ATXN1

GENE INFORMATION

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Gene name

ATXN1 (HGNC Symbol)

Synonyms

ATX1, D6S504E, SCA1

Description

Ataxin 1 (HGNC Symbol)

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]

Chromosome

6

Cytoband

p22.3

Chromosome location (bp)

16299112 - 16761491

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124788 (version 78.38)

Entrez gene

6310

UniProt

P54253 (UniProt - Evidence at protein level)

neXtProt

NX_P54253

Antibodypedia

ATXN1 antibodies
 

PROTEIN VIEW

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ATXN1-001
 
ATXN1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATXN1-001 ENSP00000244769
ENST00000244769
P54253
Show all »
Show » Show » 815 86.9 No 0
ATXN1-201 ENSP00000416360
ENST00000436367
P54253
Show all »
Show » Show » 815 86.9 No 0