095.52gold quality
omental fat padUBERON:001041495.37gold quality
peritoneumUBERON:000235895.31gold quality
tibial nerveUBERON:000132395.24gold quality
left coronary arteryUBERON:000162695.15gold quality
body of uterusUBERON:000985394.93gold quality
upper lobe of left lungUBERON:000895294.89gold quality
skin of legUBERON:000151194.84gold quality
coronary arteryUBERON:000162194.67gold quality
endocervixUBERON:000045894.42gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-MTAB-5061yes578.45
E-GEOD-81547yes476.09
E-MTAB-10553yes23.15
E-ANND-3yes13.58
E-CURD-112yes12.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting CDC42EP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-211099.9666.681930
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-6842-5P99.8067.541587
HSA-MIR-7110-5P99.8067.841712
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-92A-2-5P99.7567.012164
HSA-MIR-149-3P99.7268.223963
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-6752-5P99.5967.321243
HSA-MIR-468899.4864.68828
HSA-MIR-6743-5P99.4863.60721
HSA-MIR-128-1-5P99.3360.46332
HSA-MIR-128-2-5P99.3360.83311
HSA-MIR-465199.0667.572002
HSA-MIR-6506-5P99.0465.661386
HSA-MIR-60898.9367.832013
HSA-MIR-7155-5P98.6566.141290
HSA-MIR-1227-5P98.6565.321549
HSA-MIR-4700-5P98.6367.431915
HSA-MIR-619-5P98.5764.971988
HSA-MIR-318098.4664.68348
HSA-MIR-3180-3P98.4664.68348

Literature-anchored findings (GeneRIF, showing 4)

  • CDC42EP1 activation is required for mannose receptor-mediated phagocytosis by alveolar macrophages. (PMID:15574879)
  • 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. (PMID:27913681)
  • hsa_circ_0005991 promotes epithelial-mesenchymal transition by regulating miR-30b-3p/Cdc42EP1 axis in ovary endometriosis. (PMID:37757976)
  • Salmonella engages CDC42 effector protein 1 for intracellular invasion. (PMID:37877586)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriocdc42ep1bENSDARG00000077792
danio_reriocdc42ep1aENSDARG00000079549
mus_musculusCdc42ep1ENSMUSG00000049521
rattus_norvegicusCdc42ep1ENSRNOG00000008517

Paralogs (5): CDC42EP2 (ENSG00000149798), CDC42EP3 (ENSG00000163171), CDC42EP5 (ENSG00000167617), CDC42EP4 (ENSG00000179604), C15orf62 (ENSG00000188277)

Protein

Protein identifiers

Cdc42 effector protein 1Q00587 (reviewed: Q00587)

Alternative names: Binder of Rho GTPases 5, Serum protein MSE55

All UniProt accessions (4): Q00587, B0QYC6, B0QYC7, B0QYC8

UniProt curated annotations — full annotation on UniProt →

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

Subunit / interactions. Interacts with RHOQ and CDC42, in a GTP-dependent manner.

Subcellular location. Endomembrane system. Cytoplasm. Cytoskeleton.

Tissue specificity. Endothelial and bone marrow stromal cells.

Domain organisation. The CRIB domain mediates interaction with CDC42.

Similarity. Belongs to the BORG/CEP family.

Isoforms (2)

UniProt IDNamesCanonical?
Q00587-11yes
Q00587-22

RefSeq proteins (1): NP_689449* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000095CRIB_domDomain
IPR029273Cdc42_effect-likeDomain
IPR051296Cdc42_Effector_BORG/CEPFamily

Pfam: PF00786, PF14957

UniProt features (40 total): modified residue 19, repeat 8, compositionally biased region 5, region of interest 4, chain 1, domain 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q00587-F154.460.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (19): 19, 27, 34, 39, 53, 65, 73, 77, 101, 113, 121, 139, 180, 190, 192, 195, 303, 350, 353

Mutagenesis-validated functional residues (1):

PositionPhenotype
36–47no binding with cdc42.

