InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Atxn3

Summary

InnateDB Gene

IDBG-165322.6

Last Modified

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

Gene Symbol

Atxn3

Gene Name

ataxin 3

Synonyms

2210008M02Rik; AI463012; AI647473; ataxin-3; ATX3; Mjd; MJD1; Sca3

Species

Mus musculus

Ensembl Gene

ENSMUSG00000021189

Encoded Proteins

IDBP-165324

ataxin 3

IDBP-541208

ataxin 3

IDBP-536692

ataxin 3

IDBP-538504

ataxin 3

IDBP-533970

ataxin 3

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 ENSG00000066427:
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:101918901-101958246

Strand

Reverse strand

Band

Transcripts

ENSMUST00000021606	ENSMUSP00000021606
ENSMUST00000160186	ENSMUSP00000124178
ENSMUST00000160251	ENSMUSP00000125082
ENSMUST00000161011	ENSMUSP00000125378
ENSMUST00000159883	ENSMUSP00000124419

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 60 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	60 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001012	RNA polymerase II regulatory region DNA binding
GO:0004221	ubiquitin thiolesterase activity
GO:0004407	histone deacetylase activity
GO:0004843	ubiquitin-specific protease activity
GO:0005515	protein binding
GO:0008242	omega peptidase activity
GO:0031625	ubiquitin protein ligase binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006511	ubiquitin-dependent protein catabolic process
GO:0006515	misfolded or incompletely synthesized protein catabolic process
GO:0010810	regulation of cell-substrate adhesion
GO:0034605	cellular response to heat
GO:0035520	monoubiquitinated protein deubiquitination
GO:0035640	exploration behavior
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0070932	histone H3 deacetylation
GO:0071218	cellular response to misfolded protein

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005759	mitochondrial matrix
GO:0031966	mitochondrial membrane
GO:0042405	nuclear inclusion body

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000066427

View Gene Order

ENSBTAG00000005786

Not yet available

Pathways

NETPATH

REACTOME

KEGG

mmu04141

Protein processing in endoplasmic reticulum pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

hsa04141

Protein processing in endoplasmic reticulum pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.271914 Mm.409349 Mm.485508

RefSeq

NM_001167914 NM_029705 XM_006515406 XM_006515407 XM_006515408 XM_006515409 XM_006515410

OMIM

CCDS

CCDS26115 CCDS49144

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas