Predicted to enable DNA polymerase binding activity. Involved in nucleotide-excision repair and regulation of DNA-templated DNA replication. Located in nucleus. Expressed in germ line. Used to study Fanconi anemia. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group D2; breast cancer; and skin melanoma. Is an ortholog of human FANCD2 (FA complementation group D2).
Involved in IRE1-mediated unfolded protein response. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of oligosaccharyltransferase complex. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Ir. Is an ortholog of human DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit).
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).
ASSOCIATED WITH 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; congenital disorder of glycosylation Ir; hyperprolinemia type 2; INTERACTS WITH (+)-catechin; 2,2',5,5'-tetrachlorobiphenyl; 5-aza-2'-deoxycytidine
Ionotropic receptor 25a (Ir25a) encodes a member of the Ionotropic Receptor (IR) family of variant ionotropic glutamate receptors. It functions as co-receptor subunit in chemosensation and thermosensation.
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]
Ionotropic receptor 92a (Ir92a) encodes a member of the Ionotropic Receptor (IR) family of variant ionotropic glutamate receptors. It functions in detection of ammonia and amines to mediate attraction behavior.
Ionotropic receptor 84a (Ir84a) encodes a member of the Ionotropic Receptor (IR) family of variant ionotropic glutamate receptors. It functions in detection of phenylacetic acid and controls male courtship behavior.
Ionotropic receptor 64a (Ir64a) encodes a member of the Ionotropic Receptor (IR) family of variant ionotropic glutamate receptors. It is part of a broad-specificity acid sensor that mediates avoidance behavior.
Ionotropic receptor 76b (Ir76b) encodes a member of the Ionotropic Receptor (IR) family of variant ionotropic glutamate receptors. It functions in chemosensory detection of various amines and salt, as a probable co-receptor subunit.