DEUP1

gene
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Also known as FLJ25393

Summary

DEUP1 (deuterosome assembly protein 1, HGNC:26344) is a protein-coding gene on chromosome 11q21, encoding Deuterosome assembly protein 1 (Q05D60). Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells.

Enables identical protein binding activity. Predicted to be involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Predicted to be located in cytoplasm and membrane. Predicted to be active in centriole and deuterosome.

Source: NCBI Gene 159989 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 21 total
  • MANE Select transcript: NM_181645

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26344
Approved symbolDEUP1
Namedeuterosome assembly protein 1
Location11q21
Locus typegene with protein product
StatusApproved
AliasesFLJ25393
Ensembl geneENSG00000165325
Ensembl biotypeprotein_coding
OMIM617148
Entrez159989

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 non_stop_decay

ENST00000298050, ENST00000525646, ENST00000527307, ENST00000529909, ENST00000530053, ENST00000530273, ENST00000530862, ENST00000531448, ENST00000531792, ENST00000532819, ENST00000534747, ENST00000618031

RefSeq mRNA: 1 — MANE Select: NM_181645 NM_181645

CCDS: CCDS44707

Canonical transcript exons

ENST00000298050 — 14 exons

ExonStartEnd
ENSE000010921409337103893371280
ENSE000010921429337007393370186
ENSE000010921459338539893385543
ENSE000010921469336416093364294
ENSE000010921489338902093389125
ENSE000014259479335694893357043
ENSE000015323029333074293330772
ENSE000021510289343754393438470
ENSE000034618209339623993396325
ENSE000034951119339445993394656
ENSE000035452929333221693332288
ENSE000035906579340823193408427
ENSE000036715429341500093415114
ENSE000037311279335537193355542

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 92.09.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1388 / max 16.2391, expressed in 50 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1162230.100739
1162220.031112
1162210.00713

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001992.09gold quality
left testisUBERON:000453388.86gold quality
right testisUBERON:000453488.39gold quality
testisUBERON:000047386.23gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.23gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.51gold quality
right uterine tubeUBERON:000130281.21gold quality
oviduct epitheliumUBERON:000480478.90gold quality
islet of LangerhansUBERON:000000674.51gold quality
bronchial epithelial cellCL:000232871.67gold quality
olfactory segment of nasal mucosaUBERON:000538671.49gold quality
bronchusUBERON:000218570.26gold quality
fallopian tubeUBERON:000388966.58gold quality
mucosa of paranasal sinusUBERON:000503065.72gold quality
adenohypophysisUBERON:000219664.07gold quality
pituitary glandUBERON:000000762.15gold quality
buccal mucosa cellCL:000233661.37silver quality
lower lobe of lungUBERON:000894961.36silver quality
sural nerveUBERON:001548859.86silver quality
adrenal tissueUBERON:001830359.54gold quality
pancreasUBERON:000126458.95gold quality
C1 segment of cervical spinal cordUBERON:000646958.89gold quality
right adrenal gland cortexUBERON:003582758.59gold quality
ventricular zoneUBERON:000305358.24gold quality
spinal cordUBERON:000224057.19gold quality
nasal cavity mucosaUBERON:000182655.75gold quality
right adrenal glandUBERON:000123355.59gold quality
calcaneal tendonUBERON:000370155.39gold quality
hypothalamusUBERON:000189854.58gold quality
adrenal glandUBERON:000236953.97gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-114yes12.41
E-ANND-3yes5.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXN1

miRNA regulators (miRDB)

67 targeting DEUP1, 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-4668-3P100.0068.742635
HSA-MIR-340-5P100.0072.504437
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-363-3P99.9874.721821
HSA-MIR-314899.9775.066478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-96-5P99.9572.802140
HSA-MIR-651-3P99.9473.485177
HSA-MIR-22-3P99.9368.13917
HSA-MIR-1213399.9271.822006
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-589-3P99.9169.622088
HSA-MIR-449699.8868.892236
HSA-MIR-806299.8868.43995
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-449599.8272.083080
HSA-MIR-6505-5P99.7369.251595
HSA-MIR-1296-3P99.7264.04636
HSA-MIR-4699-3P99.7170.153142
HSA-MIR-1212499.6869.172700
HSA-MIR-29B-2-5P99.6768.981726
HSA-MIR-509399.6769.262291
HSA-MIR-570099.6469.882280

Literature-anchored findings (GeneRIF, showing 5)

