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MT001441

UniProt Annotations

Entry Information

Gene Name	ataxia, cerebellar, Cayman type
Protein Entry	ATCAY_HUMAN
UniProt ID	Q86WG3
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86WG3-1; Sequence=Displayed; Name=2; IsoId=Q86WG3-3; Sequence=VSP_008748; Note=No experimental confirmation available.;
Disease	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:0000269\|PubMed:14556008}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The CRAL-TRIO domain is known to bind small hydrophobic molecules. {ECO:0000250}.
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:0000269\|PubMed:16899818}.
Interaction	Q9UNE7:STUB1; NbExp=4; IntAct=EBI-1783328, EBI-357085;
Ptm	Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2. {ECO:0000269\|PubMed:21369758}.
Ptm	May be ubiquitinated by STUB1. {ECO:0000269\|PubMed:16275660}.
Sequence Caution	Sequence=BAB47501.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03859.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
Similarity	Contains 1 CRAL-TRIO domain. {ECO:0000255\|PROSITE- ProRule:PRU00056}.
Subcellular Location	Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cytoplasm {ECO:0000269\|PubMed:16899818}. Mitochondrion envelope {ECO:0000269\|PubMed:16899818}. Note=Localizes presynaptically into neuron projections.
Subunit	Interacts with KLC1; may link mitochondria to KLC1 and regulate mitochondria localization into neuron projections (By similarity). Interacts with GLS; the interaction is direct and may control GLS localization, negatively regulating its activity. Interacts with PIN1 (via WW domain); upon NGF stimulation. The interaction with PIN1 and GLS is competitive. May interact with MAP2K2. {ECO:0000250, ECO:0000269\|PubMed:16899818, ECO:0000269\|PubMed:18628984, ECO:0000269\|PubMed:21369758}.