InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATXN10

Summary

InnateDB Protein

IDBP-11674.7

Last Modified

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

Gene Symbol

ATXN10

Protein Name

ataxin 10

Synonyms

E46L; HUMEEP; SCA10;

Species

Homo sapiens

Ensembl Protein

ENSP00000370449

InnateDB Gene

IDBG-11670 (ATXN10)

Protein Structure

UniProt Annotation

Function

Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. {ECO:0000250}.

Subcellular Localization

Cytoplasm, perinuclear region {ECO:0000269PubMed:16498633}.

Disease Associations

Spinocerebellar ataxia 10 (SCA10) [MIM:603516]: 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. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). {ECO:0000269PubMed:11017075}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia.

Tissue Specificity

Expressed in the central nervous system. {ECO:0000269PubMed:15201271}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0007399	nervous system development
GO:0008219	cell death
GO:0031175	neuron projection development

Cellular Component

GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0030425	dendrite
GO:0043025	neuronal cell body
GO:0048471	perinuclear region of cytoplasm