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Aliases for DOPEY1 Gene

Aliases for DOPEY1 Gene

  • Dopey Family Member 1 2 3 5
  • KIAA1117 2 3 4
  • Homolog Of Yeast DOP1 3
  • Protein Dopey-1 3
  • DJ202D23.2 3
  • DOP1 3

External Ids for DOPEY1 Gene

Previous HGNC Symbols for DOPEY1 Gene

  • KIAA1117

Previous GeneCards Identifiers for DOPEY1 Gene

  • GC06P083835
  • GC06P081005

Summaries for DOPEY1 Gene

GeneCards Summary for DOPEY1 Gene

DOPEY1 (Dopey Family Member 1) is a Protein Coding gene. Diseases associated with DOPEY1 include Immunodeficiency 23 and Robinow Syndrome. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is DOPEY2.

UniProtKB/Swiss-Prot for DOPEY1 Gene

  • May be involved in protein traffic between late Golgi and early endosomes.

Additional gene information for DOPEY1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOPEY1 Gene

Genomics for DOPEY1 Gene

GeneHancer (GH) Regulatory Elements for DOPEY1 Gene

Promoters and enhancers for DOPEY1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J083067 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 687 +2.3 2273 5.8 HDGF PKNOX1 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 ZNF207 ZNF143 DOPEY1 SNAP91 RWDD2A
GH06J083086 Promoter 0.7 EPDnew 650.4 +19.3 19311 0.1 POLR2A NR2F1 ATF2 DOPEY1 RWDD2A
GH06J083866 Enhancer 1.5 FANTOM5 Ensembl ENCODE 64.6 +800.3 800262 2.3 PKNOX1 FEZF1 ZNF2 YY1 CBX5 ZNF213 ZNF416 ZNF143 ZNF548 FOS CEP162 DOPEY1 UBE3D RWDD2A RIPPLY2 CYB5R4 PIR41363 GC06P083900
GH06J083192 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.1 +125.7 125749 2.4 HDGF SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RWDD2A PGM3 DOPEY1 ME1 GC06M083097
GH06J082259 Enhancer 1 ENCODE 34.7 -806.0 -805962 3.6 PKNOX1 ARNT FEZF1 ZNF2 YY1 ZNF213 FOS KLF13 SP3 REST GC06P082262 DOPEY1 UBE3D LOC100132659 IBTK TPBG PGM3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOPEY1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOPEY1 gene promoter:
  • Max1
  • c-Myc
  • Meis-1b
  • Meis-1a
  • Meis-1
  • FOXL1
  • S8
  • GATA-6
  • COUP

Genomic Locations for DOPEY1 Gene

Genomic Locations for DOPEY1 Gene
103,691 bases
Plus strand
103,685 bases
Plus strand

Genomic View for DOPEY1 Gene

Genes around DOPEY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOPEY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOPEY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOPEY1 Gene

Proteins for DOPEY1 Gene

  • Protein details for DOPEY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein dopey-1
    Protein Accession:
    Secondary Accessions:
    • Q86XV1
    • Q9H5J5
    • Q9NSL4
    • Q9UPN5
    • Q9Y414

    Protein attributes for DOPEY1 Gene

    2465 amino acids
    Molecular mass:
    277355 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB15631.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DOPEY1 Gene

Post-translational modifications for DOPEY1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOPEY1 Gene

Domains & Families for DOPEY1 Gene

Gene Families for DOPEY1 Gene

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

Protein Domains for DOPEY1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dopey family.
  • Belongs to the dopey family.
genes like me logo Genes that share domains with DOPEY1: view

Function for DOPEY1 Gene

Molecular function for DOPEY1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in protein traffic between late Golgi and early endosomes.

Phenotypes From GWAS Catalog for DOPEY1 Gene

genes like me logo Genes that share phenotypes with DOPEY1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DOPEY1 Gene

Localization for DOPEY1 Gene

Subcellular locations from

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 DOPEY1 gene
Compartment Confidence
golgi apparatus 4
endosome 4
plasma membrane 3
cytosol 3
nucleus 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOPEY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA --
GO:0005802 trans-Golgi network IBA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with DOPEY1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DOPEY1 Gene

Pathways & Interactions for DOPEY1 Gene

SuperPathways for DOPEY1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DOPEY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006895 Golgi to endosome transport ISS,IBA --
GO:0007029 endoplasmic reticulum organization ISS --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DOPEY1: view

No data available for Pathways by source and SIGNOR curated interactions for DOPEY1 Gene

Drugs & Compounds for DOPEY1 Gene

No Compound Related Data Available

Transcripts for DOPEY1 Gene

mRNA/cDNA for DOPEY1 Gene

(17) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DOPEY1 Gene

Dopey family member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOPEY1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: -

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40
SP1: - - -

Relevant External Links for DOPEY1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DOPEY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOPEY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DOPEY1 Gene

This gene is overexpressed in Liver (33.0) and Urine (30.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOPEY1 Gene

Protein tissue co-expression partners for DOPEY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOPEY1 Gene:


SOURCE GeneReport for Unigene cluster for DOPEY1 Gene:


Evidence on tissue expression from TISSUES for DOPEY1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with DOPEY1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DOPEY1 Gene

Orthologs for DOPEY1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOPEY1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DOPEY1 34 33
  • 99.43 (n)
(Canis familiaris)
Mammalia DOPEY1 34 33
  • 93.21 (n)
(Bos Taurus)
Mammalia DOPEY1 34 33
  • 91.87 (n)
(Monodelphis domestica)
Mammalia DOPEY1 34
  • 91 (a)
(Mus musculus)
Mammalia Dopey1 16 34 33
  • 89.36 (n)
(Rattus norvegicus)
Mammalia Dopey1 33
  • 89.19 (n)
(Ornithorhynchus anatinus)
Mammalia DOPEY1 34
  • 87 (a)
(Gallus gallus)
Aves DOPEY1 34 33
  • 80.16 (n)
(Anolis carolinensis)
Reptilia DOPEY1 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dopey1 33
  • 78.4 (n)
Str.18856 33
(Danio rerio)
Actinopterygii dopey1 34 33
  • 67.49 (n)
Dr.18790 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4902 33
fruit fly
(Drosophila melanogaster)
Insecta CG15099 34 33
  • 48.31 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007605 33
  • 48.14 (n)
(Caenorhabditis elegans)
Secernentea pad-1 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOP1 36 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
-- 34
  • 29 (a)
Species where no ortholog for DOPEY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for DOPEY1 Gene

Gene Tree for DOPEY1 (if available)
Gene Tree for DOPEY1 (if available)
Evolutionary constrained regions (ECRs) for DOPEY1: view image

Paralogs for DOPEY1 Gene

Paralogs for DOPEY1 Gene

(1) SIMAP similar genes for DOPEY1 Gene using alignment to 8 proteins:

  • B3KT12_HUMAN
  • F6U2K4_HUMAN
  • H0UI10_HUMAN
  • H0UI11_HUMAN
  • Q5TA12_HUMAN
  • S4R3Y1_HUMAN
genes like me logo Genes that share paralogs with DOPEY1: view

Variants for DOPEY1 Gene

Sequence variations from dbSNP and Humsavar for DOPEY1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs267608261 pathogenic, Immunodeficiency 23, Hyper-IgE syndrome 83,170,340(+) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs34873318 benign, Immunodeficiency 23 83,170,380(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs587777413 pathogenic, Immunodeficiency 23 83,170,343(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
VAR_036607 A breast cancer sample p.Asp1155His
rs143654268 uncertain-significance, not specified 83,169,251(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DOPEY1 Gene

Variant ID Type Subtype PubMed ID
esv3407297 CNV insertion 20981092
esv3609773 CNV loss 21293372
nsv1026095 CNV gain 25217958

Variation tolerance for DOPEY1 Gene

Residual Variation Intolerance Score: 1.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.03; 80.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOPEY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOPEY1 Gene

Disorders for DOPEY1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DOPEY1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 23
  • imd23
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DOPEY1

genes like me logo Genes that share disorders with DOPEY1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOPEY1 Gene

Publications for DOPEY1 Gene

  1. Mon2, a relative of large Arf exchange factors, recruits Dop1 to the Golgi apparatus. (PMID: 16301316) Gillingham AK … Munro S (The Journal of biological chemistry 2006) 2 3 58
  2. C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome. (PMID: 16303751) Rachidi M … Delabar JM (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a member of a novel family of leucine zipper-like proteins conserved from yeast to humans. (PMID: 10931277) Pascon RC … Miller BL (Molecular microbiology 2000) 2 3 58
  5. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58

Products for DOPEY1 Gene

Sources for DOPEY1 Gene

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