Human Gene DIDO1 (uc002ydr.2)
  Description: Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.
RefSeq Summary (NM_001193369): Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr20:61,509,090-61,557,903 Size: 48,814 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr20:61,510,585-61,542,964 Size: 32,380 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:61,509,090-61,557,903)mRNA (may differ from genome)Protein (2240 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DIDO1_HUMAN
DESCRIPTION: RecName: Full=Death-inducer obliterator 1; Short=DIO-1; Short=hDido1; AltName: Full=Death-associated transcription factor 1; Short=DATF-1;
FUNCTION: Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). Note=Translocates to the nucleus after pro-apoptotic stimuli (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
MISCELLANEOUS: Defects in DIDO1 may be a cause of myeloid neoplasms.
SIMILARITY: Contains 1 PHD-type zinc finger.
SIMILARITY: Contains 1 TFIIS central domain.
SEQUENCE CAUTION: Sequence=BAA20791.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DIDO1
CDC HuGE Published Literature: DIDO1
Positive Disease Associations: migraine
Related Studies:
  1. migraine
    Mochi, M. et al. 2003, A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes., Neurological sciences. 2003 Feb;23(6):301-5. [PubMed 12624717]
    Our data indicate that MO, but not MA, shows significant genetic association with DRD4.

-  MalaCards Disease Associations
  MalaCards Gene Search: DIDO1
Diseases sorted by gene-association score: colorectal adenoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C553817 7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one
  • C547126 AZM551248
  • D000535 Aluminum
  • D001554 Benzene
  • D001564 Benzo(a)pyrene
  • D019256 Cadmium Chloride
  • D002794 Choline
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.23 RPKM in Uterus
Total median expression: 408.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -125.31312-0.402 Picture PostScript Text
3' UTR -377.001495-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012921 - SPOC_C
IPR003618 - TFIIS_cen_dom
IPR017890 - TFS2M
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00628 - PHD-finger
PF07500 - Transcription factor S-II (TFIIS), central domain
PF07744 - SPOC domain

