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ATXN1L (Ataxin 1 Like) is a Protein Coding gene. Diseases associated with ATXN1L include Spinocerebellar Ataxia 1 and Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Spinocerebellar ataxia and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is ATXN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 21475249 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0030425 | dendrite | IEA | -- |
GO:0042995 | cell projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Spinocerebellar ataxia |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
GO:0007420 | brain development | IEA | -- |
GO:0007612 | learning | IEA,ISS | -- |
GO:0007613 | memory | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATXN1L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATXN1L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atxn1l 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atxn1l 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ATXN1L 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN1L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATXN1L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATXN1L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn1l 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atxn1l 30 |
|
||
ATXN1L 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Atx-1 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | K04F10.1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs7194407 | - | p.Ser313Pro |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 1 |
|
|
autosomal dominant cerebellar ataxia |
|
|