InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Atxn1

Summary

InnateDB Gene

IDBG-148225.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Atxn1

Gene Name

ataxin 1

Synonyms

2900016G23Rik; Atx1; C85907; ENSMUSG00000074917; Gm10786; Sca1

Species

Mus musculus

Ensembl Gene

ENSMUSG00000046876

Encoded Proteins

IDBP-148227

ataxin 1

IDBP-620389

ataxin 1

IDBP-712637

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000124788:
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure\' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 13:45549758-45964991

Strand

Reverse strand

Band

Transcripts

ENSMUST00000091628	ENSMUSP00000089217
ENSMUST00000167708	ENSMUSP00000129890
ENSMUST00000180110	ENSMUSP00000137439

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 234 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	234 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0008266	poly(U) RNA binding
GO:0034046	poly(G) binding
GO:0042802	identical protein binding
GO:0043621	protein self-association

Biological Process

GO:0006351	transcription, DNA-templated
GO:0008344	adult locomotory behavior
GO:0008542	visual learning
GO:0042326	negative regulation of phosphorylation
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051168	nuclear export
GO:0060079	regulation of excitatory postsynaptic membrane potential

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0016363	nuclear matrix
GO:0042272	nuclear RNA export factor complex
GO:0042405	nuclear inclusion body
GO:0043231	intracellular membrane-bounded organelle

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000124788

View Gene Order

ENSBTAG00000019675

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.342683 Mm.342686 Mm.405240 Mm.408003 Mm.416905 Mm.483908 Mm.486641 Mm.486883

RefSeq

NM_001199304 NM_001199305 NM_009124 XM_006516881

OMIM

CCDS

CCDS26483 CCDS56877

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas