Aliases for DOP1A Gene

Aliases for DOP1A Gene

  • DOP1 Leucine Zipper Like Protein A 2 3 5
  • KIAA1117 2 3 4
  • Dopey Family Member 1 2 3
  • Protein Dopey-1 3 4
  • DJ202D23.2 2 3
  • DOPEY1 3 4
  • Homolog Of Yeast DOP1 3
  • DOP1A 5
  • DOP1 3

External Ids for DOP1A Gene

Previous HGNC Symbols for DOP1A Gene

  • KIAA1117
  • DOPEY1

Summaries for DOP1A Gene

GeneCards Summary for DOP1A Gene

DOP1A (DOP1 Leucine Zipper Like Protein A) is a Protein Coding gene. Diseases associated with DOP1A include Immunodeficiency 23. An important paralog of this gene is DOP1B.

UniProtKB/Swiss-Prot Summary for DOP1A Gene

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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DOP1A Gene

Genomics for DOP1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DOP1A 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
GH06J083065 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 636.9 +0.7 656 9 SP1 CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 TFE3 RFX1 IKZF1 DOP1A UBE3D RWDD2A SNAP91 RF00017-5645 lnc-PGM3-1
GH06J083086 Promoter 0.6 EPDnew 600.4 +19.3 19305 0.1 POLR2A ASH2L NR2F1 MAZ TBL1XR1 ATF2 DOP1A lnc-PGM3-1 RF00017-5645 RWDD2A
GH06J083866 Enhancer 1.4 FANTOM5 Ensembl ENCODE 73 +800.4 800435 3.8 ZNF221 PRDM10 ZNF629 IKZF1 ZNF692 ZNF174 JUND ZNF143 NR2C1 ZNF24 CEP162 DOP1A UBE3D RWDD2A PGM3 RIPPLY2 CYB5R4 piR-48364 RF00994-922 MRAP2
GH06J083190 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 32.7 +125.0 124960 5.2 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 NFKBIZ ZNF692 POLR2A RWDD2A PGM3 lnc-ME1-1 DOP1A ME1 lnc-ME1-2 RF00017-5645
GH06J082259 Enhancer 1.1 Ensembl ENCODE 43 -806.6 -806614 4.9 ZNF221 PRDM10 ZNF629 ZNF512 ZNF692 JUND PRDM1 ZIC2 ZSCAN4 PATZ1 DOP1A UBE3D PGM3 IBTK TPBG ENSG00000220537 lnc-IBTK-4 lnc-TPBG-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOP1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOP1A

Genomic Locations for DOP1A Gene

Genomic Locations for DOP1A Gene
chr6:83,067,666-83,171,351
(GRCh38/hg38)
Size:
103,686 bases
Orientation:
Plus strand
chr6:83,777,385-83,881,069
(GRCh37/hg19)
Size:
103,685 bases
Orientation:
Plus strand

Genomic View for DOP1A Gene

Genes around DOP1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOP1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOP1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOP1A Gene

Proteins for DOP1A Gene

  • Protein details for DOP1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JWR5-DOP1_HUMAN
    Recommended name:
    Protein dopey-1
    Protein Accession:
    Q5JWR5
    Secondary Accessions:
    • Q86XV1
    • Q9H5J5
    • Q9NSL4
    • Q9UPN5
    • Q9Y414

    Protein attributes for DOP1A Gene

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

neXtProt entry for DOP1A Gene

Post-translational modifications for DOP1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOP1A Gene

Domains & Families for DOP1A Gene

Gene Families for DOP1A Gene

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

Protein Domains for DOP1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DOP1A Gene

GenScript: Design optimal peptide antigens:
  • DOPEY1 protein (B2RWN9_HUMAN)
  • cDNA FLJ37447 fis, clone BRAWH2010136 (B3KT12_HUMAN)
  • Protein dopey-1 (DOP1_HUMAN)
  • Dopey family member 1, isoform CRA_b (E1P545_HUMAN)
  • Dopey family member 1, isoform CRA_a (E1P546_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5JWR5

