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DEDD death effector domain containing [ Homo sapiens (human) ]

Gene ID: 9191, updated on 3-Apr-2024

Summary

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Official Symbol
DEDDprovided by HGNC
Official Full Name
death effector domain containingprovided by HGNC
Primary source
HGNC:HGNC:2755
See related
Ensembl:ENSG00000158796 MIM:606841; AllianceGenome:HGNC:2755
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEFT; KE05; DEDD1; FLDED1; DEDPro1; FLDED-1; CASP8IP1
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 12.8), placenta (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161120974..161132667, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160258449..160270142, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161090764..161102457, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene kelch domain containing 9 Neighboring gene prefoldin subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161087283-161088263 Neighboring gene nitrilase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161093620-161094120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161101327-161102150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1977 Neighboring gene linc-UFC1 Neighboring gene small nucleolar RNA ACA64

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Nuclear localization of DEDD leads to caspase-6 activation through its death effector domain and inhibition of RNA polymerase I dependent transcription. Schickling O, et al. Cell Death Differ, 2001 Dec. PMID 11753564
  2. MCL1 and DEDD Promote Urothelial Carcinoma Progression. Hong AL, et al. Mol Cancer Res, 2019 Jun. PMID 30777879, Free PMC Article
  3. MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer. Wu DM, et al. Int J Biochem Cell Biol, 2018 Sep. PMID 29953965
  4. DEDD interacts with PI3KC3 to activate autophagy and attenuate epithelial-mesenchymal transition in human breast cancer. Lv Q, et al. Cancer Res, 2012 Jul 1. PMID 22719072
  5. DEDD negatively regulates transforming growth factor-beta1 signaling by interacting with Smad3. Xue JF, et al. FEBS Lett, 2010 Jul 16. PMID 20553715

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identify MCL1 and DEDD as genes that contribute to aggressive urothelial carcinomas.
    Title: MCL1 and DEDD Promote Urothelial Carcinoma Progression.
  2. MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer
    Title: MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer.
  3. DEDD protein role in cell proliferation and migration of bladder cancer
    Title: miR-24-3p regulates bladder cancer cell proliferation, migration, invasion and autophagy by targeting DEDD.
  4. Via direct interaction with the class III PI-3-kinase (PI3KC3)/Beclin1, DEDD activated autophagy and induced the degradation of Snail and Twist, two master regulators of EMT
    Title: DEDD interacts with PI3KC3 to activate autophagy and attenuate epithelial-mesenchymal transition in human breast cancer.
  5. FAS-associated death domain (FADD)-DED-induced reactive oxygen species (ROS) generation is triggered by membrane localization of FADD-DED, which shifts the cells into a state that stimulates and fuels ROS and ultimately results in cell death.
    Title: Localization of the death effector domain of Fas-associated death domain protein into the membrane of Escherichia coli induces reactive oxygen species-involved cell death.
  6. DEDD forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC
    Title: Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC.
  7. DEDD and DEDD2 may be important mediators for death receptors and that they may target caspases to the nucleus.
    Title: DEDD and DEDD2 associate with caspase-8/10 and signal cell death.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in decidualization IEA
Inferred from Electronic Annotation
more info
  
involved_in extrinsic apoptotic signaling pathway via death domain receptors IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
death effector domain-containing protein
Names
death effector domain-containing testicular molecule

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039711.2 → NP_001034800.1  death effector domain-containing protein isoform b

    See identical proteins and their annotated locations for NP_001034800.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 3, and 4 all encode the same isoform (b).
    Source sequence(s)
    AL591806, BC013910
    Consensus CDS
    CCDS1219.1
    UniProtKB/Swiss-Prot
    D3DVF5, O60737, O75618
    UniProtKB/TrEMBL
    B3KMS4
    Related
    ENSP00000445835.1, ENST00000545495.5
    Conserved Domains (1) summary
    cd08790
    Location:22 → 118
    DED_DEDD; Death Effector Domain of DEDD

  2. NM_001039712.2 → NP_001034801.1  death effector domain-containing protein isoform b

    See identical proteins and their annotated locations for NP_001034801.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 3, and 4 all encode the same isoform (b).
    Source sequence(s)
    AL591806, BC013910, BG565440
    Consensus CDS
    CCDS1219.1
    UniProtKB/Swiss-Prot
    D3DVF5, O60737, O75618
    UniProtKB/TrEMBL
    B3KMS4
    Related
    ENSP00000414821.2, ENST00000458050.6
    Conserved Domains (1) summary
    cd08790
    Location:22 → 118
    DED_DEDD; Death Effector Domain of DEDD

  3. NM_001330765.2 → NP_001317694.1  death effector domain-containing protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL591806
    Consensus CDS
    CCDS81391.1
    UniProtKB/TrEMBL
    B1AQP5, B3KMS4
    Conserved Domains (1) summary
    cd08790
    Location:22 → 118
    DED_DEDD; Death Effector Domain of DEDD

  4. NM_032998.3 → NP_127491.1  death effector domain-containing protein isoform b

    See identical proteins and their annotated locations for NP_127491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 1, 3, and 4 all encode the same isoform (b).
    Source sequence(s)
    AL591806, BC013910
    Consensus CDS
    CCDS1219.1
    UniProtKB/Swiss-Prot
    D3DVF5, O60737, O75618
    UniProtKB/TrEMBL
    B3KMS4
    Related
    ENSP00000356985.3, ENST00000368006.8
    Conserved Domains (1) summary
    cd08790
    Location:22 → 118
    DED_DEDD; Death Effector Domain of DEDD

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161120974..161132667 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245600.4 → XP_005245657.1  death effector domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_005245657.1

    UniProtKB/TrEMBL
    B1AQP5, B3KMS4
    Conserved Domains (1) summary
    cd08790
    Location:22 → 118
    DED_DEDD; Death Effector Domain of DEDD

  2. XM_005245599.4 → XP_005245656.1  death effector domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_005245656.1

    UniProtKB/TrEMBL
    B1AQP5, B3KMS4
    Related
    ENSP00000356984.1, ENST00000368005.5
    Conserved Domains (1) summary
    cd08790
    Location:22 → 118
    DED_DEDD; Death Effector Domain of DEDD

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160258449..160270142 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339601.1 → XP_054195576.1  death effector domain-containing protein isoform X1

    UniProtKB/TrEMBL
    B1AQP5

  2. XM_054339600.1 → XP_054195575.1  death effector domain-containing protein isoform X1

    UniProtKB/TrEMBL
    B1AQP5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004216.2: Suppressed sequence

    Description
    NM_004216.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75618.1 GenPept UniProtKB/Swiss-Prot:O75618

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