InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATXN7

Summary

InnateDB Protein

IDBP-42989.6

Last Modified

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

Gene Symbol

ATXN7

Protein Name

ataxin 7

Synonyms

ADCAII; OPCA3; SCA7;

Species

Homo sapiens

Ensembl Protein

ENSP00000295900

InnateDB Gene

IDBG-42987 (ATXN7)

Protein Structure

UniProt Annotation

Function

Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization. {ECO:0000269PubMed:22100762}.

Subcellular Localization

Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.Isoform b: Cytoplasm.

Disease Associations

Spinocerebellar ataxia 7 (SCA7) [MIM:164500]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. {ECO:0000269PubMed:9288099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine.

Comments

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: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