  • suggest that CCDC67 is a putative tumor suppressor gene that is silenced in gastric cancers by promoter CpG methylation and that it may play an important role in cell signaling and migration related to tumorigenesis (PMID:22610074)
  • Loss of CCDC67 is associated with papillary thyroid carcinoma. (PMID:26716505)
  • Single nucleotide polymorphism in CCDC67 gene is associated with Acute Renal Graft Rejection. (PMID:27272414)
  • MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67. (PMID:31081096)
  • E2F4’s cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6. (PMID:34260288)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusDeup1ENSMUSG00000039977
rattus_norvegicusDeup1ENSRNOG00000061247

Paralogs (2): CCDC18 (ENSG00000122483), CEP63 (ENSG00000182923)

Protein

Protein identifiers

Deuterosome assembly protein 1Q05D60 (reviewed: Q05D60)

Alternative names: Coiled-coil domain-containing protein 67

All UniProt accessions (10): Q05D60, A0A087WVI3, A0A088AWP1, A0A0A0MTD8, A0A5H1ZRS0, E9PIY2, E9PLL9, E9PLX9, E9PMP4, E9PPB2

UniProt curated annotations — full annotation on UniProt →

Function. Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis.

Subunit / interactions. Interacts with CEP152; the interaction is mutually exclusive with CEP63.

Subcellular location. Cytoplasm.

Miscellaneous. CEP63 and DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, DEUP1 mediates de novo centriole amplification in multiciliated cells.

Similarity. Belongs to the CEP63 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q05D60-11yes
Q05D60-22

RefSeq proteins (1): NP_857596* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR031470CEP63/Deup1_NDomain
IPR057656CEP63/Deup1_CCDomain

Pfam: PF17045, PF25771

UniProt features (14 total): coiled-coil region 5, sequence variant 4, splice variant 2, chain 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q05D60-F178.060.54

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 (1): 547

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CENTRIOLE_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_CELL_PROJECTION_ORGANIZATION, SOX5_01, GOBP_CENTROSOME_DUPLICATION, GOCC_CENTRIOLE, GOBP_CELL_CYCLE_PROCESS, chr11q21, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED

GO Biological Process (4): centriole replication (GO:0007099), cell projection organization (GO:0030030), de novo centriole assembly involved in multi-ciliated epithelial cell differentiation (GO:0098535), multi-ciliated epithelial cell differentiation (GO:1903251)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), centriole (GO:0005814), deuterosome (GO:0098536), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
intracellular membraneless organelle2
cell cycle process1
centrosome duplication1
centriole assembly1
cellular component organization1
de novo centriole assembly1
multi-ciliated epithelial cell differentiation1
columnar/cuboidal epithelial cell differentiation1
protein binding1
binding1
intracellular anatomical structure1
microtubule organizing center1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DEUP1CCDC78A2IDD5744
DEUP1CCNOP22674661
DEUP1SASS6Q6UVJ0654
DEUP1PLK4O00444653
DEUP1TMEM135Q86UB9647
DEUP1STILQ15468644
DEUP1MCIDASD6RGH6638
DEUP1CDC20BQ86Y33628
DEUP1GMNCA6NCL1622
DEUP1MAN2A1Q16706571
DEUP1FOXJ1Q92949565
DEUP1CEP152O94986540
DEUP1CEP70Q8NHQ1496
DEUP1CEP57Q86XR8486
DEUP1CEP78Q5JTW2476

IntAct

225 interactions, top by confidence:

ABTypeScore
DEUP1TXLNApsi-mi:“MI:0915”(physical association)0.720
DEUP1DEUP1psi-mi:“MI:0915”(physical association)0.720
TXLNBDEUP1psi-mi:“MI:0915”(physical association)0.720
DEUP1EXOC5psi-mi:“MI:0915”(physical association)0.720
TXLNADEUP1psi-mi:“MI:0915”(physical association)0.720
DEUP1TXLNBpsi-mi:“MI:0915”(physical association)0.720
EXOC5DEUP1psi-mi:“MI:0915”(physical association)0.720
DEUP1DGCR6Lpsi-mi:“MI:0915”(physical association)0.720
DGCR6LDEUP1psi-mi:“MI:0915”(physical association)0.720

BioGRID (116): CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid)

