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    DELE1 DAP3 binding cell death enhancer 1 [ Homo sapiens (human) ]

    Gene ID: 9812, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DELE1provided by HGNC
    Official Full Name
    DAP3 binding cell death enhancer 1provided by HGNC
    Primary source
    HGNC:HGNC:28969
    See related
    Ensembl:ENSG00000081791 MIM:615741; AllianceGenome:HGNC:28969
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DELE; DELE1(L); KIAA0141
    Summary
    Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in several processes, including HRI-mediated signaling; positive regulation of mitophagy; and response to iron ion starvation. Located in mitochondrial inner membrane. Is active in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 16.6), spleen (RPKM 16.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DELE1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141923871..141942047)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142449834..142468003)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141303436..141321612)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141243287-141243787 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:141244239-141244418 Neighboring gene protocadherin 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141252448-141253170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141256273-141256957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141257224-141257973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141262003-141262885 Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141293283-141293820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141303317-141303830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141308886-141309386 Neighboring gene protocadherin 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141336627-141337533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141337534-141338439 Neighboring gene uncharacterized LOC124901095 Neighboring gene ring finger protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23314

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML.
      Title: DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML.
    2. DELE1 is protective for mitochondrial cardiomyopathy.
      Title: DELE1 is protective for mitochondrial cardiomyopathy.
    3. Death associated protein3 (DAP3) and DAP3 binding cell death enhancer1 (DELE1) in human colorectal cancer, and their impacts on clinical outcome and chemoresistance.
      Title: Death associated protein‑3 (DAP3) and DAP3 binding cell death enhancer‑1 (DELE1) in human colorectal cancer, and their impacts on clinical outcome and chemoresistance.
    4. The Mitochondrial PHB2/OMA1/DELE1 Pathway Cooperates with Endoplasmic Reticulum Stress to Facilitate the Response to Chemotherapeutics in Ovarian Cancer.
      Title: The Mitochondrial PHB2/OMA1/DELE1 Pathway Cooperates with Endoplasmic Reticulum Stress to Facilitate the Response to Chemotherapeutics in Ovarian Cancer.
    5. mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway; the OMA1-DELE1-HRI pathway represents a potential therapeutic target that could enable fine-tuning of the integrated stress response for beneficial outcomes in diseases that involve mitochondrial dysfunction
      Title: Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway.
    6. the mitochondrial protease OMA1 and the poorly characterized protein DELE1, together with HRI, constitute the missing pathway that is triggered by mitochondrial stress; these findings could be used to inform future strategies to modulate the cellular response to mitochondrial dysfunction in the context of human disease
      Title: A pathway coordinated by DELE1 relays mitochondrial stress to the cytosol.
    7. identifies a novel DAP3-binding protein termed death ligand signal enhancer (DELE); demonstrates the biological significance of DELE for apoptosis signal mediated by death receptors
      Title: Identification of DELE, a novel DAP3-binding protein which is crucial for death receptor-mediated apoptosis induction.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0141

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in HRI-mediated signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in integrated stress response signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mitophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to iron ion starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    death ligand signal enhancer
    Names
    DAP3-binding cell death enhancer 1, long form

    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_001142603.3 → NP_001136075.1  death ligand signal enhancer precursor

      See identical proteins and their annotated locations for NP_001136075.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is alternatively spliced at the 3' end and is missing a segment of the 3' UTR compared to variant 1. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA760689, AC005740, CN307416, KC877127
      Consensus CDS
      CCDS4268.1
      UniProtKB/Swiss-Prot
      Q14154, Q969R4, Q96EU9
      UniProtKB/TrEMBL
      A8KA04
      Related
      ENSP00000194118.4, ENST00000194118.8
      Conserved Domains (3) summary
      smart00671
      Location:277 → 312
      SEL1; Sel1-like repeats
      COG0790
      Location:228 → 430
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:260 → 289
      SLR; SLR repeat [structural motif]

    2. NM_014773.5 → NP_055588.3  death ligand signal enhancer precursor

      See identical proteins and their annotated locations for NP_055588.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer and the predominant transcript. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA760689, AC005740, BC035486, CN307416, KC877127
      Consensus CDS
      CCDS4268.1
      UniProtKB/Swiss-Prot
      Q14154, Q969R4, Q96EU9
      UniProtKB/TrEMBL
      A8KA04
      Related
      ENSP00000396225.2, ENST00000432126.7
      Conserved Domains (3) summary
      smart00671
      Location:277 → 312
      SEL1; Sel1-like repeats
      COG0790
      Location:228 → 430
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:260 → 289
      SLR; SLR repeat [structural motif]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      141923871..141942047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268552.3 → XP_005268609.1  death ligand signal enhancer isoform X3

      UniProtKB/TrEMBL
      D6RBI8
      Related
      ENSP00000422686.1, ENST00000508751.1
      Conserved Domains (3) summary
      smart00671
      Location:277 → 312
      SEL1; Sel1-like repeats
      COG0790
      Location:228 → 383
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:260 → 289
      SLR; SLR repeat [structural motif]

    2. XM_005268547.5 → XP_005268604.1  death ligand signal enhancer isoform X1

      See identical proteins and their annotated locations for XP_005268604.1

      UniProtKB/Swiss-Prot
      Q14154, Q969R4, Q96EU9
      UniProtKB/TrEMBL
      A8KA04
      Conserved Domains (3) summary
      smart00671
      Location:277 → 312
      SEL1; Sel1-like repeats
      COG0790
      Location:228 → 430
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:260 → 289
      SLR; SLR repeat [structural motif]

    3. XM_011537715.3 → XP_011536017.1  death ligand signal enhancer isoform X2

      Conserved Domains (3) summary
      smart00671
      Location:277 → 312
      SEL1; Sel1-like repeats
      COG0790
      Location:228 → 388
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:260 → 289
      SLR; SLR repeat [structural motif]

    4. XM_011537716.4 → XP_011536018.1  death ligand signal enhancer isoform X4

    5. XM_006714812.4 → XP_006714875.1  death ligand signal enhancer isoform X5

      UniProtKB/TrEMBL
      H0YA48
      Related
      ENSP00000426138.2, ENST00000507481.2
      Conserved Domains (3) summary
      smart00671
      Location:22 → 57
      SEL1; Sel1-like repeats
      COG0790
      Location:9 → 183
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:5 → 34
      SLR; SLR repeat [structural motif]

    RNA

    1. XR_001742388.2 RNA Sequence

    2. XR_427783.3 RNA Sequence

    3. XR_007058666.1 RNA Sequence

    4. XR_007058667.1 RNA Sequence

    5. XR_007058665.1 RNA Sequence

    6. XR_007058664.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      142449834..142468003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353914.1 → XP_054209889.1  death ligand signal enhancer isoform X3

    2. XM_054353912.1 → XP_054209887.1  death ligand signal enhancer isoform X1

      UniProtKB/Swiss-Prot
      Q14154, Q969R4, Q96EU9

    3. XM_054353913.1 → XP_054209888.1  death ligand signal enhancer isoform X2

    4. XM_054353915.1 → XP_054209890.1  death ligand signal enhancer isoform X4

    5. XM_054353916.1 → XP_054209891.1  death ligand signal enhancer isoform X5

    RNA

    1. XR_008487203.1 RNA Sequence

    2. XR_008487204.1 RNA Sequence

    3. XR_008487207.1 RNA Sequence

    4. XR_008487208.1 RNA Sequence

    5. XR_008487206.1 RNA Sequence

    6. XR_008487205.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14154.3 GenPept UniProtKB/Swiss-Prot:Q14154

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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