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

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

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DEDD in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161120974..161132667, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160258449..160270142, complement)
    RS_2024_09 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

    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

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001039711.2NP_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:22118
      DED_DEDD; Death Effector Domain of DEDD
    2. NM_001039712.2NP_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: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, B3KMS4
      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
      D3DVF5, O60737, O75618
      UniProtKB/TrEMBL
      B3KMS4
      Related
      ENSP00000356985.3, ENST00000368006.8
      Conserved Domains (1) summary
      cd08790
      Location:22118
      DED_DEDD; Death Effector Domain of DEDD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_005245600.4XP_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:22118
      DED_DEDD; Death Effector Domain of DEDD
    2. XM_005245599.4XP_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:22118
      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_054339601.1XP_054195576.1  death effector domain-containing protein isoform X1

      UniProtKB/TrEMBL
      B1AQP5, B3KMS4
    2. XM_054339600.1XP_054195575.1  death effector domain-containing protein isoform X1

      UniProtKB/TrEMBL
      B1AQP5, B3KMS4

    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.