InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Atxn7

Summary

InnateDB Gene

IDBG-132631.6

Last Modified

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

Gene Symbol

Atxn7

Gene Name

ataxin 7

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000021738

Encoded Proteins

IDBP-132633

ataxin 7

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 ENSG00000163635:
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 14:14012491-14107296

Strand

Forward strand

Band

Transcripts

ENSMUST00000022257

ENSMUSP00000022257

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 77 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	77 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0005515	protein binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0006351	transcription, DNA-templated
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:0005730	nucleolus
GO:0005737	cytoplasm
GO:0015630	microtubule cytoskeleton
GO:0016363	nuclear matrix

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000163635

View Gene Order

ENSBTAG00000011287

Not yet available

Pathways

NETPATH

REACTOME

REACT_218274

Chromatin organization pathway

REACT_226917

HATs acetylate histones pathway

REACT_202766

Chromatin modifying enzymes pathway

KEGG

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

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

Q8R4I1

TrEMBL

UniProt Splice Variant

Entrez Gene

246103

UniGene

Mm.133625 Mm.400974 Mm.403666

RefSeq

NM_139227

OMIM

CCDS

CCDS26823

HPRD

IMGT

MGI ID

MGI:2179277

MGI Symbol

Atxn7

EMBL

AC116479 AF455111 AK046679

GenPept

AAL84238 BAC32834

RNA Seq Atlas

246103