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

IDPathway
R-HSA-9013148CDC42 GTPase cycle
R-HSA-9013149RAC1 GTPase cycle
R-HSA-9013404RAC2 GTPase cycle
R-HSA-9013406RHOQ GTPase cycle
R-HSA-9013408RHOG GTPase cycle
R-HSA-9013409RHOJ GTPase cycle
R-HSA-9013423RAC3 GTPase cycle
R-HSA-162582Signal Transduction
R-HSA-194315Signaling by Rho GTPases
R-HSA-9012999RHO GTPase cycle
R-HSA-9716542Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 184 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, TGACCTY_ERR1_Q2, MODULE_16, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, BACOLOD_RESISTANCE_TO_ALKYLATING_AGENTS_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION

GO Biological Process (5): Rho protein signal transduction (GO:0007266), regulation of cell shape (GO:0008360), positive regulation of actin filament polymerization (GO:0030838), positive regulation of pseudopodium assembly (GO:0031274), cell-cell adhesion (GO:0098609)

GO Molecular Function (3): small GTPase binding (GO:0031267), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), adherens junction (GO:0005912), focal adhesion (GO:0005925), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
RHO GTPase cycle7
Signaling by Rho GTPases, Miro GTPases and RHOBTB31
Signaling by Rho GTPases1
Signal Transduction1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
small GTPase-mediated signal transduction1
regulation of cell morphogenesis1
regulation of biological quality1
actin filament polymerization1
regulation of actin filament polymerization1
positive regulation of protein polymerization1
positive regulation of cytoskeleton organization1
positive regulation of supramolecular fiber organization1
pseudopodium assembly1
regulation of pseudopodium assembly1
positive regulation of plasma membrane bounded cell projection assembly1
cell adhesion1
GTPase binding1
cadherin binding1
cell-cell adhesion1
cell-cell adhesion mediator activity1
binding1
intracellular anatomical structure1
cytoplasm1
intracellular membraneless organelle1
membrane1
cell periphery1
cell-cell junction1
cell-substrate junction1
vacuole1
plasma membrane1

Protein interactions and networks

STRING

608 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CDC42EP1RHOQP17081810
CDC42EP1CDC42P21181663
CDC42EP1PAK4O96013473
CDC42EP1SLC24A3Q9HC58401
CDC42EP1DEPDC4Q8N2C3400
CDC42EP1STXBP6Q8NFX7397
CDC42EP1KRTAP4-8Q9BYQ9393
CDC42EP1CDC42EP3Q9UKI2385
CDC42EP1OR5H1A6NKK0369
CDC42EP1AKT1P31749366
CDC42EP1CDH18Q13634357
CDC42EP1SEPTIN7Q16181356
CDC42EP1CDC42EP4Q9H3Q1355
CDC42EP1AKAP11Q9UKA4326
CDC42EP1NPIPB12F8W0I5316
CDC42EP1ARHGEF16Q5VV41316

IntAct

147 interactions, top by confidence:

ABTypeScore
CDC42EP1CDC42psi-mi:“MI:0915”(physical association)0.890
CDC42CDC42EP1psi-mi:“MI:0915”(physical association)0.890
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
PKN3ARHGAP10psi-mi:“MI:0914”(association)0.680
YWHAGBLTP3Bpsi-mi:“MI:0914”(association)0.640
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
CA10WDHD1psi-mi:“MI:0914”(association)0.640
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
YWHABBLTP3Bpsi-mi:“MI:0914”(association)0.610
YWHAHBLTP3Bpsi-mi:“MI:0914”(association)0.570
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
CDC42EP1RHOJpsi-mi:“MI:0915”(physical association)0.560
DEF6CDC42EP1psi-mi:“MI:0915”(physical association)0.560
RHOJCDC42EP1psi-mi:“MI:0915”(physical association)0.560
CDC42EP1DEF6psi-mi:“MI:0915”(physical association)0.560
FAM174ABLTP3Bpsi-mi:“MI:0914”(association)0.530
CLEC11AVWA8psi-mi:“MI:0914”(association)0.530
STK16UNC119Bpsi-mi:“MI:0914”(association)0.530
TIMP3ZZEF1psi-mi:“MI:0914”(association)0.530
ANTXR1WFS1psi-mi:“MI:0914”(association)0.530
CDC42EP1MDFIpsi-mi:“MI:0915”(physical association)0.490
NRASESYT2psi-mi:“MI:2364”(proximity)0.480

