InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ATXN1

Summary

InnateDB Gene

IDBG-63112.5

Last Modified

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

Gene Symbol

ATXN1

Gene Name

ataxin 1

Synonyms

ATX1; D6S504E; SCA1

Species

Homo sapiens

Ensembl Gene

ENSG00000124788

Encoded Proteins

IDBP-63114

ataxin 1

IDBP-362844

ataxin 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 6:16299112-16761491

Strand

Reverse strand

Band

p22.3

Transcripts

ENST00000244769	ENSP00000244769
ENST00000436367	ENSP00000416360
ENST00000483591
ENST00000473388
ENST00000495178
ENST00000483954
ENST00000467008
ENST00000498374
ENST00000492857
ENST00000479680

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 309 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	309 [view]
Protein-Protein	309 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [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:0006396	RNA processing
GO:0008219	cell death
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

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000046876

View Gene Order

ENSBTAG00000019675

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.434961 Hs.608641 Hs.609470 Hs.712773 Hs.712843 Hs.713053 Hs.733997 Hs.737424

RefSeq

NM_000332 NM_001128164

HUGO

OMIM

CCDS

CCDS34342

HPRD

03333

IMGT

EMBL

GenPept

RNA Seq Atlas