MGP Database

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MGP003111

UniProt Annotations

Entry Information
Gene Namenuclear receptor subfamily 2, group F, member 1
Protein EntryCOT1_HUMAN
UniProt IDP10589
SpeciesHuman
Comments
Comment typeDescription
DiseaseBosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]: An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. {ECO:0000269|PubMed:24462372}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCoup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG. {ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:11682620}.
InductionInhibited by gonadotropin in granulosa cells. {ECO:0000269|PubMed:11682620}.
SimilarityBelongs to the nuclear hormone receptor family. NR2 subfamily. {ECO:0000305}.
SimilarityContains 1 nuclear receptor DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00407}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitBinds DNA as dimer; homodimer and probable heterodimer with NR2F6. Interacts with COPS2. {ECO:0000269|PubMed:10207062, ECO:0000269|PubMed:11682620}.
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