ESM2 similar proteins: A0JMQ7, A0JMY4, A2AUM9, A2BDR7, A2BGP7, A6NI79, A6PWD2, A6QNP9, B1AJZ9, D3YV10, G9G127, O35550, O35551, O75330, O94986, P0CB05, Q05D60, Q0VFN8, Q0VFX2, Q15276, Q17QT2, Q3UPP8, Q498G2, Q4KLY0, Q4PJT6, Q4R703, Q4V7B0, Q5JU67, Q5NVN6, Q5U3A8, Q5U3Z6, Q5U4W1, Q5ZL12, Q66KE8, Q6DFC2, Q6DIS8, Q6IMY1, Q6NRC9, Q6P402, Q7M6Y5

Diamond homologs: B9V5F5, F7DP49, P0CB05, Q05D60, Q5U3Z6, Q7M6Y5, Q95JK1, Q3UPP8, Q4KLY0, Q4R703, Q5HZK9, Q5NVN6, Q6PGZ0, Q96MT8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance6
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2576 predictions. Top by Δscore:

VariantEffectΔscore
11:93330771:AGGTA:Adonor_loss1.0000
11:93355362:A:AGacceptor_gain1.0000
11:93355362:AATT:Aacceptor_gain1.0000
11:93355363:A:Gacceptor_gain1.0000
11:93356943:TGCA:Tacceptor_loss1.0000
11:93356945:CA:Cacceptor_loss1.0000
11:93356946:A:Gacceptor_loss1.0000
11:93356947:G:GCacceptor_loss1.0000
11:93356947:GGTA:Gacceptor_gain1.0000
11:93357042:AAGTA:Adonor_loss1.0000
11:93357043:AG:Adonor_loss1.0000
11:93357044:G:GGdonor_gain1.0000
11:93357044:GT:Gdonor_loss1.0000
11:93357045:T:Adonor_loss1.0000
11:93364154:TTACA:Tacceptor_loss1.0000
11:93364156:ACAG:Aacceptor_loss1.0000
11:93364157:CAGTT:Cacceptor_loss1.0000
11:93364158:A:AGacceptor_gain1.0000
11:93364159:G:GGacceptor_gain1.0000
11:93364159:G:Tacceptor_loss1.0000
11:93364159:GT:Gacceptor_gain1.0000
11:93364159:GTTTT:Gacceptor_gain1.0000
11:93389015:TGTAG:Tacceptor_loss1.0000
11:93389016:GTAGA:Gacceptor_loss1.0000
11:93389018:A:ACacceptor_loss1.0000
11:93389018:A:AGacceptor_gain1.0000
11:93389019:G:GGacceptor_gain1.0000
11:93389019:GA:Gacceptor_gain1.0000
11:93389019:GACTT:Gacceptor_gain1.0000
11:93389123:AAGGT:Adonor_loss1.0000

AlphaMissense

4050 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:93355403:T:CL21S0.999
11:93355447:T:AW36R0.999
11:93355447:T:CW36R0.999
11:93355449:G:CW36C0.998
11:93355449:G:TW36C0.998
11:93355394:T:CL18P0.997
11:93371180:T:CL230P0.996
11:93355394:T:AL18H0.995
11:93355412:A:CQ24P0.995
11:93355490:G:CR50P0.995
11:93355415:T:GI25S0.994
11:93355510:G:CA57P0.994
11:93356958:T:CL71P0.994
11:93355448:G:CW36S0.993
11:93437655:T:CL584P0.993
11:93355425:G:AM28I0.992
11:93355425:G:CM28I0.992
11:93355425:G:TM28I0.992
11:93357024:T:CL93P0.992
11:93357033:T:CL96P0.991
11:93371243:T:CL251P0.991
11:93371255:T:CL255P0.991
11:93355415:T:AI25N0.990
11:93364170:T:CL103P0.990
11:93394535:T:CL373P0.990
11:93437634:T:CL577P0.989
11:93355478:G:CR46P0.988
11:93355487:T:CL49P0.988
11:93394547:T:CL377P0.988
11:93371188:G:CA233P0.987

dbSNP variants (sampled 300 via entrez): RS1000013205 (11:93434589 C>T), RS1000023917 (11:93378979 C>T), RS1000056719 (11:93347906 AT>A,ATT), RS1000057269 (11:93332885 A>G), RS1000073142 (11:93393855 G>A), RS1000095535 (11:93419567 A>G), RS1000165584 (11:93375142 G>C), RS1000215728 (11:93358159 A>C), RS1000233744 (11:93372220 G>A,T), RS1000263536 (11:93405217 T>C), RS1000290875 (11:93407955 G>T), RS1000294970 (11:93365337 A>G), RS1000374350 (11:93401300 A>C), RS1000384344 (11:93434979 G>A), RS1000391022 (11:93364911 A>C)

