Aliases for DEUP1 Gene

Aliases for DEUP1 Gene

  • Deuterosome Assembly Protein 1 2 3 4 5
  • Coiled-Coil Domain-Containing Protein 67 3 4
  • Coiled-Coil Domain Containing 67 2 3
  • CCDC67 3 4
  • Deuterosome Protein 1 3
  • FLJ25393 2
  • DEUP1 5

External Ids for DEUP1 Gene

Previous HGNC Symbols for DEUP1 Gene

  • CCDC67

Summaries for DEUP1 Gene

GeneCards Summary for DEUP1 Gene

DEUP1 (Deuterosome Assembly Protein 1) is a Protein Coding gene. Diseases associated with DEUP1 include Seckel Syndrome 6 and Primary Autosomal Recessive Microcephaly. An important paralog of this gene is CEP63.

UniProtKB/Swiss-Prot Summary for DEUP1 Gene

  • 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 (By similarity).

Additional gene information for DEUP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEUP1 Gene

Genomics for DEUP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEUP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J093329 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 611.8 +1.4 1439 1.4 RFX1 IKZF1 ZNF24 REST EZH2 GATAD2B NRF1 MGA ZNF766 POLR2A DEUP1 piR-32539-008 SLC36A4
GH11J093481 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.9 +159.3 159306 14 GATAD2A TEAD4 REST TFE3 SOX13 NFKBIZ RCOR2 ZIC2 RXRB IRF2 SMCO4 DEUP1 C11orf54 piR-39807-005 SRP14P2 lnc-SMCO4-1 SLC36A4
GH11J093392 Enhancer 0.6 Ensembl 8.2 +65.0 65022 2.6 POLR2A SCRT2 EGR1 NFE2 ZFHX2 ZNF384 ZNF513 ZFP91 SP3 EGR2 DEUP1 SMCO4 SLC36A4 piR-45012-093
GH11J093349 Enhancer 0.2 Ensembl 12.1 +20.7 20722 0.8 DEUP1 piR-32539-008 SLC36A4
GH11J093523 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.2 +196.2 196169 4.3 FOXA1 LARP7 PRDM1 RXRB IKZF2 SP1 TRIM22 PKNOX1 EED RELB SMCO4 SLC36A4 GPR83 DEUP1 MED17 SRP14P2 lnc-SMCO4-1 piR-39807-005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEUP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEUP1

Genomic Locations for DEUP1 Gene

Genomic Locations for DEUP1 Gene
chr11:93,329,079-93,438,487
(GRCh38/hg38)
Size:
109,409 bases
Orientation:
Plus strand
chr11:93,063,137-93,171,653
(GRCh37/hg19)
Size:
108,517 bases
Orientation:
Plus strand

Genomic View for DEUP1 Gene

Genes around DEUP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEUP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEUP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEUP1 Gene

Proteins for DEUP1 Gene

  • Protein details for DEUP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05D60-DEUP1_HUMAN
    Recommended name:
    Deuterosome assembly protein 1
    Protein Accession:
    Q05D60
    Secondary Accessions:
    • E9PJR5
    • Q8NEF1
    • Q96LL7

    Protein attributes for DEUP1 Gene

    Size:
    604 amino acids
    Molecular mass:
    70977 Da
    Quaternary structure:
    • Interacts with CEP152; the interaction is mutually exclusive with CEP63.
    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.

    Alternative splice isoforms for DEUP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEUP1 Gene

Post-translational modifications for DEUP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DEUP1 Gene

Domains & Families for DEUP1 Gene

Gene Families for DEUP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DEUP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEUP1 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 67 (CCD67_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05D60

UniProtKB/Swiss-Prot:

DEUP1_HUMAN :
  • Belongs to the CEP63 family.
Family:
  • Belongs to the CEP63 family.
genes like me logo Genes that share domains with DEUP1: view

Function for DEUP1 Gene

Molecular function for DEUP1 Gene

UniProtKB/Swiss-Prot 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 (By similarity).

