InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATCAY

Summary

InnateDB Protein

IDBP-364718.4

Last Modified

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

Gene Symbol

ATCAY

Protein Name

ataxia, cerebellar, Cayman type

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000390941

InnateDB Gene

IDBG-18006 (ATCAY)

Protein Structure

UniProt Annotation

Function

Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites. {ECO:0000269PubMed:16899818}.

Subcellular Localization

Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cytoplasm {ECO:0000269PubMed:16899818}. Mitochondrion envelope {ECO:0000269PubMed:16899818}. Note=Localizes presynaptically into neuron projections.

Disease Associations

Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]: Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. {ECO:0000269PubMed:14556008}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019894	kinesin binding

Biological Process

GO:0006810	transport
GO:0006915	apoptotic process
GO:0031175	neuron projection development
GO:0032880	regulation of protein localization
GO:0048311	mitochondrion distribution
GO:2000212	negative regulation of glutamate metabolic process

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0030054	cell junction
GO:0030424	axon
GO:0030425	dendrite
GO:0031966	mitochondrial membrane
GO:0043005	neuron projection
GO:0045202	synapse