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]

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).

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).

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.

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.

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.

Atxn10

Homo sapiens

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993 [PubMed 8421960]) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brain stem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes. ADCA I is caused by mutations in at least 3 different genes: SCA1 (MIM 164400), which encodes ataxin-1 (ATX1; MIM 601556) and maps to 6p23; SCA2 (MIM 183090), which encodes ataxin-2 (ATX2; MIM 601517) and maps to 12q24; and SCA3, or Machado-Joseph disease (MIM 109150), which maps to 14q (MJD; MIM 607047). ADCA II is caused by mutations in SCA7 (MIM 607640). The mutations in all of these disorders involve a trinucleotide repeat expansion in the coding region of the gene. ADCA III, a predominantly cerebellar phenotype, was found in a large pedigree with linkage to chromosome 11 (SCA5; MIM 600224) and has also been found to be caused by CAG expansions in the CACNA1A gene (MIM 601011) on chromosome 19 (SCA6; MIM 183086).[supplied by OMIM]