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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIAA0141 Gene

protein-coding   GIFtS: 48
GCID: GC05P141328

KIAA0141

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
KIAA01411 2
Death Ligand Signal Enhancer1 2
DELE2 3

External Ids:    HGNC: 289691   Entrez Gene: 98122   Ensembl: ENSG000000817917   UniProtKB: Q141543   

Export aliases for KIAA0141 gene to outside databases

Previous GC identifers: GC05P141124 GC05P141886 GC05P141286 GC05P141331 GC05P141283 GC05P136446 GC05P141323


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for KIAA0141 Gene: 
KIAA0141 (KIAA0141) is a protein-coding gene. Diseases associated with KIAA0141 include thyroiditis. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: DELE_HUMAN, Q14154
Function: Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase
activation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0141 gene promoter:
         C/EBPbeta   NRSF form 1   NF-E2 p45   NRSF form 2   POU2F1   POU2F1a   HOXA5   NF-E2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA0141

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0141


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.3   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31

KIAA0141 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0141 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P141328:  view genomic region     (about GC identifiers)

Start:
141,303,373 bp from pter      End:
141,321,612 bp from pter
Size:
18,240 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DELE_HUMAN, Q14154 (See protein sequence)
Recommended Name: Death ligand signal enhancer precursor  
Size: 515 amino acids; 55920 Da
Subunit: Interacts with DAP3
Subcellular location: Mitochondrion
Sequence caution: Sequence=BAA09490.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q969R4 Q96EU9

Explore the universe of human proteins at neXtProt for KIAA0141: NX_Q14154

Explore proteomics data for KIAA0141 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14154

  • KIAA0141 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA0141 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001136075.1  NP_055588.3  

    ENSEMBL proteins: 
     ENSP00000396225   ENSP00000194118   ENSP00000422686   ENSP00000426138  

    Human Recombinant Protein Products for KIAA0141: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA10942595

    KIAA0141 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR006597 Sel1-like

    Graphical View of Domain Structure for InterPro Entry Q14154

    ProtoNet protein and cluster: Q14154

    1 Blocks protein domain: IPB006597 Sel1-like repeat

    UniProtKB/Swiss-Prot: DELE_HUMAN, Q14154
    Similarity: Contains 7 TPR repeats


    KIAA0141 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DELE_HUMAN, Q14154
    Function: Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase
    activation

         Genatlas biochemistry entry for KIAA0141:
    putative protein,expressed in fetal heart and kidney

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    KIAA0141 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidKIAA0141 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0141

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008625extrinsic apoptotic signaling pathway via death domain receptors IDA--
    GO:0043281regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA--

    KIAA0141 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIAA0141 (DELE)

    Search CenterWatch for drugs/clinical trials and news about KIAA0141 / DELE

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0141 gene (2 alternative transcripts): 
    NM_001142603.1  NM_014773.3  

    Unigene Cluster for KIAA0141:

    KIAA0141
    Hs.210532  [show with all ESTs]
    Unigene Representative Sequence: NM_014773
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432126(uc003lls.3 uc003llt.3) ENST00000194118 ENST00000508751
    ENST00000502729 ENST00000506775 ENST00000507481 ENST00000509110
    miRNA
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    8/48 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA0141 (see all 48):
    hsa-miR-301a hsa-miR-3921 hsa-miR-877* hsa-miR-3122 hsa-miR-133a hsa-miR-3658 hsa-miR-149 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0141 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK093504.1 AK292869.1 BC007855.2 BC010452.1 BC011269.1 BC011926.1 BC035486.1 D50931.1 

    17 DOTS entries:

    DT.218624  DT.97759913  DT.425478  DT.100887426  DT.100887447  DT.100747186  DT.112579  DT.91866801 
    DT.97779154  DT.100695070  DT.120818672  DT.91667479  DT.120818652  DT.40228844  DT.95265537  DT.120818670 
    DT.120818671 

