Human Gene DEDD (ENST00000458050.6) from GENCODE V44
  Description: Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA. (from RefSeq NM_001039712)
RefSeq Summary (NM_001039712): This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000458050.6
Gencode Gene: ENSG00000158796.17
Transcript (Including UTRs)
   Position: hg38 chr1:161,120,977-161,132,466 Size: 11,490 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr1:161,122,147-161,124,462 Size: 2,316 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:161,120,977-161,132,466)mRNA (may differ from genome)Protein (318 aa)
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-  Comments and Description Text from UniProtKB
  ID: DEDD_HUMAN
DESCRIPTION: RecName: Full=Death effector domain-containing protein; AltName: Full=DEDPro1; AltName: Full=Death effector domain-containing testicular molecule; AltName: Full=FLDED-1;
FUNCTION: A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity).
SUBUNIT: Interacts with CASP8, CASP10, KRT8, KRT18, CASP3 and FADD. Homodimerizes and heterodimerizes with DEDD2.
INTERACTION: Q06481:APLP2; NbExp=3; IntAct=EBI-1043164, EBI-79306;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus (By similarity). Note=Translocated to the nucleus during CD95-mediated apoptosis where it is localized in the nucleoli (By similarity). Following apoptosis induction, the mono and/or diubiquitination form increases and forms filamentous structures that colocalize with KRT8 and KRT18 intermediate filament network in simple epithelial cells.
TISSUE SPECIFICITY: Widely expressed with highest levels in testis.
PTM: Exists predominantly in a mono- or diubiquitinated form.
SIMILARITY: Contains 1 DED (death effector) domain.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: DEDD
Diseases sorted by gene-association score: teeth hard tissue disease (2), ideomotor apraxia (2), mouth disease (2), agraphia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.52 RPKM in Testis
Total median expression: 461.07 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 -54.80173-0.317 Picture PostScript Text
3' UTR -337.501170-0.288 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
IPR011029 - DEATH-like
IPR001875 - DED

Pfam Domains:
PF01335 - Death effector domain

ModBase Predicted Comparative 3D Structure on O75618
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0007283 spermatogenesis
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0042981 regulation of apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF213844 - JP 2014500723-A/21347: Polycomb-Associated Non-Coding RNAs.
MA449421 - JP 2018138019-A/21347: Polycomb-Associated Non-Coding RNAs.
CU692313 - Synthetic construct Homo sapiens gateway clone IMAGE:100021307 3' read NIT1 mRNA.
LF205459 - JP 2014500723-A/12962: Polycomb-Associated Non-Coding RNAs.
MA441036 - JP 2018138019-A/12962: Polycomb-Associated Non-Coding RNAs.
AK001497 - Homo sapiens cDNA FLJ10635 fis, clone NT2RP2005669, highly similar to Homo sapiens mRNA for DEDD protein.
JD326446 - Sequence 307470 from Patent EP1572962.
JD048971 - Sequence 29995 from Patent EP1572962.
JD045017 - Sequence 26041 from Patent EP1572962.
JD164520 - Sequence 145544 from Patent EP1572962.
JD095610 - Sequence 76634 from Patent EP1572962.
JD334767 - Sequence 315791 from Patent EP1572962.
JD208404 - Sequence 189428 from Patent EP1572962.
JD390622 - Sequence 371646 from Patent EP1572962.
JD556206 - Sequence 537230 from Patent EP1572962.
BC013910 - Homo sapiens death effector domain containing, mRNA (cDNA clone MGC:2003 IMAGE:3504847), complete cds.
AK022531 - Homo sapiens cDNA FLJ12469 fis, clone NT2RM1000874, highly similar to Death effector domain-containing protein.
BC016724 - Homo sapiens death effector domain containing, mRNA (cDNA clone MGC:24448 IMAGE:4077893), complete cds.
JD234395 - Sequence 215419 from Patent EP1572962.
JD220455 - Sequence 201479 from Patent EP1572962.
JD486693 - Sequence 467717 from Patent EP1572962.
JD231671 - Sequence 212695 from Patent EP1572962.
JD544881 - Sequence 525905 from Patent EP1572962.
JD378889 - Sequence 359913 from Patent EP1572962.
JD419487 - Sequence 400511 from Patent EP1572962.
JD111835 - Sequence 92859 from Patent EP1572962.
JD072685 - Sequence 53709 from Patent EP1572962.
JD067091 - Sequence 48115 from Patent EP1572962.
JD554893 - Sequence 535917 from Patent EP1572962.
JD398098 - Sequence 379122 from Patent EP1572962.
JD250903 - Sequence 231927 from Patent EP1572962.
AF043733 - Homo sapiens death effector domain-containing testicular molecule mRNA, complete cds.
AF064605 - Homo sapiens KE05 protein mRNA, complete cds.
AK296629 - Homo sapiens cDNA FLJ52135 complete cds, highly similar to Death effector domain-containing protein.
JD428074 - Sequence 409098 from Patent EP1572962.
JD413962 - Sequence 394986 from Patent EP1572962.
JF432647 - Synthetic construct Homo sapiens clone IMAGE:100073884 death effector domain containing (DEDD) gene, encodes complete protein.
KJ892708 - Synthetic construct Homo sapiens clone ccsbBroadEn_02102 DEDD gene, encodes complete protein.
AF083236 - Homo sapiens FLDED1 mRNA, complete cds.
AF100341 - Homo sapiens death effector domain-containing protein DEDPRO1 (DEDPRO1) mRNA, complete cds.
AJ010973 - Homo sapiens mRNA for DEDD protein.
CR536556 - Homo sapiens full open reading frame cDNA clone RZPDo834E1120D for gene DEDD, death effector domain containing; complete cds, incl. stopcodon.
DQ573444 - Homo sapiens piRNA piR-41556, complete sequence.
LF320733 - JP 2014500723-A/128236: Polycomb-Associated Non-Coding RNAs.
MA556310 - JP 2018138019-A/128236: Polycomb-Associated Non-Coding RNAs.
JD141777 - Sequence 122801 from Patent EP1572962.
JD203122 - Sequence 184146 from Patent EP1572962.
JD330592 - Sequence 311616 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DVF5, DEDD_HUMAN, DEDPRO1, DEFT, ENST00000458050.1, ENST00000458050.2, ENST00000458050.3, ENST00000458050.4, ENST00000458050.5, KE05, NM_001039712, O60737, O75618, uc001fxz.1, uc001fxz.2, uc001fxz.3, uc001fxz.4, uc001fxz.5
UCSC ID: ENST00000458050.6
RefSeq Accession: NM_001039712
Protein: O75618 (aka DEDD_HUMAN)
CCDS: CCDS1219.1

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