UniProtKB/Swiss-Prot:

DOP1_HUMAN :
  • Belongs to the dopey family.
Family:
  • Belongs to the dopey family.
genes like me logo Genes that share domains with DOP1A: view

Function for DOP1A Gene

Molecular function for DOP1A Gene

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

Phenotypes From GWAS Catalog for DOP1A Gene

genes like me logo Genes that share phenotypes with DOP1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOP1A

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 DOP1A Gene

Localization for DOP1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOP1A Gene

Golgi apparatus membrane. Peripheral membrane protein.

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 DOP1A gene
Compartment Confidence
endosome 4
golgi apparatus 4
plasma membrane 3
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for DOP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS,IEA --
GO:0005768 endosome IBA 21873635
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IBA 21873635
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with DOP1A: view

Pathways & Interactions for DOP1A Gene

PathCards logo

SuperPathways for DOP1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for DOP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006895 Golgi to endosome transport ISS,IEA --
GO:0007029 endoplasmic reticulum organization ISS --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DOP1A: view

No data available for Pathways by source and SIGNOR curated interactions for DOP1A Gene

Drugs & Compounds for DOP1A Gene

No Compound Related Data Available

Transcripts for DOP1A Gene

mRNA/cDNA for DOP1A Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 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 DOP1A

Alternative Splicing Database (ASD) splice patterns (SP) for DOP1A Gene

No ASD Table

Relevant External Links for DOP1A Gene

GeneLoc Exon Structure for
DOP1A

Expression for DOP1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DOP1A

SOURCE GeneReport for Unigene cluster for DOP1A Gene:

Hs.520246

Evidence on tissue expression from TISSUES for DOP1A Gene

  • Nervous system(4.8)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 DOP1A Gene

Orthologs for DOP1A Gene

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

Orthologs for DOP1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DOPEY1 30 31
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DOPEY1 30 31
  • 93.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DOPEY1 30 31
  • 91.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DOPEY1 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dopey1 30 31
  • 89.36 (n)
OneToOne
Dop1a 17
Rat
(Rattus norvegicus)
Mammalia Dopey1 30
  • 89.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DOPEY1 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DOPEY1 30 31
  • 80.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DOPEY1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dopey1 30
  • 78.4 (n)
Str.18856 30
Zebrafish
(Danio rerio)
Actinopterygii dopey1 30 31
  • 67.49 (n)
OneToOne
Dr.18790 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4902 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG15099 30 31
  • 48.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007605 30
  • 48.14 (n)
Worm
(Caenorhabditis elegans)
Secernentea pad-1 31
  • 26 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOP1 31 33 33
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
Species where no ortholog for DOP1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

Evolution for DOP1A Gene

ENSEMBL:
Gene Tree for DOP1A (if available)
TreeFam:
Gene Tree for DOP1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DOP1A: view image

Paralogs for DOP1A Gene

Paralogs for DOP1A Gene

genes like me logo Genes that share paralogs with DOP1A: view

Variants for DOP1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DOP1A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
646876 Uncertain Significance: Immunodeficiency 23 83,170,334(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
653071 Uncertain Significance: Immunodeficiency 23 83,169,253(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
681218 Benign: not provided 83,170,448(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
760535 Benign: Immunodeficiency 23 83,170,377(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
798910 Likely Benign: Immunodeficiency 23 83,170,449(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DOP1A Gene

Structural Variations from Database of Genomic Variants (DGV) for DOP1A Gene

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

Variation tolerance for DOP1A 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 DOP1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOP1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOP1A Gene

Disorders for DOP1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for DOP1A Gene - From: GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 23
  • imd23
- elite association - COSMIC cancer census association via MalaCards
Search DOP1A in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with DOP1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOP1A Gene

Publications for DOP1A 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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  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

Products for DOP1A Gene

Sources for DOP1A Gene