SCOP Domains:
46942 - Elongation factor TFIIS domain 2
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q9BTC0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006915 apoptotic process
GO:0097190 apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AL133063 - Homo sapiens mRNA; cDNA DKFZp434P1115 (from clone DKFZp434P1115); partial cds.
AY481572 - Homo sapiens death inducer-obliterator-3 (DIDO3) mRNA, complete cds.
BC012757 - Homo sapiens chromosome 20 open reading frame 158, mRNA (cDNA clone IMAGE:3630351).
JD263390 - Sequence 244414 from Patent EP1572962.
JD088083 - Sequence 69107 from Patent EP1572962.
JD048609 - Sequence 29633 from Patent EP1572962.
JD511416 - Sequence 492440 from Patent EP1572962.
JD214411 - Sequence 195435 from Patent EP1572962.
JD501011 - Sequence 482035 from Patent EP1572962.
JD539540 - Sequence 520564 from Patent EP1572962.
JD462711 - Sequence 443735 from Patent EP1572962.
JD420047 - Sequence 401071 from Patent EP1572962.
JD055413 - Sequence 36437 from Patent EP1572962.
JD058559 - Sequence 39583 from Patent EP1572962.
JD373448 - Sequence 354472 from Patent EP1572962.
JD289361 - Sequence 270385 from Patent EP1572962.
KJ906067 - Synthetic construct Homo sapiens clone ccsbBroadEn_15737 DIDO1 gene, encodes complete protein.
JD418213 - Sequence 399237 from Patent EP1572962.
JD328606 - Sequence 309630 from Patent EP1572962.
JD191257 - Sequence 172281 from Patent EP1572962.
JD064955 - Sequence 45979 from Patent EP1572962.
JD535394 - Sequence 516418 from Patent EP1572962.
JD157408 - Sequence 138432 from Patent EP1572962.
JD135114 - Sequence 116138 from Patent EP1572962.
JD480017 - Sequence 461041 from Patent EP1572962.
JD123729 - Sequence 104753 from Patent EP1572962.
JD334708 - Sequence 315732 from Patent EP1572962.
JD302094 - Sequence 283118 from Patent EP1572962.
JD383816 - Sequence 364840 from Patent EP1572962.
JD457808 - Sequence 438832 from Patent EP1572962.
JD409582 - Sequence 390606 from Patent EP1572962.
JD390019 - Sequence 371043 from Patent EP1572962.
JD227918 - Sequence 208942 from Patent EP1572962.
JD195492 - Sequence 176516 from Patent EP1572962.
JD465183 - Sequence 446207 from Patent EP1572962.
JD448139 - Sequence 429163 from Patent EP1572962.
JD043708 - Sequence 24732 from Patent EP1572962.
JD449480 - Sequence 430504 from Patent EP1572962.
JD218275 - Sequence 199299 from Patent EP1572962.
JD386309 - Sequence 367333 from Patent EP1572962.
JD266067 - Sequence 247091 from Patent EP1572962.
JD150702 - Sequence 131726 from Patent EP1572962.
JD187627 - Sequence 168651 from Patent EP1572962.
JD056854 - Sequence 37878 from Patent EP1572962.
JD405125 - Sequence 386149 from Patent EP1572962.
JD083845 - Sequence 64869 from Patent EP1572962.
JD258668 - Sequence 239692 from Patent EP1572962.
JD053856 - Sequence 34880 from Patent EP1572962.
JD253255 - Sequence 234279 from Patent EP1572962.
JD460229 - Sequence 441253 from Patent EP1572962.
AY481571 - Homo sapiens death inducer-obliterator-2 (DIDO2) mRNA, complete cds.
AB002331 - Homo sapiens KIAA0333 mRNA.
BC137177 - Homo sapiens death inducer-obliterator 1, mRNA (cDNA clone MGC:168797 IMAGE:9021174), complete cds.
AB385309 - Synthetic construct DNA, clone: pF1KA0333, Homo sapiens DIDO1 gene for death-inducer obliterator 1, complete cds, without stop codon, in Flexi system.
JD550640 - Sequence 531664 from Patent EP1572962.
BC014615 - Homo sapiens cDNA clone IMAGE:3532298, containing frame-shift errors.
AK002127 - Homo sapiens cDNA FLJ11265 fis, clone PLACE1009158.
BC014489 - Homo sapiens death inducer-obliterator 1, mRNA (cDNA clone IMAGE:4901057), complete cds.
BC000770 - Homo sapiens death inducer-obliterator 1, mRNA (cDNA clone IMAGE:3506207), complete cds.
BC004237 - Homo sapiens death inducer-obliterator 1, mRNA (cDNA clone IMAGE:2959493), complete cds.
KJ902197 - Synthetic construct Homo sapiens clone ccsbBroadEn_11591 DIDO1 gene, encodes complete protein.
KJ893224 - Synthetic construct Homo sapiens clone ccsbBroadEn_02618 DIDO1 gene, encodes complete protein.
DQ893020 - Synthetic construct clone IMAGE:100005650; FLH191734.01X; RZPDo839G0577D death inducer-obliterator 1 (DIDO1) gene, encodes complete protein.
DQ896265 - Synthetic construct Homo sapiens clone IMAGE:100010725; FLH191730.01L; RZPDo839G0567D death inducer-obliterator 1 (DIDO1) gene, encodes complete protein.
CU674396 - Synthetic construct Homo sapiens gateway clone IMAGE:100017696 5' read DIDO1 mRNA.
CU678624 - Synthetic construct Homo sapiens gateway clone IMAGE:100017409 5' read DIDO1 mRNA.
JD074292 - Sequence 55316 from Patent EP1572962.
JD093484 - Sequence 74508 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BTC0 (Reactome details) participates in the following event(s):

R-HSA-1221632 Meiotic synapsis
R-HSA-1500620 Meiosis
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8MY65, B9EH82, C20orf158, DATF1, DIDO1_HUMAN, E1P5I1, KIAA0333, NM_001193369, NP_149072, O15043, Q3ZTL7, Q3ZTL8, Q4VXS1, Q4VXS2, Q4VXV8, Q4VXV9, Q96D72, Q9BQW0, Q9BTC0, Q9BW03, Q9H4G6, Q9H4G7, Q9NTU8, Q9NUM8, Q9UFB6
UCSC ID: uc002ydr.2
RefSeq Accession: NM_001193369
Protein: Q9BTC0 (aka DIDO1_HUMAN)
CCDS: CCDS33506.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001193369.1
exon count: 16CDS single in 3' UTR: no RNA size: 8548
ORF size: 6723CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 13619.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.