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
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 A1
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Chromatin organization pathway
HATs acetylate histones pathway
Chromatin modifying enzymes pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
HATs acetylate histones pathway
Chromatin organization pathway
Chromatin modifying enzymes pathway
KEGG
INOH
PID BIOCARTA
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