atx-3

Caenorhabditis elegans

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).

Atxn3

Homo sapiens

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]

ATXN3L

Homo sapiens

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]

gfat-1

Caenorhabditis elegans

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).

bec-1

Caenorhabditis elegans

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).

Atxn3

Rattus norvegicus

Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; histone deacetylase binding activity; and transcription corepressor binding activity. Contributes to histone deacetylase activity. Involved in protein modification process. Predicted to be located in several cellular components, including endoplasmic reticulum membrane; mitochondrion; and nucleus. Predicted to be active in lysosomal membrane and nucleus. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Orthologous to human ATXN3 (ataxin 3); PARTICIPATES IN mitochondrial autophagy pathway; Endoplasmic Reticulum-associated degradation pathway; INTERACTS WITH 17beta-estradiol; 4,4'-diaminodiphenylmethane; acetamide.

Becn1

Rattus norvegicus

Enables ubiquitin protein ligase binding activity. Involved in several processes, including intracellular signaling cassette; regulation of apoptotic process; and regulation of organelle organization. Located in dendrite and trans-Golgi network. Used to study brain ischemia and middle cerebral artery infarction. Biomarker of several diseases, including Barrett's esophagus; acute necrotizing pancreatitis; artery disease (multiple); brain disease (multiple); and neuropathy (multiple). Human ortholog(s) of this gene implicated in Machado-Joseph disease and breast cancer. Orthologous to human BECN1 (beclin 1); PARTICIPATES IN autophagy pathway; inositol metabolic pathway; mitochondrial autophagy pathway; INTERACTS WITH (+)-pilocarpine; (+)-taxifolin; (-)-anisomycin.

Slc18a2

Rattus norvegicus

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.