Aliases for DELE1 Gene

Aliases for DELE1 Gene

  • DAP3 Binding Cell Death Enhancer 1 2 3 5
  • Death Ligand Signal Enhancer 2 3 4
  • KIAA0141 2 3 4
  • DELE 3 4
  • DAP3-Binding Cell Death Enhancer 1 4

External Ids for DELE1 Gene

Previous HGNC Symbols for DELE1 Gene

  • KIAA0141

Previous GeneCards Identifiers for DELE1 Gene

  • GC05P142466
  • GC05P142574
  • GC05P142682
  • GC05P142289
  • GC05P142362

Summaries for DELE1 Gene

GeneCards Summary for DELE1 Gene

DELE1 (DAP3 Binding Cell Death Enhancer 1) is a Protein Coding gene. Diseases associated with DELE1 include Oropharyngeal Anthrax and Stereotypic Movement Disorder. An important paralog of this gene is SEL1L3.

UniProtKB/Swiss-Prot Summary for DELE1 Gene

  • Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation.

Additional gene information for DELE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DELE1 Gene

Genomics for DELE1 Gene

GeneHancer (GH) Regulatory Elements for DELE1 Gene

Promoters and enhancers for DELE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DELE1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DELE1

Genomic Locations for DELE1 Gene

Genomic Locations for DELE1 Gene
chr5:141,923,785-141,951,465
(GRCh38/hg38)
Size:
27,681 bases
Orientation:
Plus strand
chr5:141,303,373-141,321,612
(GRCh37/hg19)
Size:
18,240 bases
Orientation:
Plus strand

Genomic View for DELE1 Gene

Genes around DELE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DELE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DELE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DELE1 Gene

Proteins for DELE1 Gene

  • Protein details for DELE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14154-DELE1_HUMAN
    Recommended name:
    DAP3-binding cell death enhancer 1
    Protein Accession:
    Q14154
    Secondary Accessions:
    • Q969R4
    • Q96EU9

    Protein attributes for DELE1 Gene

    Size:
    515 amino acids
    Molecular mass:
    55920 Da
    Quaternary structure:
    • Interacts with DAP3.
    SequenceCaution:
    • Sequence=BAA09490.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for DELE1 Gene

Post-translational modifications for DELE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for DELE1 Gene

Domains & Families for DELE1 Gene

Gene Families for DELE1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DELE1 Gene

Blocks:
  • Sel1-like repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DELE1 Gene

GenScript: Design optimal peptide antigens:
  • Death ligand signal enhancer (DELE_HUMAN)
genes like me logo Genes that share domains with DELE1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DELE1 Gene

Function for DELE1 Gene

Molecular function for DELE1 Gene

UniProtKB/Swiss-Prot Function:
Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation.

Phenotypes From GWAS Catalog for DELE1 Gene

Gene Ontology (GO) - Molecular Function for DELE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20563667
genes like me logo Genes that share ontologies with DELE1: view
genes like me logo Genes that share phenotypes with DELE1: view

Animal Model Products

CRISPR Products

miRNA for DELE1 Gene

miRTarBase miRNAs that target DELE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DELE1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DELE1 Gene

Localization for DELE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DELE1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DELE1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DELE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 10942595
genes like me logo Genes that share ontologies with DELE1: view

Pathways & Interactions for DELE1 Gene

PathCards logo

SuperPathways for DELE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DELE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IBA,IDA 20563667
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA,IBA 20563667
genes like me logo Genes that share ontologies with DELE1: view

No data available for Pathways by source and SIGNOR curated interactions for DELE1 Gene

Drugs & Compounds for DELE1 Gene

No Compound Related Data Available

Transcripts for DELE1 Gene

mRNA/cDNA for DELE1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DELE1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DELE1 Gene

No ASD Table

Relevant External Links for DELE1 Gene

GeneLoc Exon Structure for
DELE1

Expression for DELE1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DELE1

mRNA Expression by UniProt/SwissProt for DELE1 Gene:

Q14154-DELE1_HUMAN
Tissue specificity: Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon.

Evidence on tissue expression from TISSUES for DELE1 Gene

  • Nervous system(4.8)
  • Bone marrow(4.3)
  • Lung(2.5)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DELE1 Gene

Orthologs for DELE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DELE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0141 31 30
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0141 31 30
  • 86.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0141 31 30
  • 84.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia 0610009O20Rik 31 30
  • 79.29 (n)
OneToOne
Dele1 17
rat
(Rattus norvegicus)
Mammalia RGD735029 30
  • 78.96 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA0141 31
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0141 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0141 30
  • 67.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0141 30
  • 49.55 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:158257 31 30
  • 47.12 (n)
OneToOne
Species where no ortholog for DELE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DELE1 Gene

ENSEMBL:
Gene Tree for DELE1 (if available)
TreeFam:
Gene Tree for DELE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DELE1: view image

Paralogs for DELE1 Gene

Paralogs for DELE1 Gene

genes like me logo Genes that share paralogs with DELE1: view

Variants for DELE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DELE1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
715334 Likely Benign: not provided 141,945,692(+) C/G MISSENSE_VARIANT
735954 Likely Benign: not provided 141,951,510(+) G/A SYNONYMOUS_VARIANT
760047 Likely Benign: not provided 141,945,715(+) A/G MISSENSE_VARIANT
768040 Benign: not provided 141,945,390(+) C/CCTGCTGCTG INFRAME_INSERTION
769662 Benign: not provided 141,945,390(+) C/CCTGCTG INFRAME_INSERTION

Additional dbSNP identifiers (rs#s) for DELE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DELE1 Gene

Variant ID Type Subtype PubMed ID
esv2667575 CNV deletion 23128226
nsv1117586 CNV deletion 24896259
nsv1154058 CNV deletion 26484159
nsv599924 CNV gain 21841781

Variation tolerance for DELE1 Gene

Residual Variation Intolerance Score: 61.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.85; 89.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DELE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DELE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DELE1 Gene

Disorders for DELE1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DELE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
oropharyngeal anthrax
stereotypic movement disorder
  • stereotyped repetitive movements
in situ pulmonary adenocarcinoma
  • bronchioalveolar carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search DELE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DELE1

genes like me logo Genes that share disorders with DELE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DELE1 Gene

Publications for DELE1 Gene

  1. Identification of DELE, a novel DAP3-binding protein which is crucial for death receptor-mediated apoptosis induction. (PMID: 20563667) Harada T … Miyazaki T (Apoptosis : an international journal on programmed cell death 2010) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

Products for DELE1 Gene

Sources for DELE1 Gene