BioGRID (173): CDC42EP1 (Two-hybrid), DEF6 (Two-hybrid), RHOJ (Two-hybrid), CDC42EP1 (Two-hybrid), CDC42EP1 (Two-hybrid), CDC42EP1 (Two-hybrid), KRTAP4-12 (Two-hybrid), MAPKAP1 (Two-hybrid), CDC42EP1 (Two-hybrid), CDC42EP1 (Affinity Capture-MS), CDC42EP1 (Affinity Capture-MS), CDC42EP1 (Proximity Label-MS), CDC42EP1 (Proximity Label-MS), CDC42EP1 (Affinity Capture-MS), CDC42EP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2Z4LIS9, A6QPM6, A7X8B3, A7X8B5, A7X8B7, A7X8C4, A7X8C7, A7X8C9, A7XW16, A7XW20, A7XW25, O08664, O15054, O43151, O70218, O89113, P09066, P14652, P17542, P19419, P19622, P22091, P23683, P49640, P70061, P78412, P82976, P97503, Q00587, Q04890, Q05916, Q05917, Q12950, Q15270, Q17QW1, Q3U133, Q5JPB2, Q5NCY0, Q6ZW13, Q80WY3

Diamond homologs: A1A5P0, Q00587, Q08DN6, Q17QW1, Q5PQP4, Q6NZY7, Q8JZX9, Q91W92, Q9CQC5, Q9H3Q1, Q9I7F7, Q9JM96, Q9UKI2, Q9Z0X0, O14613

SIGNOR signaling

2 interactions.

AEffectBMechanism
MAPK1unknownCDC42EP1phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 134 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria766.6×8e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex758.8×1e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways758.8×1e-09
Activation of BH3-only proteins743.5×1e-08
RHO GTPases activate PKNs935.7×6e-10
Intrinsic Pathway for Apoptosis725.6×5e-07
RHO GTPases activate IQGAPs521.6×6e-05
RAF activation521.0×7e-05

GO biological processes:

GO termPartnersFoldFDR
substantia nigra development619.4×5e-04
protein targeting516.2×4e-03
intracellular protein localization98.3×6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

97 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance81
Likely benign5
Benign5

Top pathogenic / likely-pathogenic (0)

SpliceAI

589 predictions. Top by Δscore:

VariantEffectΔscore
22:37560585:CCAGG:Cdonor_loss1.0000
22:37560586:CAGG:Cdonor_loss1.0000
22:37560587:AGGT:Adonor_loss1.0000
22:37560588:GGT:Gdonor_loss1.0000
22:37560589:GTAAC:Gdonor_loss1.0000
22:37560590:T:Gdonor_loss1.0000
22:37560584:GCCAG:Gdonor_gain0.9900
22:37566808:C:Gdonor_gain0.9900
22:37566810:ACGG:Adonor_loss0.9900
22:37566811:CGGT:Cdonor_loss0.9900
22:37566812:GGT:Gdonor_loss0.9900
22:37566813:GT:Gdonor_loss0.9900
22:37566814:TGAG:Tdonor_loss0.9900
22:37566815:GAGG:Gdonor_loss0.9900
22:37560589:G:GGdonor_gain0.9800
22:37566813:G:GGdonor_gain0.9800
22:37568102:TTCTA:Tacceptor_loss0.9700
22:37568103:TCTA:Tacceptor_loss0.9700
22:37568104:CTAG:Cacceptor_loss0.9700
22:37568105:TA:Tacceptor_loss0.9700
22:37568106:A:AGacceptor_gain0.9700
22:37568106:A:Cacceptor_loss0.9700
22:37568107:G:GGacceptor_gain0.9700
22:37568107:GGC:Gacceptor_gain0.9700
22:37568107:GGCCT:Gacceptor_gain0.9700
22:37566794:G:GTdonor_gain0.9600
22:37568107:GGCC:Gacceptor_gain0.9500
22:37568106:AG:Aacceptor_gain0.9400
22:37568107:GG:Gacceptor_gain0.9400
22:37563475:G:Tdonor_gain0.9300

