UniProt functional annotation for P10589

UniProt code: P10589.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Coup (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}.
 
Subunit: Binds DNA as dimer; homodimer and probable heterodimer with NR2F6 (PubMed:11682620). Interacts with GTF2B; this interaction is direct (PubMed:1517211). Interacts with COPS2 (PubMed:10207062). {ECO:0000269|PubMed:10207062, ECO:0000269|PubMed:11682620, ECO:0000269|PubMed:1517211}.
Subcellular location: Nucleus {ECO:0000305}.
Induction: Inhibited by gonadotropin in granulosa cells. {ECO:0000269|PubMed:11682620}.
Disease: Bosch-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 variants affecting the gene represented in this entry.
Similarity: Belongs to the nuclear hormone receptor family. NR2 subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.