Enables cysteine-type deubiquitinase activity. Involved in chemical synaptic transmission. Located in cytoplasm and nucleus. Expressed in coelomocyte; head; somatic nervous system; and tail neurons. Used to study Machado-Joseph disease. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Is an ortholog of human ATXN3 (ataxin 3) and ATXN3L (ataxin 3 like).
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 12-44 to 52-86 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, Jul 2016]
This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]
Predicted to enable mRNA binding activity. Located in nucleus. Expressed widely. Is an ortholog of human HNRNPR (heterogeneous nuclear ribonucleoprotein R) and SYNCRIP (synaptotagmin binding cytoplasmic RNA interacting protein).
Is affected by clk-1 and sir-2.1 based on microarray studies. Is predicted to encode a protein with the following domains: 7TM GPCR, serpentine receptor class r (Str) and Serpentine type 7TM GPCR chemoreceptor Str.
Predicted to enable phosphatidylinositol 3-kinase binding activity and protein-macromolecule adaptor activity. Involved in several processes, including determination of adult lifespan; gamete generation; and nematode male tail tip morphogenesis. Located in cytoplasmic vesicle and nucleus. Expressed in several structures, including intestine; nervous system; pharynx; tail; and vulva. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; Barrett's esophagus; Machado-Joseph disease; and adenocarcinoma (multiple). Is an ortholog of human BECN1 (beclin 1).
NAD-dependent (R,R)-butanediol dehydrogenase; catalyzes oxidation of (R,R)-2,3-butanediol to (3R)-acetoin, oxidation of meso-butanediol to (3S)-acetoin, and reduction of acetoin; enhances use of 2,3-butanediol as an aerobic carbon source
Enables several functions, including amine transmembrane transporter activity; heat shock protein binding activity; and monoamine:proton antiporter activity. Involved in several processes, including aminergic neurotransmitter loading into synaptic vesicle; neurotransmitter uptake; and signal release. Located in several cellular components, including neuronal cell body; secretory vesicle; and terminal bouton. Is active in dopaminergic synapse; postsynapse; and secretory vesicle. Used to study Parkinson's disease and type 1 diabetes mellitus. Biomarker of Machado-Joseph disease; Parkinson's disease; substance-related disorder; and toxic encephalopathy. Human ortholog(s) of this gene implicated in Parkinson's disease and infantile parkinsonism-dystonia 2. Orthologous to human SLC18A2 (solute carrier family 18 member A2); PARTICIPATES IN dopamine biosynthetic pathway; epinephrine biosynthetic pathway; norepinephrine biosynthetic pathway; INTERACTS WITH (R)-noradrenaline; 17alpha-ethynylestradiol; 2,2',4,4'-Tetrabromodiphenyl ether.
Predicted to enable glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Involved in IRE1-mediated unfolded protein response. Expressed in tail. Used to study Machado-Joseph disease. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 12; obesity; and type 2 diabetes mellitus. Is an ortholog of human GFPT1 (glutamine--fructose-6-phosphate transaminase 1).