Dele1 DAP3 binding cell death enhancer 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dele1provided by MGI
Official Full Name: DAP3 binding cell death enhancer 1provided by MGI
Primary source: MGI:MGI:1914089
See related: Ensembl:ENSMUSG00000024442 AllianceGenome:MGI:1914089
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dele; DELE1(L); Kiaa0141; 0610009O20Rik; 2700004E22Rik
Summary: Predicted to enable protein kinase binding activity and protein serine/threonine kinase activator activity. Predicted to be involved in several processes, including HRI-mediated signaling; positive regulation of mitophagy; and response to iron ion starvation. Located in mitochondrion. Is expressed in heart. Orthologous to human DELE1 (DAP3 binding cell death enhancer 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart adult (RPKM 66.6), adrenal adult (RPKM 62.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 B3; 18 20.15 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (38383302..38395682)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (38250249..38262629)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dele and Cdc6 G-quadruplex formation is significant in the transcriptional regulation. Dele and Cdc6 G-quadruplex DNA alone possess enhancer and promotor function.
Title: Identification of G-quadruplex structures that possess transcriptional regulating functions in the Dele and Cdc6 CpG islands.
Functionally characterizes the human homolog as a DAP3-binding protein involved in apoptosis mediated by death receptors.
Title: Identification of DELE, a novel DAP3-binding protein which is crucial for death receptor-mediated apoptosis induction.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in HRI-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in HRI-mediated signaling	ISO Inferred from Sequence Orthology more info
involved_in HRI-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISS Inferred from Sequence or Structural Similarity more info
involved_in integrated stress response signaling	ISO Inferred from Sequence Orthology more info
involved_in integrated stress response signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitophagy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitophagy	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in response to iron ion starvation	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion starvation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: DAP3-binding cell death enhancer 1

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

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)

NM_024179.5 → NP_077141.2 DAP3-binding cell death enhancer 1

See identical proteins and their annotated locations for NP_077141.2

Status: VALIDATED

Source sequence(s)

AK002437, AK009400, AU257559, BY193394

Consensus CDS

CCDS50260.1

UniProtKB/Swiss-Prot

Q6A0B8, Q9DCV6

UniProtKB/TrEMBL

Q3TAH8

Related

ENSMUSP00000025314.6, ENSMUST00000025314.7

Conserved Domains (3) summary

smart00671
Location:278 → 313

SEL1; Sel1-like repeats

COG0790
Location:175 → 431

TPR; TPR repeat [Signal transduction mechanisms]

sd00010
Location:261 → 290

SLR; SLR repeat [structural motif]