Bos taurus Gene: ATXN7
Summary
InnateDB Gene IDBG-645138.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATXN7
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000011287
Encoded Proteins
ataxin 7
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 22:37587794-37675105
Strand Reverse strand
Band
Transcripts
ENSBTAT00000014996 ENSBTAP00000014996
ENSBTAT00000063177 ENSBTAP00000055641
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 69 interaction(s) predicted by orthology.
Predicted by orthology
Total 69 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0005515 protein binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
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
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
SSD Ortholog
Ortholog supports species divergence
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
HATs acetylate histones pathway
Chromatin organization pathway
Chromatin modifying enzymes pathway
Chromatin organization pathway
HATs acetylate histones pathway
Chromatin modifying enzymes pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq XM_002696986
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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