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

Gene ID: 9812, updated on 11-Apr-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 HRI-mediated signaling; extrinsic apoptotic signaling pathway via death domain receptors; and regulation of cysteine-type endopeptidase activity involved in apoptotic process. Located in cytosol and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 16.6), spleen (RPKM 16.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q31.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141923871..141942047)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142449834..142468003)
105.20220307 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
  • 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. 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. Sui L, et al. Int J Oncol, 2023 Jan. PMID 36382667, Free PMC Article
  2. The Mitochondrial PHB2/OMA1/DELE1 Pathway Cooperates with Endoplasmic Reticulum Stress to Facilitate the Response to Chemotherapeutics in Ovarian Cancer. Cheng M, et al. Int J Mol Sci, 2022 Jan 25. PMID 35163244, Free PMC Article
  3. A pathway coordinated by DELE1 relays mitochondrial stress to the cytosol. Fessler E, et al. Nature, 2020 Mar. PMID 32132706, Free PMC Article
  4. Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway. Guo X, et al. Nature, 2020 Mar. PMID 32132707, Free PMC Article
  5. Identification of DELE, a novel DAP3-binding protein which is crucial for death receptor-mediated apoptosis induction. Harada T, et al. Apoptosis, 2010 Oct. PMID 20563667

See all (24) citations in PubMed

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)

Genotypes

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 serine/threonine kinase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in HRI-mediated signaling 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 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 TAS
Traceable Author Statement
more info
  
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 
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_2023_10

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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