DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] See more...

Aliases for DTX3L Gene

Aliases for DTX3L Gene

  • Deltex E3 Ubiquitin Ligase 3L 2 3 5
  • BBAP 2 3 4
  • RING-Type E3 Ubiquitin Transferase DTX3L 3 4
  • B-Lymphoma- And BAL-Associated Protein 3 4
  • E3 Ubiquitin-Protein Ligase DTX3L 3 4
  • Rhysin-2 3 4
  • Rhysin2 3 4
  • RNF143 2 3
  • Deltex 3 Like, E3 Ubiquitin Ligase 3
  • Deltex 3-Like (Drosophila) 2
  • Protein Deltex-3-Like 4
  • Deltex 3-Like 3
  • EC 2.3.2.27 4
  • Rhysin 2 2
  • DTX3L 5

External Ids for DTX3L Gene

Previous GeneCards Identifiers for DTX3L Gene

  • GC03P123766
  • GC03P122284
  • GC03P119656

Summaries for DTX3L Gene

Entrez Gene Summary for DTX3L Gene

  • DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]

GeneCards Summary for DTX3L Gene

DTX3L (Deltex E3 Ubiquitin Ligase 3L) is a Protein Coding gene. Diseases associated with DTX3L include Primary Autosomal Recessive Microcephaly. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and histone binding. An important paralog of this gene is DTX4.

UniProtKB/Swiss-Prot Summary for DTX3L Gene

  • E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses (PubMed:12670957, PubMed:19818714, PubMed:26479788, PubMed:23230272). Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 (PubMed:28525742). In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1) (PubMed:19818714). 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) (PubMed:19818714). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). By monoubiquitinating histone H2B H2BC9/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication (PubMed:26479788). Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:24790097). In addition, required for the recruitment of HGS and STAM to early endosomes (PubMed:24790097). In association with PARP9, plays a role in antiviral responses by mediating 'Lys-48'-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteosomal-mediated degradation (PubMed:26479788).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DTX3L Gene

Genomics for DTX3L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DTX3L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J122562 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.0 48 3.2 MXD4 IRF2 ZNF217 POLR2A ELF1 ZIC2 ZNF610 THAP11 SIN3A SIN3B DTX3L PARP9 WDR5B-DT PARP14 WDR5B KPNA1
GH03J122678 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.8 +117.0 116960 5.9 TBP ZBTB10 MXD4 IRF2 ZNF217 POLR2A CTCF ELF1 THAP11 SIN3A PARP14 DTX3L PARP9 HSPBAP1 SLC49A4 LINC02035 CSTA KPNA1 HSALNG0028505
GH03J122073 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 -486.9 -486908 7.1 SP1 BCL11A CEBPA NR2C1 SIN3A FOXA2 TRIM22 IRF4 RXRA EBF1 CD86 ILDR1 ENSG00000202388 DTX3L PARP9 FAM162A MIX23 IQCB1 EAF2 CSTA
GH03J122773 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +209.8 209803 1.8 TRIM22 CTCF SMARCA5 FOSL1 SPI1 ZNF24 NR2F1 IKZF1 ATF7 HLF PARP14 HSPBAP1 DTX3L PARP9 SLC49A4 CSTA KPNA1 lnc-SEMA5B-2 piR-49732-420
GH03J122099 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -462.6 -462555 5.2 SP1 BCL11A ZNF217 CTCF REST TRIM22 IRF4 RXRA EBF1 SMC3 CSTA CD86 ILDR1 ENSG00000202388 CASR POLQ PARP9 DTX3L HCLS1 EAF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DTX3L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DTX3L

Top Transcription factor binding sites by QIAGEN in the DTX3L gene promoter:
  • AML1a
  • Bach1
  • C/EBPalpha
  • CP2
  • FOXO1
  • FOXO1a
  • GCNF-1
  • IRF-7A
  • MZF-1
  • Nkx2-5

Genomic Locations for DTX3L Gene

Latest Assembly
chr3:122,564,338-122,575,203
(GRCh38/hg38)
Size:
10,866 bases
Orientation:
Plus strand

Previous Assembly
chr3:122,283,185-122,294,050
(GRCh37/hg19 by Entrez Gene)
Size:
10,866 bases
Orientation:
Plus strand

chr3:122,283,085-122,294,050
(GRCh37/hg19 by Ensembl)
Size:
10,966 bases
Orientation:
Plus strand

Genomic View for DTX3L Gene

Genes around DTX3L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTX3L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DTX3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTX3L Gene

Proteins for DTX3L Gene

  • Protein details for DTX3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDB6-DTX3L_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase DTX3L
    Protein Accession:
    Q8TDB6
    Secondary Accessions:
    • B3KWH6
    • Q53ZZ3
    • Q5MJP7

