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Aliases for DEDD Gene

Aliases for DEDD Gene

  • Death Effector Domain Containing 2 3 5
  • Death Effector Domain-Containing Testicular Molecule 3 4
  • DEDPro1 3 4
  • FLDED-1 3 4
  • DEFT 3 4
  • Death Effector Domain-Containing Protein 3
  • Death Effector Domain-Containing 2
  • CASP8IP1 3
  • FLDED1 3
  • DEDD1 3
  • KE05 3

External Ids for DEDD Gene

Previous GeneCards Identifiers for DEDD Gene

  • GC01M158802
  • GC01M156823
  • GC01M157868
  • GC01M158308
  • GC01M158309
  • GC01M157903
  • GC01M159357
  • GC01M161090
  • GC01M132448

Summaries for DEDD Gene

Entrez Gene Summary for DEDD Gene

  • 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]

GeneCards Summary for DEDD Gene

DEDD (Death Effector Domain Containing) is a Protein Coding gene. Diseases associated with DEDD include Teeth Hard Tissue Disease and Ideomotor Apraxia. An important paralog of this gene is DEDD2.

UniProtKB/Swiss-Prot for DEDD Gene

  • 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).

Gene Wiki entry for DEDD Gene

Additional gene information for DEDD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEDD Gene

Genomics for DEDD Gene

Regulatory Elements for DEDD Gene

Enhancers for DEDD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H161096 1.2 ENCODE 65.2 +35.1 35105 2 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 ZNF302 USP21 DUSP12 PPOX LOC100287049 DEDD RPSAP18 LOC148430 DCAF8 NCSTN COPA
GH01H161130 1.2 ENCODE 60.1 +0.4 403 3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 USP21 DUSP12 LOC100287049 DEDD PPOX B4GALT3 NCSTN ATF6 DCAF8 COPA
GH01H161011 1.8 FANTOM5 ENCODE dbSUPER 34.3 +115.6 115570 11 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC DUSP12 USP21 LOC100287049 DEDD TSTD1 LOC148430 PPOX ARHGAP30 KLHDC9 B4GALT3
GH01H161611 2 FANTOM5 Ensembl ENCODE dbSUPER 28.2 -479.5 -479518 2 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF766 ZNF143 SP3 SP5 USP21 DEDD FCGR2B DUSP12 B4GALT3 ATF6 FCGR2C PPOX FCGR3B HSPA6
GH01H161399 1.4 ENCODE dbSUPER 37.4 -266.7 -266655 3 MLX DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 GLIS1 NBN USP21 SDHC DEDD B4GALT3 ATF6 PPOX ENSG00000238934 DUSP12 ENSG00000224985 ENSG00000227818
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEDD on UCSC Golden Path with GeneCards custom track

Genomic Location for DEDD Gene

Chromosome:
1
Start:
161,120,974 bp from pter
End:
161,132,783 bp from pter
Size:
11,810 bases
Orientation:
Minus strand

Genomic View for DEDD Gene

Genes around DEDD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DEDD Gene

Proteins for DEDD Gene

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

    Protein Symbol:
    O75618-DEDD_HUMAN
    Recommended name:
    Death effector domain-containing protein
    Protein Accession:
    O75618
    Secondary Accessions:
    • D3DVF5
    • O60737

    Protein attributes for DEDD Gene

    Size:
    318 amino acids
    Molecular mass:
    36794 Da
    Quaternary structure:
    • Interacts with CASP8, CASP10, KRT8, KRT18, CASP3 and FADD. Homodimerizes and heterodimerizes with DEDD2.

    Alternative splice isoforms for DEDD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEDD Gene

Post-translational modifications for DEDD Gene

  • Exists predominantly in a mono- or diubiquitinated form.
  • Ubiquitination at posLast=237237
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DEDD Gene

Domains & Families for DEDD Gene

Gene Families for DEDD Gene

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

Protein Domains for DEDD Gene

Suggested Antigen Peptide Sequences for DEDD Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DEDD: view

No data available for UniProtKB/Swiss-Prot for DEDD Gene

Function for DEDD Gene

Molecular function for DEDD Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for DEDD Gene

Gene Ontology (GO) - Molecular Function for DEDD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding ISS --
GO:0005515 protein binding IPI 15688372
genes like me logo Genes that share ontologies with DEDD: view
genes like me logo Genes that share phenotypes with DEDD: view

Animal Models for DEDD Gene

MGI Knock Outs for DEDD:

Animal Model Products

CRISPR Products

miRNA for DEDD Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEDD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DEDD Gene

Localization for DEDD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEDD Gene

