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

Gene ID: 9191, updated on 1-Jun-2020

Summary

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
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; 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

Genomic context

See DEDD in Genome Data Viewer
Location:
1q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161120974..161132783, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161090767..161103192, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch domain containing 9 Neighboring gene prefoldin subunit 2 Neighboring gene nitrilase 1 Neighboring gene linc-UFC1 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 Neighboring gene ubiquitin specific peptidase 21

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extrinsic apoptotic signaling pathway via death domain receptors IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
death effector domain-containing protein
Names
DEDPro1
FLDED-1
death effector domain-containing testicular molecule

NCBI Reference Sequences (RefSeq)

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_001039711.1NP_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
    O75618
    Related
    ENSP00000445835.1, ENST00000545495.5
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD
  2. NM_001039712.1NP_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
    O75618
    Related
    ENSP00000414821.2, ENST00000458050.6
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD
  3. NM_001330765.2NP_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
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD
  4. NM_032998.3NP_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
    O75618
    Related
    ENSP00000356985.3, ENST00000368006.8
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161120974..161132783 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245600.3XP_005245657.1  death effector domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_005245657.1

    UniProtKB/TrEMBL
    B1AQP5
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD
  2. XM_005245599.3XP_005245656.1  death effector domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_005245656.1

    UniProtKB/TrEMBL
    B1AQP5
    Related
    ENSP00000356984.1, ENST00000368005.5
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD
  3. XM_017002802.2XP_016858291.1  death effector domain-containing protein isoform X2

    UniProtKB/Swiss-Prot
    O75618
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD
  4. XM_005245598.5XP_005245655.1  death effector domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_005245655.1

    UniProtKB/TrEMBL
    B1AQP5
    Conserved Domains (1) summary
    cd08790
    Location:22118
    DED_DEDD; Death Effector Domain of DEDD

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.
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