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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
External Ids for DTX3L Gene
- HGNC: 30323
- NCBI Entrez Gene: 151636
- Ensembl: ENSG00000163840
- OMIM®: 613143
- UniProtKB/Swiss-Prot: Q8TDB6
Previous GeneCards Identifiers for DTX3L Gene
- GC03P123766
- GC03P122284
- GC03P119656
Summaries 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).
Additional gene information for DTX3L Gene
- HGNC (30323)
- NCBI Entrez Gene (151636)
- Ensembl (ENSG00000163840)
- OMIM® (613143)
- UniProtKB/Swiss-Prot (Q8TDB6)
- Open Targets Platform(ENSG00000163840)
- Search for DTX3L at DataMed
- Search for DTX3L at HumanCyc
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
- 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:
-
- 3q21.1 by HGNC
- 3q21.1 by Entrez Gene
- 3q21.1 by Ensembl
DTX3L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- NX_Q8TDB6 (NX_Q8TDB6-1)
- Modification sites at PhosphoSitePlus
Other Protein References for DTX3L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for DTX3L
- Novus Biologicals Antibodies for DTX3L
-
Abcam antibodies for DTX3L
- Invitrogen Antibodies for DTX3L (AFLGC-DTX3L)
-
Biorbyt antibodies for DTX3L
-
Custom Antibody ServicesProSci Antibodies for DTX3L
-
Santa Cruz Biotechnology (SCBT) Antibodies for DTX3L
Protein products for research
-
OriGene Purified Proteins for DTX3L
- Search Origene for MassSpec and Protein Over-expression Lysates for DTX3L
- Origene Custom Protein Services for DTX3L
-
Abcam proteins for DTX3L
Assay products for research
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
- InterPro:
- Blocks:
-
- Zn-finger, RING
- ProtoNet:
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- Family:
-
- Belongs to the Deltex family.
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
| 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 | -- |
Phenotypes for DTX3L Gene
- GenomeRNAi human phenotypes for DTX3L:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Reduced mammosphere formation
- Increased shRNA abundance (Z-score > 2)
- Increased viability (proliferation)
- Increased cell death HMECs cells
- Increased viability with MLN4924 (a NAE inhibitor)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased ionizing radiation sensitivity
- Decreased Hepatitis C virus replication
- Decreased shRNA abundance (Z-score < -2)
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DTX3L - Starting at $85 >
- * DTX3L CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DTX3L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DTX3L
-
Santa Cruz Biotechnology (SCBT) CRISPR for DTX3L
miRNA for DTX3L Gene
- miRTarBase miRNAs that target DTX3L
-
- hsa-miR-21-5p (MIRT030687)
- hsa-miR-6516-5p (MIRT460010)
- hsa-miR-455-3p (MIRT460011)
- hsa-miR-6807-5p (MIRT460012)
- hsa-miR-7847-3p (MIRT460013)
- hsa-miR-6851-5p (MIRT460014)
- hsa-miR-3689d (MIRT460015)
- hsa-miR-6499-3p (MIRT460016)
- hsa-miR-6086 (MIRT460017)
- hsa-miR-377-5p (MIRT460018)
- hsa-miR-4795-5p (MIRT460019)
- hsa-miR-1247-3p (MIRT460020)
- hsa-miR-129-5p (MIRT497788)
- hsa-miR-510-3p (MIRT497789)
- hsa-miR-488-3p (MIRT497790)
- hsa-miR-5009-3p (MIRT497791)
- hsa-miR-1277-5p (MIRT497792)
- mmu-miR-3087-3p (MIRT587387)
- mmu-miR-3470b (MIRT587388)
- hsa-miR-7703 (MIRT635661)
- hsa-miR-4252 (MIRT635662)
- hsa-miR-4793-3p (MIRT635663)
- hsa-miR-766-3p (MIRT635664)
- hsa-miR-4738-5p (MIRT635665)
- hsa-miR-1273g-3p (MIRT635666)
- hsa-miR-607 (MIRT658854)
- hsa-miR-520h (MIRT658855)
- hsa-miR-520g-3p (MIRT658856)
- hsa-miR-3973 (MIRT658857)
- hsa-miR-3606-3p (MIRT658858)
- hsa-miR-6507-3p (MIRT658859)
- hsa-miR-4282 (MIRT658860)
- hsa-miR-665 (MIRT681648)
- hsa-miR-6771-5p (MIRT681649)
- hsa-miR-3622b-5p (MIRT681650)
- hsa-miR-202-3p (MIRT681651)
- hsa-miR-98-5p (MIRT681652)
- hsa-miR-4500 (MIRT681653)
- hsa-miR-4458 (MIRT681654)
- hsa-let-7i-5p (MIRT681655)
- hsa-let-7g-5p (MIRT681656)
- hsa-let-7f-5p (MIRT681657)
- hsa-let-7e-5p (MIRT681658)
- hsa-let-7d-5p (MIRT681659)
- hsa-let-7c-5p (MIRT681660)
- hsa-let-7b-5p (MIRT681661)
- hsa-let-7a-5p (MIRT681662)
- hsa-miR-6884-5p (MIRT681663)
- hsa-miR-485-5p (MIRT681664)
- hsa-miR-7162-3p (MIRT681665)
