UniProt functional annotation for P10826



	UniProt functional annotation for P10826

UniProt code: P10826.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770). The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). {ECO:0000250|UniProtKB:P22605, ECO:0000269|PubMed:12554770, ECO:0000269|PubMed:29021580}.

Subunit: Homodimer (By similarity). Heterodimer; with a RXR molecule (By similarity). Binds DNA preferentially as a RAR/RXR heterodimer (By similarity). Heterodimerizes (via NR LBD) with RXRA (PubMed:29021580). Interacts weakly with NCOR2 (PubMed:12554770). {ECO:0000250|UniProtKB:P28702, ECO:0000269|PubMed:12554770, ECO:0000269|PubMed:29021580}.

Subcellular location: Nucleus {ECO:0000269|PubMed:28167758}. Cytoplasm {ECO:0000269|PubMed:28167758}.

Subcellular location: [Isoform Beta-1]: Nucleus.

Subcellular location: [Isoform Beta-2]: Nucleus.

Subcellular location: [Isoform Beta-4]: Cytoplasm.

Tissue specificity: Expressed in aortic endothelial cells (at protein level). {ECO:0000269|PubMed:28167758}.

Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.

Domain: The DNA-binding nuclear receptor domain and the NR LBD domain are required for binding of the RARB/RXRA heterodimer to both DR1 and DR5 DNA elements. {ECO:0000269|PubMed:1663808}.

Disease: Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]: A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities. {ECO:0000269|PubMed:24075189, ECO:0000269|PubMed:27120018}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily. {ECO:0000305}.

Sequence caution: Sequence=CAA27637.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770). The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). {ECO:0000250\|UniProtKB:P22605, ECO:0000269\|PubMed:12554770, ECO:0000269\|PubMed:29021580}.


Subunit:		Homodimer (By similarity). Heterodimer; with a RXR molecule (By similarity). Binds DNA preferentially as a RAR/RXR heterodimer (By similarity). Heterodimerizes (via NR LBD) with RXRA (PubMed:29021580). Interacts weakly with NCOR2 (PubMed:12554770). {ECO:0000250\|UniProtKB:P28702, ECO:0000269\|PubMed:12554770, ECO:0000269\|PubMed:29021580}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:28167758}. Cytoplasm {ECO:0000269\|PubMed:28167758}.
Subcellular location:		[Isoform Beta-1]: Nucleus.
Subcellular location:		[Isoform Beta-2]: Nucleus.
Subcellular location:		[Isoform Beta-4]: Cytoplasm.
Tissue specificity:		Expressed in aortic endothelial cells (at protein level). {ECO:0000269\|PubMed:28167758}.
Domain:		Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
Domain:		The DNA-binding nuclear receptor domain and the NR LBD domain are required for binding of the RARB/RXRA heterodimer to both DR1 and DR5 DNA elements. {ECO:0000269\|PubMed:1663808}.
Disease:		Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]: A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities. {ECO:0000269\|PubMed:24075189, ECO:0000269\|PubMed:27120018}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the nuclear hormone receptor family. NR1 subfamily. {ECO:0000305}.
Sequence caution:		Sequence=CAA27637.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};