Cytoplasm. Nucleus, nucleolus. 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. {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 DEDD gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DEDD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus TAS,ISS --
GO:0005737 cytoplasm ISS,TAS --
genes like me logo Genes that share ontologies with DEDD: view

Pathways & Interactions for DEDD Gene

No Data Available

Gene Ontology (GO) - Biological Process for DEDD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0007283 spermatogenesis TAS 9832420
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IBA --
genes like me logo Genes that share ontologies with DEDD: view

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

Drugs & Compounds for DEDD Gene

No Compound Related Data Available

Transcripts for DEDD Gene

Unigene Clusters for DEDD Gene

Death effector domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEDD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5: - - -
SP6: - - -
SP7: - - - - -
SP8:
SP9: - - - - -
SP10: - - - -
SP11:

Relevant External Links for DEDD Gene

GeneLoc Exon Structure for
DEDD
ECgene alternative splicing isoforms for
DEDD

Expression for DEDD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of DEDD Gene:

DEDD

SOURCE GeneReport for Unigene cluster for DEDD Gene:

Hs.744092

mRNA Expression by UniProt/SwissProt for DEDD Gene:

O75618-DEDD_HUMAN
Tissue specificity: Widely expressed with highest levels in testis.

Evidence on tissue expression from TISSUES for DEDD Gene

  • Lymph node(4.3)
  • Bone marrow(4.2)
  • Spleen(4.2)
  • Blood(4.1)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with DEDD: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEDD Gene

Orthologs for DEDD Gene

This gene was present in the common ancestor of chordates.

Orthologs for DEDD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEDD 33 34
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 95 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DEDD 33 34
  • 94.98 (n)
dog
(Canis familiaris)
Mammalia DEDD 33 34
  • 94.44 (n)
mouse
(Mus musculus)
Mammalia Dedd 33 16 34
  • 93.71 (n)
rat
(Rattus norvegicus)
Mammalia Dedd 33
  • 93.29 (n)
chicken
(Gallus gallus)
Aves DEDD 33 34
  • 80.61 (n)
lizard
(Anolis carolinensis)
Reptilia DEDD 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dedd 33
  • 76.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8419 33
zebrafish
(Danio rerio)
Actinopterygii dedd 33 34
  • 71.36 (n)
Dr.16145 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1276 33
Species where no ortholog for DEDD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 DEDD Gene

ENSEMBL:
Gene Tree for DEDD (if available)
TreeFam:
Gene Tree for DEDD (if available)

Paralogs for DEDD Gene

Paralogs for DEDD Gene

(1) SIMAP similar genes for DEDD Gene using alignment to 3 proteins:

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

Variants for DEDD Gene

Sequence variations from dbSNP and Humsavar for DEDD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000079342 -- 161,128,461(+) CCTGG(C/T)GTGGT intron-variant
rs1000153866 -- 161,132,967(+) TGGTG(A/G)CGCCA intron-variant, upstream-variant-2KB
rs1000495381 -- 161,131,529(+) TATAG(A/G)GTTCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000893680 -- 161,121,235(+) GTGGG(C/T)GTAGG intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1001560087 -- 161,124,615(+) TGCCT(A/G)GCACA intron-variant, utr-variant-3-prime

Variation tolerance for DEDD Gene

Residual Variation Intolerance Score: 33.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEDD Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DEDD Gene

Disorders for DEDD Gene

MalaCards: The human disease database

(4) MalaCards diseases for DEDD Gene - From: DISEASES

Disorder Aliases PubMed IDs
teeth hard tissue disease
ideomotor apraxia
  • classic apraxia [ambiguous]
mouth disease
  • abnormality of the mouth
agraphia
- elite association - COSMIC cancer census association via MalaCards
Search DEDD in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEDD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEDD
genes like me logo Genes that share disorders with DEDD: view

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

Publications for DEDD Gene

  1. DEFT, a novel death effector domain-containing molecule predominantly expressed in testicular germ cells. (PMID: 9832420) Leo CP … Hsueh AJ (Endocrinology 1998) 2 3 4 22 60
  2. DEDD, a novel death effector domain-containing protein, targeted to the nucleolus. (PMID: 9774341) Stegh AH … Peter ME (The EMBO journal 1998) 2 3 4 22 60
  3. Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC. (PMID: 11965497) Zhan Y … Alnemri ES (Cell death and differentiation 2002) 3 4 22 60
  4. DEDD regulates degradation of intermediate filaments during apoptosis. (PMID: 12235123) Lee JC … Peter ME (The Journal of cell biology 2002) 3 4 22 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60

Products for DEDD Gene

Sources for DEDD Gene

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