Phenotypes From GWAS Catalog for DEUP1 Gene

Gene Ontology (GO) - Molecular Function for DEUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with DEUP1: view
genes like me logo Genes that share phenotypes with DEUP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEUP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEUP1 Gene

Localization for DEUP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEUP1 Gene

Cytoplasm. Note=Localizes to the deuterosome. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEUP1 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for DEUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0098536 deuterosome IBA,ISS --
genes like me logo Genes that share ontologies with DEUP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEUP1 Gene

Pathways & Interactions for DEUP1 Gene

PathCards logo

SuperPathways for DEUP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DEUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007099 centriole replication IBA 21873635
GO:0030030 cell projection organization IEA --
GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation IBA,ISS --
GO:1903251 multi-ciliated epithelial cell differentiation IBA,ISS --
genes like me logo Genes that share ontologies with DEUP1: view

No data available for Pathways by source and SIGNOR curated interactions for DEUP1 Gene

Drugs & Compounds for DEUP1 Gene

No Compound Related Data Available

Transcripts for DEUP1 Gene

mRNA/cDNA for DEUP1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEUP1

Alternative Splicing Database (ASD) splice patterns (SP) for DEUP1 Gene

No ASD Table

Relevant External Links for DEUP1 Gene

GeneLoc Exon Structure for
DEUP1

Expression for DEUP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEUP1

Evidence on tissue expression from TISSUES for DEUP1 Gene

  • Lung(4.3)
genes like me logo Genes that share expression patterns with DEUP1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEUP1 Gene

Orthologs for DEUP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DEUP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC67 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC67 30 31
  • 90.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC67 30 31
  • 89.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc67 30
  • 79.53 (n)
Mouse
(Mus musculus)
Mammalia Ccdc67 30 31
  • 77.11 (n)
OneToOne
Deup1 17
Oppossum
(Monodelphis domestica)
Mammalia CCDC67 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC67 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC67 31
  • 41 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC67 31
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc67 30
  • 53.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii cep63 31
  • 22 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5362 31
  • 42 (a)
OneToMany
Species where no ortholog for DEUP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DEUP1 Gene

ENSEMBL:
Gene Tree for DEUP1 (if available)
TreeFam:
Gene Tree for DEUP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEUP1: view image

Paralogs for DEUP1 Gene

Paralogs for DEUP1 Gene

genes like me logo Genes that share paralogs with DEUP1: view

Variants for DEUP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEUP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs12282288 - p.Glu440Gly
rs12288277 - p.Glu440Gln
rs2259633 - p.Gln504Lys
rs34205920 - p.Ser175Phe

Additional dbSNP identifiers (rs#s) for DEUP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEUP1 Gene

Variant ID Type Subtype PubMed ID
dgv38n16 CNV deletion 17901297
dgv694n106 CNV deletion 24896259
esv1003032 CNV deletion 20482838
esv1004124 CNV deletion 20482838
esv1079371 CNV deletion 17803354
esv1760867 CNV deletion 17803354
esv2316215 CNV deletion 18987734
esv2478418 CNV deletion 19546169
esv2744921 CNV deletion 23290073
esv3167 CNV loss 18987735
esv3396412 CNV duplication 20981092
esv3548165 CNV deletion 23714750
esv3548167 CNV deletion 23714750
esv3627290 CNV loss 21293372
esv3627292 CNV loss 21293372
esv5775 CNV loss 19470904
nsv1035530 CNV loss 25217958
nsv1039134 CNV loss 25217958
nsv1070064 CNV deletion 25765185
nsv1148425 CNV deletion 26484159
nsv438 CNV deletion 18451855
nsv439 CNV deletion 18451855
nsv468793 CNV loss 19166990
nsv498766 CNV loss 21111241
nsv507609 OTHER sequence alteration 20534489
nsv508649 CNV deletion 20534489
nsv555941 CNV loss 21841781
nsv958625 CNV deletion 24416366

Variation tolerance for DEUP1 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.85; 79.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEUP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEUP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEUP1 Gene

Disorders for DEUP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEUP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
seckel syndrome 6
  • sckl6
primary autosomal recessive microcephaly
  • mcph
- elite association - COSMIC cancer census association via MalaCards
Search DEUP1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DEUP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEUP1 Gene

Publications for DEUP1 Gene

  1. The Cep63 paralogue Deup1 enables massive de novo centriole biogenesis for vertebrate multiciliogenesis. (PMID: 24240477) Zhao H … Zhu X (Nature cell biology 2013) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Genome-Wide Association Study of Acute Renal Graft Rejection. (PMID: 27272414) Ghisdal L … Abramowicz M (American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2017) 3

Products for DEUP1 Gene

Sources for DEUP1 Gene