Disease associations

OMIM: gene MIM:617148 | disease phenotypes: MIM:173900

GenCC curated gene-disease

Mondo (1): polycystic kidney disease (MONDO:0020642)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST001444_21Pulmonary function decline4.000000e-06
GCST001762_792Obesity-related traits4.000000e-06
GCST002934_1Zinc levels2.000000e-07
GCST009202_6Rostral middle frontal gyrus volume8.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004713FEV/FVC ratio

MeSH disease descriptors (1)

DescriptorNameTree numbers
D007690Polycystic Kidney DiseasesC12.050.351.968.419.403.875; C12.200.777.419.403.875; C12.950.419.403.875; C16.131.077.717; C16.320.184.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
arseniteincreases methylation1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment1
CGP 52608affects binding, increases reaction1
Benzo(a)pyreneincreases methylation, affects methylation1
Cadmiumincreases abundance, increases expression1
Folic Aciddecreases expression1
Lipopolysaccharidesincreases expression, affects response to substance, affects cotreatment1
Tobacco Smoke Pollutiondecreases expression1
Triclosandecreases expression1
Valproic Aciddecreases methylation1
Antirheumatic Agentsaffects expression1
Cadmium Chlorideincreases abundance, increases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT02140814PHASE2COMPLETEDUncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease
NCT02558595PHASE2COMPLETEDPilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2)
NCT02697617PHASE2COMPLETEDUse of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease
NCT02166489PHASE1COMPLETEDMesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease
NCT01009957PHASE2/PHASE3TERMINATEDEverolimus on CKD Progression in ADPKD Patients
NCT01680250PHASE2/PHASE3UNKNOWNSirolimus for Massive Polycystic Liver
NCT00286156PHASE1/PHASE2COMPLETEDPilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT03423810EARLY_PHASE1COMPLETEDAssessing a Dose-Response Relationship of Hydralazine and Its Effects on DNA Methyltransferase 1 in Polycystic Kidney Disease Patients
NCT00792155Not specifiedRECRUITINGPolycystic Kidney Disease Data Repository
NCT01873235Not specifiedRECRUITINGPKD Clinical and Translational Core Study
NCT01931644Not specifiedCOMPLETEDAt-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
NCT02142101Not specifiedCOMPLETEDEvaluation of Gut Bacteria in Patients With Polycystic Kidney Disease
NCT02739750Not specifiedCOMPLETEDPioglitazone and Lumbar Bone Marrow Fat in Chronic Kidney Disease
NCT02936791Not specifiedRECRUITINGEarly PKD Observational Cohort Study
NCT03726463Not specifiedUNKNOWNEvaluation of Iliac and Renal Artery for Mechanism of Intracranial Aneurysm in ADPKD
NCT03889392Not specifiedCOMPLETEDEvaluation of Nephrectomy Specimen for Intracranial Aneurysm Development in ADPKD
NCT03948113Not specifiedCOMPLETEDOutcome of Autosomal Dominant Polycystic Kidney Disease Patients on Peritoneal Dialysis: a National Retrospective Study Based on Two French Registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network).
NCT04039061Not specifiedRECRUITINGADPKD Patient Registry
NCT05215964Not specifiedUNKNOWNThe Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease
NCT06036992Not specifiedACTIVE_NOT_RECRUITINGStudy and Management of Cystic Complications in Autosomal Dominant Polycystic Kidney Disease
NCT06325644Not specifiedRECRUITINGWell-Formulated Ketogenic Diet Polycystic Kidney Disease
NCT06728228Not specifiedRECRUITINGAmnioinfusion for Fetal Renal Failure
NCT06841224Not specifiedENROLLING_BY_INVITATIONThe Factors Affecting IPP in Peritoneal Dialysis Patients with Polycystic Kidney Disease
NCT06867471Not specifiedRECRUITINGEffects of Exogenous Ketosis on Proteinuria and Renal Function
NCT07310641Not specifiedCOMPLETEDDescriptive Analysis of Preimplantation Genetic Test (PGT)in Couples With Polycystic Kidney Disease (PKD). In the ADPKD Subgroup Evaluation of Outcomes and Complications Comparing Couples in Which the Father is Affected With Couples in Which the Mother is Affected
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): polycystic kidney disease