Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9812
Gene name	DAP3 binding cell death enhancer 1
Gene symbol	DELE1
Synonyms (NCBI Gene)	DELEDELE1(L)KIAA0141
Chromosome	5
Chromosome location	5q31.3

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT736333	hsa-miR-137	Luciferase reporter assayqRT-PCR	31817673

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000423	Process	Mitophagy	IDA	38340717
GO:0005515	Function	Protein binding	IPI	20563667, 25416956, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10942595, 20563667, 32132706
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	37327776
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	32132707
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005829	Component	Cytosol	IDA	32132706, 32132707
GO:0005829	Component	Cytosol	IDA	32132706, 32132707
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	37832546
GO:0006974	Process	DNA damage response	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IDA	20563667
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IPI	32132706, 32132707
GO:0033554	Process	Cellular response to stress	IDA	32132706, 32132707, 38340717
GO:0043539	Function	Protein serine/threonine kinase activator activity	IBA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	32132706, 32132707, 37327776, 37550454, 37832546, 38340717
GO:0051260	Process	Protein homooligomerization	IDA	37550454
GO:0070585	Process	Protein localization to mitochondrion	IDA	38340717
GO:0140467	Process	Integrated stress response signaling	IDA	32132706, 32132707
GO:0140468	Process	HRI-mediated signaling	IBA
GO:0140468	Process	HRI-mediated signaling	IDA	32132706, 32132707
GO:0140468	Process	HRI-mediated signaling	IDA	32132706, 32132707, 37327776, 37550454, 37832546, 38340717
GO:1901526	Process	Positive regulation of mitophagy	IDA	38340717
GO:1990641	Process	Response to iron ion starvation	IDA	37327776

MIM	HGNC	e!Ensembl
615741	28969	ENSG00000081791

Q14154

Protein name

DAP3-binding cell death enhancer 1 (DAP3-binding cell death enhancer 1, long form) (DELE1(L)) (Death ligand signal enhancer) [Cleaved into: DAP3-binding cell death enhancer 1 short form (DELE1(S)) (S-DELE1) (cDELE1)]

Protein function

Protein kinase activator that acts as a key activator of the integrated stress response (ISR) following various stresses, such as iron deficiency, mitochondrial stress or mitochondrial DNA breaks (PubMed:32132706, PubMed:32132707, PubMed:3538801

PDB

8D9X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08238	Sel1	245 → 276	Sel1 repeat	Repeat
PF08238	Sel1	277 → 312	Sel1 repeat	Repeat
PF08238	Sel1	313 → 350	Sel1 repeat	Repeat
PF08238	Sel1	385 → 420	Sel1 repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon. {ECO:0000269|PubMed:8590280}.

Sequence

MWRLPGLLGRALPRTLGPSLWRVTPKSTSPDGPQTTSSTLLVPVPNLDRSGPHGPGTSGG
PRSHGWKDAFQWMSSRVSPNTLWDAISWGTLAVLALQLARQIHFQASLPAGPQRVEHCSW
HSPLDRFFSSPLWHPCSSLRQHILPSPDGPAPRHTGLREPRLGQEEASAQPRNFSHNSLR
GARPQDPSEEGPGDFGFLHASSSIESEAKPAQPQPTGEKEQDKSKTLSLEEAVTSIQQLF
QLSVSIAFNFLGTENMKSGDHTAAFSYFQKAAARGYSKAQYNAGLCHEHGRGTPRDISKA
VLYYQLAASQGHSLAQYRYARCLLRDPASSWNPERQRAVSLLKQAADSGLREAQAFLGVL
FTKEPYLDEQRAVKYLWLAANNGDSQSRYHLGICYEKGLGVQRNLGEALRCYQQSAALGN
EAAQERLRALFSMGAAAPGPSDLTVTGLKSFSSPSLCSLNTLLAGTSRLPHASSTGNLGL
LCRSGHLGASLEASSRAIPPHPYPLERSVVRLGFG

Sequence length

515

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36382667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18280224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32132707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DELE1 (DAP3 binding cell death enhancer 1)