    Protein attributes for DTX3L Gene

    Size:
    740 amino acids
    Molecular mass:
    83554 Da
    Quaternary structure:
    • Homodimer and heterodimer (PubMed:12670957, PubMed:28525742). Can heterodimerize with DTX1, enhancing its ubiquitin ligase activity in vitro (PubMed:12670957). Interacts (via N-terminus) with ADP ribosyltransferase PARP9/BAL1 (via PARP catalytic domain) forming a stable complex; the interaction is required to activate PARP9 but is dispensable for DTX3L catalytic activity (PubMed:12670957, PubMed:23230272, PubMed:26479788, PubMed:28525742). Forms a complex with STAT1 and PARP9 independently of IFNB1 or IFNG-mediated STAT1 'Tyr-701' phosphorylation (PubMed:26479788). Found in a complex with PARP9, STAT1 and H2BC9 (PubMed:26479788). Found in a complex with E3 ligase ITCH and ESCRT-0 components HGS and STAM (PubMed:24790097). Interacts (via C-terminus) with ITCH; the interaction is increased upon CXCL12 stimulation and inhibits ITCH catalytic activity; the interaction is direct (PubMed:24790097). Interacts with HGS and STAM; the interaction brings together HGS and STAM and promotes their recruitment to early endosomes (PubMed:24790097).
    • (Microbial infection) Interacts with encephalomyocarditis virus (EMCV) C3 protease; the interaction results in C3 protease 'Lys-48'-linked ubiquitination.
    • (Microbial infection) Interacts with human rhinovirus (HRV) C3 protease; the interaction results in C3 protease 'Lys-48'-linked ubiquitination.

    Three dimensional structures from OCA and Proteopedia for DTX3L Gene

    Alternative splice isoforms for DTX3L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DTX3L Gene

Post-translational modifications for DTX3L Gene

  • Autoubiquitinated.
  • Ubiquitination at Lys675, Lys709, Lys198, Lys728, Lys232, Lys259, Lys306, Lys316, Lys337, Lys401, Lys593, and Lys653
  • Modification sites at PhosphoSitePlus

Other Protein References for DTX3L Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for DTX3L

No data available for DME Specific Peptides for DTX3L Gene

Domains & Families for DTX3L Gene

Gene Families for DTX3L Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DTX3L Gene

Suggested Antigen Peptide Sequences for DTX3L Gene

GenScript: Design optimal peptide antigens:
  • Rhysin-2 (DTX3L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDB6

UniProtKB/Swiss-Prot:

DTX3L_HUMAN :
  • Belongs to the Deltex family.
Family:
  • Belongs to the Deltex family.
genes like me logo Genes that share domains with DTX3L: view

Function for DTX3L Gene

Molecular function for DTX3L Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses (PubMed:12670957, PubMed:19818714, PubMed:26479788, PubMed:23230272). Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 (PubMed:28525742). In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1) (PubMed:19818714). 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) (PubMed:19818714). PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites (PubMed:23230272). By monoubiquitinating histone H2B H2BC9/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication (PubMed:26479788). Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:24790097). In addition, required for the recruitment of HGS and STAM to early endosomes (PubMed:24790097). In association with PARP9, plays a role in antiviral responses by mediating 'Lys-48'-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteosomal-mediated degradation (PubMed:26479788).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:12670957, ECO:0000269|PubMed:19818714, ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:26479788, ECO:0000269|PubMed:28525742};.
UniProtKB/Swiss-Prot Induction:
Induced by IFNG (PubMed:16809771, PubMed:26479788). Induced by IFNB1 (PubMed:26479788).
UniProtKB/Swiss-Prot EnzymeRegulation:
Binding to PARP9 enhances DTX3L catalytic activity.

Enzyme Numbers (IUBMB) for DTX3L Gene

Phenotypes From GWAS Catalog for DTX3L Gene

Gene Ontology (GO) - Molecular Function for DTX3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IMP 23230272
GO:0004857 enzyme inhibitor activity IMP 24790097
GO:0005515 protein binding IPI 16809771
GO:0008047 enzyme activator activity IDA 28525742
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DTX3L: view
genes like me logo Genes that share phenotypes with DTX3L: view

miRNA for DTX3L Gene

miRTarBase miRNAs that target DTX3L

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTX3L

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DTX3L Gene

Localization for DTX3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DTX3L Gene

Cytoplasm. Nucleus. Early endosome membrane. Peripheral membrane protein. Cytoplasmic side. Lysosome membrane. Peripheral membrane protein. Cytoplasmic side. Note=Translocates to the nucleus in response to IFNG or IFNB1 stimulation (PubMed:26479788). Localizes at sites of DNA damage in a PARP1-dependent manner (PubMed:23230272). Localization to early endosomes is increased upon CXCL12 stimulation where it co-localizes with ITCH, CXCL4, HGS and STAM (PubMed:24790097). A minor proportion localizes to lysosomes (PubMed:24790097). {ECO:0000269 PubMed:23230272, ECO:0000269 PubMed:24790097, ECO:0000269 PubMed:26479788}.

