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UBE2U (Ubiquitin Conjugating Enzyme E2 U) is a Protein Coding gene. Diseases associated with UBE2U include Brachydactyly, Type E2 and Riddle Syndrome. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is UBE2A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 19549727 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0061631 | ubiquitin conjugating enzyme activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IBA | -- |
GO:0033503 | HULC complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Ubiquitin mediated proteolysis | ||
3 | Remodeling of Adherens Junctions |
Remodeling of Adherens Junctions
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|
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4 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
-
|
|
5 | Innate Immune System |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IBA | 21873635 |
GO:0006281 | DNA repair | IBA | 21873635 |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0016574 | histone ubiquitination | IBA | 21873635 |
GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
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This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | UBE2U 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | UBE2U 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | UBE2U 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ube2u 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ube2u 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | UBE2U 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | UBE2U 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | UBE2U 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ube2u 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:55512 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD6 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs7532933 | - |
p.Ile90Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1385597 | CNV | deletion | 17803354 |
esv2749096 | CNV | deletion | 23290073 |
esv2749107 | CNV | deletion | 23290073 |
esv2749118 | CNV | deletion | 23290073 |
esv2758938 | CNV | loss | 17122850 |
nsv477076 | CNV | novel sequence insertion | 20440878 |
nsv546436 | CNV | gain | 21841781 |
nsv546437 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brachydactyly, type e2 |
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riddle syndrome |
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hypertropia |
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