AlphaMissense

2518 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
22:37566521:T:CF58L0.998
22:37566523:C:AF58L0.998
22:37566523:C:GF58L0.998
22:37566536:T:CF63L0.998
22:37566538:C:AF63L0.998
22:37566538:C:GF63L0.998
22:37566700:G:CK117N0.997
22:37566700:G:TK117N0.997
22:37566537:T:GF63C0.996
22:37566482:T:CF45L0.995
22:37566483:T:CF45S0.995
22:37566484:C:AF45L0.995
22:37566484:C:GF45L0.995
22:37566537:T:CF63S0.995
22:37566522:T:GF58C0.994
22:37566525:G:AG59E0.994
22:37566483:T:GF45C0.993
22:37566488:C:GH47D0.993
22:37566497:C:GH50D0.993
22:37566462:T:CI38T0.992
22:37566490:C:AH47Q0.992
22:37566490:C:GH47Q0.992
22:37566499:T:AH50Q0.992
22:37566499:T:GH50Q0.992
22:37566480:A:TD44V0.991
22:37566522:T:CF58S0.991
22:37566699:A:TK117M0.991
22:37566462:T:AI38N0.990
22:37566525:G:TG59V0.990
22:37566705:C:AA119D0.990

dbSNP variants (sampled 300 via entrez): RS1000573568 (22:37568508 TG>T), RS1000807351 (22:37568955 T>C,G), RS1000963281 (22:37564306 C>T), RS1001007609 (22:37559714 T>A,G), RS1001090009 (22:37569208 G>A), RS1001183772 (22:37563596 T>G), RS1001206015 (22:37564004 C>G), RS1001237779 (22:37561315 G>A,T), RS1001505664 (22:37563114 G>A), RS1001637608 (22:37566109 G>A), RS1001864095 (22:37563382 T>A), RS1001959917 (22:37559111 C>T), RS1002244761 (22:37567303 G>T), RS1002607029 (22:37566516 A>G), RS1002966604 (22:37560254 G>T)

Disease associations

OMIM: gene MIM:606084 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression3
Air Pollutantsincreases abundance, increases expression, decreases expression3
Cadmium Chloridedecreases expression, increases abundance3
sodium arseniteincreases expression2
Benzo(a)pyrenedecreases methylation, increases expression, increases methylation2
Estradiolincreases expression2
Smokedecreases expression, increases abundance2
Particulate Matterincreases expression, increases abundance2
FR900359affects phosphorylation1
dicrotophosincreases expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects expression1
testosterone undecanoatedecreases expression1
beta-lapachoneincreases expression1
cobaltous chloridedecreases expression1
zinc chromatedecreases expression, increases abundance1
coumarinincreases phosphorylation1
muconaldehydedecreases expression1
chromium hexavalent iondecreases expression, increases abundance1
perfluoro-n-nonanoic acidincreases expression1
ICG 001increases expression1
abrineincreases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidinedecreases expression, increases response to substance1
jinfukangaffects cotreatment, decreases expression1
theaflavin-3,3’-digallateaffects expression1
Sunitinibincreases expression1
Acetaminophenincreases expression1
Atrazineincreases expression1
Cadmiumdecreases expression, increases abundance1
Caffeineaffects phosphorylation1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.