- hsa-miR-6746-5p (MIRT681666)
- hsa-miR-6888-5p (MIRT681667)
- hsa-miR-5197-5p (MIRT681668)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DTX3L
- Browse OriGene Inhibitory RNA Products For DTX3L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTX3L
Clone products for research
- Applied Biological Materials (abm): Clones for DTX3L - Starting at $45 >
- * DTX3L as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DTX3L
- Addgene plasmids for DTX3L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DTX3L
Cell Lines for research
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| lysosome | 5 |
| endosome | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for DTX3L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Notch Signaling Pathway (WikiPathways) | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | DNA Damage | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for DTX3L Gene
1 BioSystems pathway for DTX3L Gene
4 Reactome pathways for DTX3L Gene
1 KEGG pathway 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.
Interacting Proteins for DTX3L Gene
Selected Interacting proteins:
Q8TDB6-DTX3L_HUMAN
ENSP00000296161
for DTX3L Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DTX3L
| 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 |
No data available for SIGNOR curated interactions for DTX3L Gene
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 :
-
- ENST00000296161 5768 nts (view in UCSC)
- ENST00000383661 687 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DTX3L - Starting at $85 >
- * DTX3L CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DTX3L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DTX3L
-
Santa Cruz Biotechnology (SCBT) CRISPR for DTX3L
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DTX3L
- Browse OriGene Inhibitory RNA Products For DTX3L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTX3L
Clone products for research
- Applied Biological Materials (abm): Clones for DTX3L - Starting at $45 >
- * DTX3L as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DTX3L
- Addgene plasmids for DTX3L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DTX3L
Relevant External Links for DTX3L Gene
- GeneLoc Exon Structure for
- DTX3L
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DTX3L
SOURCE GeneReport for Unigene cluster for DTX3L Gene:
Hs.518201Evidence on tissue expression from TISSUES for DTX3L Gene
- Liver(4.5)
Primer products for research
-
OriGene qPCR primer pairs for DTX3L
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DTX3L 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DTX3L 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DTX3L 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dtx3l 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Dtx3l 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DTX3L 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DTX3L 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DTX3L 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DTX3L 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | DTX3L 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | dx 31 |
|
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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2672720 | CNV | deletion | 23128226 |
| esv3597613 | CNV | loss | 21293372 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| primary autosomal recessive microcephaly |
|
|
Search DTX3L in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DTX3L
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for DTX3L Gene
Publications for DTX3L Gene
- 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
- Fold of the conserved DTC domain in Deltex proteins. (PMID: 22411408) Obiero J … Dhe-Paganon S (Proteins 2012) 2 3 4
- Ubiquitin Modification by the E3 Ligase/ADP-Ribosyltransferase Dtx3L/Parp9. (PMID: 28525742) Yang CS … Paschal BM (Molecular cell 2017) 3 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
- 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
ExternalLinks
Products for DTX3L Gene
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Sources for DTX3L Gene
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