InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ATXN7

Summary

InnateDB Gene

IDBG-42987.6

Last Modified

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

Gene Symbol

ATXN7

Gene Name

ataxin 7

Synonyms

ADCAII; OPCA3; SCA7

Species

Homo sapiens

Ensembl Gene

ENSG00000163635

Encoded Proteins

IDBP-42989

ataxin 7

IDBP-475860

ataxin 7

IDBP-476772

ataxin 7

IDBP-473564

ataxin 7

IDBP-482934

ataxin 7

IDBP-602462

ataxin 7

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. 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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:63864557-64003462

Strand

Forward strand

Band

p14.1

Transcripts

ENST00000295900	ENSP00000295900
ENST00000474513	ENSP00000418203
ENST00000474112
ENST00000487717	ENSP00000420234
ENST00000484332	ENSP00000428277
ENST00000475897
ENST00000488239
ENST00000466529
ENST00000472569
ENST00000484668
ENST00000477516
ENST00000522345	ENSP00000428067
ENST00000538065	ENSP00000439585

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 95 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	95 [view]
Protein-Protein	95 [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:0003682	chromatin binding
GO:0005515	protein binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0006325	chromatin organization
GO:0006351	transcription, DNA-templated
GO:0006997	nucleus organization
GO:0007601	visual perception
GO:0008219	cell death
GO:0016578	histone deubiquitination
GO:0042326	negative regulation of phosphorylation
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway
GO:0045944	positive regulation of transcription from RNA polymerase II promoter

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0015630	microtubule cytoskeleton
GO:0016363	nuclear matrix

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000021738

View Gene Order

ENSBTAG00000011287

Not yet available

Pathways

NETPATH

REACTOME

REACT_172610

HATs acetylate histones pathway

REACT_172623

Chromatin organization pathway

REACT_172633

Chromatin modifying enzymes pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.595189 Hs.743420

RefSeq

NM_000333 NM_001128149 NM_001177387

HUGO

OMIM

CCDS

CCDS43102 CCDS46861 CCDS54603

HPRD

06365

IMGT

EMBL

GenPept

RNA Seq Atlas