ATXN7

GENE INFORMATION

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Gene name

ATXN7 (HGNC Symbol)

Synonyms

ADCAII, OPCA3, SCA7

Description

Ataxin 7 (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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

Chromosome

3

Cytoband

p14.1

Chromosome location (bp)

63864557 - 64003462

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163635 (version 78.38)

Entrez gene

6314

UniProt

O15265 (UniProt - Evidence at protein level)

neXtProt

NX_O15265

Antibodypedia

ATXN7 antibodies
 

PROTEIN VIEW

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ATXN7-001
 
ATXN7-002
 
ATXN7-004
 
ATXN7-006
 
ATXN7-013
 
ATXN7-201
 
 
 
 
 

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)

ATXN7-001 ENSP00000295900
ENST00000295900
O15265
Show all »
Show » Show » 892 95.5 No 0
ATXN7-002 ENSP00000418203
ENST00000474513
Q9UPD8
Show all »
Show » 26 2.5 No 0
ATXN7-004 ENSP00000420234
ENST00000487717
O15265
Show all »
Show » Show » 892 95.5 No 0
ATXN7-006 ENSP00000428277
ENST00000484332
O15265
Show all »
Show » Show » 747 79.5 No 0
ATXN7-013 ENSP00000428067
ENST00000522345
H0YAT6
Show all »
Show » 115 12.2 No 0
ATXN7-201 ENSP00000439585
ENST00000538065
O15265
Show all »
Show » Show » 945 101.1 No 0