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This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]
ATXN3L (Ataxin 3 Like) is a Protein Coding gene. Diseases associated with ATXN3L include Machado-Joseph Disease and Simpson-Golabi-Behmel Syndrome, Type 2. Among its related pathways are Spinocerebellar ataxia and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and obsolete ubiquitin thiolesterase activity. An important paralog of this gene is ATXN3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IEA,IDA | 21118805 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008234 | cysteine-type peptidase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0036459 | thiol-dependent ubiquitinyl hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Protein processing in endoplasmic reticulum | ||
3 | Spinocerebellar ataxia | ||
4 | Deubiquitination |
.74
|
|
5 | Josephin domain DUBs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0016579 | protein deubiquitination | IEA,TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATXN3L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Atxn3 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | ATXN3 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ATXN3 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | ATXN3 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | atx-3 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs16999010 | - | p.Leu266Phe | |||
rs4830842 | - | p.Gly332Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3576773 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
machado-joseph disease |
|
|
simpson-golabi-behmel syndrome, type 2 |
|
|
ring dermoid of cornea |
|
|
autosomal dominant cerebellar ataxia |
|
|