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

Gene ID: 9812, updated on 11-Sep-2019

Summary

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
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; KIAA0141
Expression
Ubiquitous expression in heart (RPKM 16.6), spleen (RPKM 16.6) and 25 other tissues See more
Orthologs

Genomic context

See DELE1 in Genome Data Viewer
Location:
5q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (141923871..141952031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141303350..141330027)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin 1 Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene protocadherin 12 Neighboring gene ring finger protein 14 Neighboring gene glucosamine-6-phosphate deaminase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0141

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
death ligand signal enhancer

NCBI Reference Sequences (RefSeq)

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_001142603.3NP_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
    Related
    ENSP00000194118.4, ENST00000194118.8
    Conserved Domains (3) summary
    smart00671
    Location:277312
    SEL1; Sel1-like repeats
    COG0790
    Location:228430
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  2. NM_014773.5NP_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
    Related
    ENSP00000396225.2, ENST00000432126.7
    Conserved Domains (3) summary
    smart00671
    Location:277312
    SEL1; Sel1-like repeats
    COG0790
    Location:228430
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    141923871..141952031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446274.1XP_024302042.1  death ligand signal enhancer isoform X3

    Conserved Domains (2) summary
    COG0790
    Location:228383
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  2. XM_024446275.1XP_024302043.1  death ligand signal enhancer isoform X3

    Related
    ENSP00000422686.1, ENST00000508751.1
    Conserved Domains (2) summary
    COG0790
    Location:228383
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  3. XM_005268547.4XP_005268604.1  death ligand signal enhancer isoform X1

    See identical proteins and their annotated locations for XP_005268604.1

    UniProtKB/Swiss-Prot
    Q14154
    Conserved Domains (3) summary
    smart00671
    Location:277312
    SEL1; Sel1-like repeats
    COG0790
    Location:228430
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  4. XM_005268548.4XP_005268605.1  death ligand signal enhancer isoform X1

    See identical proteins and their annotated locations for XP_005268605.1

    UniProtKB/Swiss-Prot
    Q14154
    Conserved Domains (3) summary
    smart00671
    Location:277312
    SEL1; Sel1-like repeats
    COG0790
    Location:228430
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  5. XM_005268552.3XP_005268609.1  death ligand signal enhancer isoform X4

    Conserved Domains (3) summary
    smart00671
    Location:277312
    SEL1; Sel1-like repeats
    COG0790
    Location:228383
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  6. XM_011537715.2XP_011536017.1  death ligand signal enhancer isoform X2

    Conserved Domains (3) summary
    smart00671
    Location:277312
    SEL1; Sel1-like repeats
    COG0790
    Location:228388
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:260289
    SLR; SLR repeat [structural motif]
  7. XM_011537716.3XP_011536018.1  death ligand signal enhancer isoform X5

  8. XM_006714812.3XP_006714875.1  death ligand signal enhancer isoform X6

    Related
    ENSP00000426138.2, ENST00000507481.2
    Conserved Domains (3) summary
    smart00671
    Location:2257
    SEL1; Sel1-like repeats
    COG0790
    Location:9183
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:534
    SLR; SLR repeat [structural motif]

RNA

  1. XR_002956201.1 RNA Sequence

  2. XR_002956202.1 RNA Sequence

  3. XR_001742389.2 RNA Sequence

  4. XR_001742390.2 RNA Sequence

  5. XR_427782.3 RNA Sequence

  6. XR_001742388.2 RNA Sequence

  7. XR_245861.4 RNA Sequence

  8. XR_427783.3 RNA Sequence

  9. XR_001742391.2 RNA Sequence

  10. XR_002956200.1 RNA Sequence

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