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 DTX3L gene
Compartment Confidence
nucleus 5
cytosol 5
lysosome 5
endosome 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DTX3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 colocalizes_with nucleus IEA,IDA 26479788
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IEA,IDA 16809771
GO:0005764 lysosome IEA,IDA 24790097
GO:0005765 lysosomal membrane IEA --
genes like me logo Genes that share ontologies with DTX3L: view

Pathways & Interactions for DTX3L Gene

genes like me logo Genes that share pathways with DTX3L: view

Pathways by source for DTX3L Gene

2 Cell Signaling Technology pathways for DTX3L Gene
1 GeneTex pathway for DTX3L Gene

UniProtKB/Swiss-Prot Q8TDB6-DTX3L_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for DTX3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0002230 positive regulation of defense response to virus by host IGI 26479788
GO:0002376 immune system process IEA --
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 23230272
genes like me logo Genes that share ontologies with DTX3L: view

No data available for SIGNOR curated interactions for DTX3L Gene

Drugs & Compounds for DTX3L Gene

No Compound Related Data Available

Transcripts for DTX3L Gene

mRNA/cDNA for DTX3L Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTX3L

Alternative Splicing Database (ASD) splice patterns (SP) for DTX3L Gene

No ASD Table

Relevant External Links for DTX3L Gene

GeneLoc Exon Structure for
DTX3L

Expression for DTX3L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DTX3L Gene

Protein differential expression in normal tissues from HIPED for DTX3L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.8), Lymph node (13.8), and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DTX3L Gene



Protein tissue co-expression partners for DTX3L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DTX3L

SOURCE GeneReport for Unigene cluster for DTX3L Gene:

Hs.518201

Evidence on tissue expression from TISSUES for DTX3L Gene

  • Liver(4.5)
genes like me logo Genes that share expression patterns with DTX3L: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DTX3L Gene

Orthologs for DTX3L Gene

This gene was present in the common ancestor of animals.

Orthologs for DTX3L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DTX3L 30 31
  • 99.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DTX3L 30 31
  • 78.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DTX3L 30 31
  • 77.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dtx3l 30
  • 72.56 (n)
Mouse
(Mus musculus)
Mammalia Dtx3l 30 17 31
  • 70.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DTX3L 31
  • 45 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DTX3L 31
  • 31 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DTX3L 30 31
  • 52.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DTX3L 31
  • 36 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii DTX3L 31
  • 20 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dx 31
  • 17 (a)
OneToMany
Species where no ortholog for DTX3L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DTX3L Gene

ENSEMBL:
Gene Tree for DTX3L (if available)
TreeFam:
Gene Tree for DTX3L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DTX3L: view image

Paralogs for DTX3L Gene

Paralogs for DTX3L Gene

(1) SIMAP similar genes for DTX3L Gene using alignment to 1 proteins:

  • DTX3L_HUMAN
genes like me logo Genes that share paralogs with DTX3L: view

Variants for DTX3L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DTX3L Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs567182339 Likely Benign: not provided 122,571,720(+) G/A
NM_138287.3(DTX3L):c.2196G>A (p.Glu732=)
SYNONYMOUS
rs775806843 Likely Benign: not provided 122,565,905(+) C/T
NM_138287.3(DTX3L):c.234C>T (p.Asp78=)
SYNONYMOUS
rs77786095 Benign: not provided 122,569,465(+) G/T
NM_138287.3(DTX3L):c.1376G>T (p.Gly459Val)
MISSENSE
VAR_036098 A breast cancer sample p.Lys209Asn
rs2332285 - p.Arg425Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DTX3L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DTX3L Gene

Variant ID Type Subtype PubMed ID
esv2672720 CNV deletion 23128226
esv3597613 CNV loss 21293372

Variation tolerance for DTX3L Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DTX3L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DTX3L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTX3L Gene

Disorders for DTX3L Gene

MalaCards: The human disease database

(1) MalaCards diseases for DTX3L Gene - From: COP

Disorder Aliases PubMed IDs
primary autosomal recessive microcephaly
  • mcph
- elite association - COSMIC cancer census association via MalaCards
Search DTX3L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DTX3L

genes like me logo Genes that share disorders with DTX3L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DTX3L Gene

Publications for DTX3L Gene

  1. The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity. (PMID: 12670957) Takeyama K … Shipp MA (The Journal of biological chemistry 2003) 2 3 4 23
  2. Fold of the conserved DTC domain in Deltex proteins. (PMID: 22411408) Obiero J … Dhe-Paganon S (Proteins 2012) 2 3 4
  3. Ubiquitin Modification by the E3 Ligase/ADP-Ribosyltransferase Dtx3L/Parp9. (PMID: 28525742) Yang CS … Paschal BM (Molecular cell 2017) 3 4
  4. PARP9-DTX3L ubiquitin ligase targets host histone H2BJ and viral 3C protease to enhance interferon signaling and control viral infection. (PMID: 26479788) Zhang Y … Holtzman MJ (Nature immunology 2015) 3 4
  5. The ubiquitin ligase deltex-3l regulates endosomal sorting of the G protein-coupled receptor CXCR4. (PMID: 24790097) Holleman J … Marchese A (Molecular biology of the cell 2014) 3 4

Products for DTX3L Gene

Sources for DTX3L Gene