    24/471 AceView cDNA sequences (see all 471):

    BX355511 AI498378 BE900311 AI216400 AA577368 CA306006 NM_014773 AI804870 
    BC011926 BX395698 BE298114 BM982186 AA709394 AA917684 CR590135 AA034508 
    AA854757 BF939298 BQ669349 BE047447 BE221784 AA426596 BI753262 AW207238 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0141 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b ^ 16a ·
    SP1:                                                        -                 -                       -     -     -                                             
    SP2:                                      -     -     -     -                                                                                                   
    SP3:                                                                          -                       -     -     -                                             
    SP4:                                                                                                  -     -     -                                   -         
    SP5:                                                                                                  -     -     -                                             

    ExUns: 16b · 16c · 16d · 16e
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for KIAA0141

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIAA0141 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCAGAAAT
    KIAA0141 Expression
    About this image


    See KIAA0141 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0141

    SOURCE GeneReport for Unigene cluster: Hs.210532

    UniProtKB/Swiss-Prot: DELE_HUMAN, Q14154
    Tissue specificity: Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small
    intestine and colon

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KIAA0141 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610009O20Rik1 , 5 RIKEN cDNA 0610009O20 gene1, 5 79.29(n)1
    74.36(a)1
      18 (20.15 cM)5
    668391  NM_024179.51  NP_077141.21 
     382502495 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1582571 zgc:158257 46.97(n)
    37.05(a)
      790941  NM_001080086.1  NP_001073555.1 


    ENSEMBL Gene Tree for KIAA0141 (if available)
    TreeFam Gene Tree for KIAA0141 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/555 SNPs in KIAA0141 are shown (see all 555)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1838532851,2
    --141301434(+) ATCCAC/TTGTTC 2 -- us2k10--------
    rs1898868191,2
    --141301699(+) CTTAGC/TGTGGT 2 -- us2k10--------
    rs1814832071,2
    --141301707(+) GGTTAA/TGGAAC 2 -- us2k10--------
    rs1869585121,2
    --141301714(+) GAACCA/TGCACA 2 -- us2k10--------
    rs1393161261,2
    --141301715(+) AACCTA/GCACAA 2 -- us2k10--------
    rs765204981,2
    F--141301735(+) CCTACG/CAAGTA 2 -- us2k11Minor allele frequency- C:0.03NA 120
    rs573655771,2
    C,F--141301738(+) ACGAAG/ATAAGC 2 -- us2k11Minor allele frequency- A:0.10WA 118
    rs1497126051,2
    --141301776(+) GGACTA/CCAAAG 2 -- us2k10--------
    rs1155110501,2
    F--141301845(+) GTCTTC/TTCAGA 2 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1917498871,2
    C--141302107(+) AGGCAA/GAGGTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA0141 (141303373 - 141321612 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KIAA0141:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2667575CNV Deletion23128226

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for KIAA0141:    About MalaCards
    thyroiditis    


    KIAA0141 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA0141
    Human Genome Epidemiology (HuGE) Navigator: KIAA0141 (1 document)

    Export disorders for KIAA0141 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KIAA0141 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KIAA0141)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of DELE, a novel DAP3-binding protein which is crucial for death receptor-mediated apoptosis induction. (PubMed id 20563667)1, 2, 3 Harada T....Miyazaki T. (2010)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. 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. (PubMed id 8590280)1, 2 Nagase T....Nomura N. (1995)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. A visual intracellular classification strategy for uncharacterized human proteins. (PubMed id 10942595)1 Hoja M.R....Hoog C. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9812 HGNC: 28969 AceView: KIAA0141 Ensembl:ENSG00000081791 euGenes: HUgn9812
    ECgene: KIAA0141 H-InvDB: KIAA0141

    (According to HUGE)
    About This Section
    HUGE: KIAA0141

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KIAA0141 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIAA0141 gene:
    Search GeneIP for patents involving KIAA0141

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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