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

DTX3L Gene

protein-coding   GIFtS: 50
GCID: GC03P122284

deltex 3-like (Drosophila)

 Explore 4 diseases affiliated with
DTX3L via our new
 Human Malady Compendium 
Biological research products
for DTX3L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Deltex 3-Like (Drosophila)1 2     Rhysin23
BBAP1 2 3 5     EC 6.3.2.-3
B-Lymphoma- And BAL-Associated Protein2 3     Rhysin-23
E3 Ubiquitin-Protein Ligase DTX3L2     Rhysin23
Rhysin 22     Protein Deltex-3-Like3
Rhysin-23     

External Ids:    HGNC: 303231   Entrez Gene: 1516362   Ensembl: ENSG000001638407   OMIM: 6131435   UniProtKB: Q8TDB63   

Export aliases for DTX3L gene to outside databases

Previous GC identifers: GC03P123766 GC03P119656


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

Entrez Gene summary for DTX3L:
DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 (PubMed 12670957)).(supplied by OMIM, Nov 2009)

UniProtKB/Swiss-Prot: DTX3L_HUMAN, Q8TDB6
Function: Ubiquitin ligase that mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1), in response to DNA
damage. Protects cells exposed to DNA-damaging agents. The exact role of H4K91ub1 in DNA damage response is still
unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as
H4 'Lys-20' methylation (H4K20me). Involved in the recruitment of 53BP1/TP53BP1 to sites of DNA damage by mediating
H4K91ub1 formation




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DTX3L gene promoter:
         Bach1   AML1a   Nkx2-5   C/EBPalpha   MZF-1   CP2   GCNF-1   IRF-7A   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDTX3L promoter sequence
   Search SABiosciences Chromatin IP Primers for DTX3L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DTX3L


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

Entrez Gene cytogenetic band: 3q21.1   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21.1

DTX3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTX3L gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P122284:  view genomic region     (about GC identifiers)

Start:
122,283,085 bp from pter      End:
122,294,050 bp from pter
Size:
10,966 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DTX3L_HUMAN, Q8TDB6 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase DTX3L  
Size: 740 amino acids; 83554 Da
Subunit: Homodimer and heterodimer. Can heterodimerize with DTX1, enhancing its ubiquitin ligase activity in vitro.
Interacts with PARP9/BAL1. Found in a complex with MYO6
Subcellular location: Cytoplasm. Nucleus
1 PDB 3D structure from and Proteopedia for DTX3L:
3PG6 (3D)    
Secondary accessions: B3KWH6 Q53ZZ3 Q5MJP7
Alternative splicing: 2 isoforms:  Q8TDB6-1   Q8TDB6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DTX3L: NX_Q8TDB6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TDB6

  • DTX3L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_612144.1  
    ENSEMBL proteins: 
     ENSP00000296161   ENSP00000373157  
    Reactome Protein details: Q8TDB6
    Human Recombinant Protein Products: 
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    Novus Biologicals DTX3L Protein
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    Uscn Proteins for DTX3L

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16809771
    GO:0005737cytoplasm IDA16809771


    DTX3L for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DTX3L for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q8TDB6

    ProtoNet protein and cluster: Q8TDB6

    1 Blocks protein family: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: DTX3L_HUMAN, Q8TDB6
    Similarity: Belongs to the Deltex family
    Similarity: Contains 1 RING-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DTX3L_HUMAN, Q8TDB6
    Function: Ubiquitin ligase that mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1), in response to DNA
    damage. Protects cells exposed to DNA-damaging agents. The exact role of H4K91ub1 in DNA damage response is still
    unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as
    H4 'Lys-20' methylation (H4K20me). Involved in the recruitment of 53BP1/TP53BP1 to sites of DNA damage by mediating
    H4K91ub1 formation
    Induction: By IFNG/IFN-gamma

    Enzyme Number (IUBMB): EC 6.3.2.-1

    miRNA
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    hsa-miR-100* hsa-miR-4251 hsa-miR-4328 hsa-miR-340 hsa-miR-519a hsa-miR-373* hsa-miR-508-5p hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidDTX3L 3' UTR sequence
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA19818714
    GO:0005515protein binding IPI16809771
    GO:0008270zinc ion binding IEA--
    GO:0042393histone binding IDA19818714


    DTX3L for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DTX3L:
     Decreased Hepatitis C virus re  Increased cell death HMECs cel 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation1.00
    Polyubiquitination of substrate0.75
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System1.00
    Adaptive Immune System0.59
    3Notch Signaling Pathway
    Notch Signaling Pathway1.00
    Notch signaling pathway0.82

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for DTX3L 
        Notch Signaling Pathway

    5        Reactome Pathways for DTX3L
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    1         Kegg Pathway  (Kegg details for DTX3L):
        Notch signaling pathway

    UniProtKB/Swiss-Prot: DTX3L_HUMAN, Q8TDB6
    Pathway: Protein modification; protein ubiquitination


    DTX3L for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DTX3L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/41 Interacting proteins for DTX3L (Q8TDB63 ENSP000002961614) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006974response to DNA damage stimulus IMP19818714
    GO:0010390histone monoubiquitination IDA19818714


    DTX3L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 DTX3L
    Search CenterWatch for drugs/clinical trials and news about DTX3L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DTX3L gene: 
    NM_138287.3  

    Unigene Cluster for DTX3L:

    Deltex 3-like (Drosophila)
    Hs.518201  [show with all ESTs]
    Unigene Representative Sequence: BX648267
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296161(uc003efk.3 uc010hrj.3) ENST00000383661

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    hsa-miR-100* hsa-miR-4251 hsa-miR-4328 hsa-miR-340 hsa-miR-519a hsa-miR-373* hsa-miR-508-5p hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidDTX3L 3' UTR sequence
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DTX3L

    Additional cDNA sequence: 

    AF484416.1 AK025135.1 AK056406.1 AK093782.1 AK125086.1 AL833598.1 AY225123.1 AY780792.1 
    BC016846.2 BC040372.1 BC042191.1 BC060509.1 BX648267.1 BX648645.1 

    8 DOTS entries:

    DT.95164903  DT.316670  DT.120924882  DT.100033398  DT.100033874  DT.100793605  DT.100793607  DT.87015902 

    24/195 AceView cDNA sequences (see all 195):

    BC042191 BU686482 AI659256 BU172335 AA577672 AI380800 CB269634 BM467961 
    AF484416 BM769101 AI473584 BQ435134 BQ428321 AY225123 AA301252 BU195281 
    AW772239 BM478541 AA513421 BM454871 BE502052 BP380033 AI520826 N57147 

    GeneLoc Exon Structure


    (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

    DTX3L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGTGGGAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DTX3L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DTX3L

    SOURCE GeneReport for Unigene cluster: Hs.518201
        SABiosciences Custom PCR Arrays for DTX3L
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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 DTX3L gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DTX3L1 deltex 3-like (Drosophila) 53.76(n)
    39.76(a)
      424267  XM_422114.3  XP_422114.3 
    lizard
    (Anolis carolinensis)
    Reptilia DTX3L6
    --
    35(a)
    1 ↔ 1
    1(77444998-77454545)
    zebrafish
    (Danio rerio)
    Actinopterygii CU929378.16
    wu:fi27d056
    (see all 3)
    wu:fi27d05
    (see all 3)
    36(a)
    19(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    24(33101741-33109342)
    11(1550717-1572549)


    ENSEMBL Gene Tree for DTX3L (if available)
    TreeFam Gene Tree for DTX3L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DTX3L gene
    DTX42  DTX12  DTX32  DTX22  
    1 SIMAP similar gene for DTX3L using alignment to 1 protein entry:     DTX3L_HUMAN:
    DTX3

    DTX3L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/165 NCBI SNPs in DTX3L are shown (see all 165    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1811172741,2
    --122285616(+) ACTGCC/GTACTG 1 -- int10--------
    rs622638671,2
    C,--122285672(+) GGCAGA/TCTCGG 1 -- int13Minor allele frequency- T:0.06NA EA 242
    rs99177291,2
    C,F,A,H,--122285701(+) TCTAGT/AGAGAG 1 -- int1 trp313Minor allele frequency- A:0.39NS EA WA NA CSA 787
    rs1400437361,2
    --122285918(+) GAGCTA/GACATT 1 -- int10--------
    rs124862851,2
    C,F,H,--122286160(+) TGAACG/ATAGAA 1 -- int19Minor allele frequency- A:0.21NS EA NA CSA WA 780
    rs117069141,2
    C,H--122286163(+) ACGTAG/TAAAGG 1 -- int1 trp34Minor allele frequency- T:0.00NS EA 416
    rs1449286061,2
    --122286208(+) GGTTGC/TAGTGC 1 -- int10--------
    rs1858920871,2
    --122286276(+) ATGGCG/TGGATT 1 -- int10--------
    rs1898184451,2
    --122286410(+) CTGGCA/GTGTCT 1 -- int10--------
    rs1824229791,2
    --122286432(+) TTCTAA/CAGGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for DTX3L (122283085 - 122294050 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DTX3L: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DTX3L
    DNA2.0 Custom Variant and Variant Library Synthesis for DTX3L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DTX3L for disorders           About GeneDecksing

    OMIM gene information: 613143    OMIM disorders: --

    4 diseases for DTX3L:    About MalaCards
    diffuse large b-cell lymphoma    b-cell lymphomas    cervical cancer    cervicitis


    Export disorders for DTX3L 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 DTX3L gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with DTX3L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity. (PubMed id 12670957)1, 2, 3, 9 Takeyama K.... Shipp M.A. (2003)
    2. Fold of the conserved DTC domain in deltex proteins. (PubMed id 22411408)1, 2 Obiero J.... Dhe-Paganon S. (2012)
    3. BBAP monoubiquitylates histone H4 at lysine 91 and selectively modulates the DNA damage response. (PubMed id 19818714)1, 2 Yan Q....Shipp M.A. (2009)
    4. BAL1 and BBAP are regulated by a gamma interferon-responsive bidirectional promoter and are overexpressed in diffuse large B-cell lymphomas with a prominent inflammatory infiltrate. (PubMed id 16809771)1, 2 Juszczynski P....Shipp M.A. (2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Systematic analysis of dimeric E3-RING interactions re veals increased combinatorial complexity in human ubiquitination networks. (PubMed id 22493164)1 Woodsmith J....Sanderson C.M. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. A mega-analysis of genome-wide association studies for major depressive disorder. (PubMed id 22472876)1 (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 151636 HGNC: 30323 AceView: BBAP Ensembl:ENSG00000163840 euGenes: HUgn151636
    ECgene: DTX3L Kegg: 151636 H-InvDB: DTX3L

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for DTX3L Pharmacogenomics, SNPs, Pathways

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