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DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
DTX3L (Deltex E3 Ubiquitin Ligase 3L) is a Protein Coding gene. Diseases associated with DTX3L include Arteriovenous Malformations Of The Brain and Primary Autosomal Recessive Microcephaly. Among its related pathways are Chromatin Regulation / Acetylation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and histone binding. An important paralog of this gene is DTX2.
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 | -- |
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 | -- |
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 |
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|
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 |
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 |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
749820 | Likely Benign: not provided | 122,571,720(+) | G/A | SYNONYMOUS_VARIANT | |
760327 | Likely Benign: not provided | 122,565,905(+) | C/T | SYNONYMOUS_VARIANT | |
782692 | Benign: not provided | 122,569,465(+) | G/T | MISSENSE_VARIANT | |
VAR_036098 | A breast cancer sample | p.Lys209Asn | |||
rs2332285 | - | p.Arg425Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2672720 | CNV | deletion | 23128226 |
esv3597613 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arteriovenous malformations of the brain |
|
|
primary autosomal recessive microcephaly |
|
|