Human Gene DELE1 (uc003lls.3)
  Description: Homo sapiens DELE1 (DELE1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr5:141,303,385-141,321,612 Size: 18,228 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr5:141,303,507-141,318,324 Size: 14,818 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:141,303,385-141,321,612)mRNA (may differ from genome)Protein (515 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DELE_HUMAN
DESCRIPTION: RecName: Full=Death ligand signal enhancer; Flags: Precursor;
FUNCTION: Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation.
SUBUNIT: Interacts with DAP3.
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon.
SIMILARITY: Contains 7 TPR repeats.
SEQUENCE CAUTION: Sequence=BAA09490.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.04 RPKM in Brain - Cerebellum
Total median expression: 816.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.10122-0.452 Picture PostScript Text
3' UTR -869.392495-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006597 - Sel1-like
IPR011990 - TPR-like_helical

Pfam Domains:
PF08238 - Sel1 repeat

SCOP Domains:
81901 - HCP-like
48452 - TPR-like

ModBase Predicted Comparative 3D Structure on Q14154
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006915 apoptotic process
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BC007855 - Homo sapiens KIAA0141, mRNA (cDNA clone MGC:14335 IMAGE:4298364), complete cds.
D50931 - Homo sapiens mRNA for KIAA0141 gene.
JD403837 - Sequence 384861 from Patent EP1572962.
AK292869 - Homo sapiens cDNA FLJ77539 complete cds.
BC011926 - Homo sapiens KIAA0141, mRNA (cDNA clone MGC:20343 IMAGE:4543650), complete cds.
BC035486 - Homo sapiens KIAA0141, mRNA (cDNA clone IMAGE:4824836).
JD200503 - Sequence 181527 from Patent EP1572962.
JD444301 - Sequence 425325 from Patent EP1572962.
BC010452 - Homo sapiens KIAA0141, mRNA (cDNA clone MGC:18199 IMAGE:4155782), complete cds.
BC011269 - Homo sapiens KIAA0141, mRNA (cDNA clone MGC:18198 IMAGE:4155755), complete cds.
CU680118 - Synthetic construct Homo sapiens gateway clone IMAGE:100020725 5' read KIAA0141 mRNA.
AB383764 - Synthetic construct DNA, clone: pF1KSDA0141, Homo sapiens KIAA0141 gene for KIAA0141 protein, complete cds, without stop codon, in Flexi system.
HQ447976 - Synthetic construct Homo sapiens clone IMAGE:100071342; CCSB007098_03 KIAA0141 (KIAA0141) gene, encodes complete protein.
KJ898098 - Synthetic construct Homo sapiens clone ccsbBroadEn_07492 KIAA0141 gene, encodes complete protein.
KJ898099 - Synthetic construct Homo sapiens clone ccsbBroadEn_07493 KIAA0141 gene, encodes complete protein.
JD265598 - Sequence 246622 from Patent EP1572962.
JD130005 - Sequence 111029 from Patent EP1572962.
JD122985 - Sequence 104009 from Patent EP1572962.
JD239010 - Sequence 220034 from Patent EP1572962.
JD078827 - Sequence 59851 from Patent EP1572962.
JD479220 - Sequence 460244 from Patent EP1572962.
JD269759 - Sequence 250783 from Patent EP1572962.
JD537144 - Sequence 518168 from Patent EP1572962.
JD553121 - Sequence 534145 from Patent EP1572962.
JD266757 - Sequence 247781 from Patent EP1572962.
JD425707 - Sequence 406731 from Patent EP1572962.
JD501037 - Sequence 482061 from Patent EP1572962.
AK093504 - Homo sapiens cDNA FLJ36185 fis, clone TESTI2026936.
AX748172 - Sequence 1697 from Patent EP1308459.
JD540177 - Sequence 521201 from Patent EP1572962.
JD328922 - Sequence 309946 from Patent EP1572962.
JD058494 - Sequence 39518 from Patent EP1572962.
JD395876 - Sequence 376900 from Patent EP1572962.
JD143253 - Sequence 124277 from Patent EP1572962.
JD376668 - Sequence 357692 from Patent EP1572962.
JD399252 - Sequence 380276 from Patent EP1572962.
JD400053 - Sequence 381077 from Patent EP1572962.
JD159734 - Sequence 140758 from Patent EP1572962.
JD251269 - Sequence 232293 from Patent EP1572962.
JD526758 - Sequence 507782 from Patent EP1572962.
JD143285 - Sequence 124309 from Patent EP1572962.
JD187189 - Sequence 168213 from Patent EP1572962.
JD359040 - Sequence 340064 from Patent EP1572962.
JD465194 - Sequence 446218 from Patent EP1572962.
JD036624 - Sequence 17648 from Patent EP1572962.
JD214643 - Sequence 195667 from Patent EP1572962.
JD186481 - Sequence 167505 from Patent EP1572962.
JD302817 - Sequence 283841 from Patent EP1572962.
JD482363 - Sequence 463387 from Patent EP1572962.
JD244389 - Sequence 225413 from Patent EP1572962.
JD312445 - Sequence 293469 from Patent EP1572962.
JD121579 - Sequence 102603 from Patent EP1572962.
JD382960 - Sequence 363984 from Patent EP1572962.
JD523187 - Sequence 504211 from Patent EP1572962.
JD406249 - Sequence 387273 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DELE, DELE_HUMAN, KIAA0141, NM_001142603, NP_055588, Q14154, Q969R4, Q96EU9
UCSC ID: uc003lls.3
RefSeq Accession: NM_001142603
Protein: Q14154 (aka DELE_HUMAN)
CCDS: CCDS4268.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001142603.1
exon count: 13CDS single in 3' UTR: no RNA size: 4195
ORF size: 1548CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3296.00frame shift in genome: no % Coverage: 99.28
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.