UniProt functional annotation for P10828



	UniProt functional annotation for P10828

UniProt code: P10828.

Organism: Homo sapiens (Human).

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

Function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. {ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:16781732, ECO:0000269|PubMed:17418816, ECO:0000269|PubMed:18237438, ECO:0000269|PubMed:18798561, ECO:0000269|PubMed:19926848}.

Subunit: Binds DNA as a dimer; homodimer and heterodimer with RXRA. Interacts with the coactivators NCOA1/SRC1, NCOA2/GRIP1, NCOA7 and MED1/TRAP220 in a ligand-inducible manner. Interacts with the corepressor NCOR1 in absence of ligand. Interacts with C1D (By similarity). Interacts with NR2F6; the interaction impairs the binding of the THRB homodimer and THRB:RXRB heterodimer to T3 response elements. Interacts with PRMT2 and THRSP. Interacts with TACC1; this interaction is decreased in the presence of thyroid hormone T3 (PubMed:20078863). {ECO:0000250, ECO:0000269|PubMed:10713182, ECO:0000269|PubMed:11971969, ECO:0000269|PubMed:12039952, ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:15466465, ECO:0000269|PubMed:16781732, ECO:0000269|PubMed:17418816, ECO:0000269|PubMed:18237438, ECO:0000269|PubMed:18798561, ECO:0000269|PubMed:20078863, ECO:0000269|PubMed:7746322}.

Subcellular location: Nucleus.

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

Disease: Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570]: An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). {ECO:0000269|PubMed:10660344, ECO:0000269|PubMed:12511610, ECO:0000269|PubMed:12554782, ECO:0000269|PubMed:1314846, ECO:0000269|PubMed:1324420, ECO:0000269|PubMed:1563081, ECO:0000269|PubMed:1587388, ECO:0000269|PubMed:1619012, ECO:0000269|PubMed:1661299, ECO:0000269|PubMed:16804041, ECO:0000269|PubMed:1846005, ECO:0000269|PubMed:19268523, ECO:0000269|PubMed:2153155, ECO:0000269|PubMed:2510172, ECO:0000269|PubMed:7833659, ECO:0000269|PubMed:8175986, ECO:0000269|PubMed:8514853, ECO:0000269|PubMed:8664910, ECO:0000269|PubMed:8889584}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Thyroid hormone resistance, generalized, autosomal recessive (GRTHR) [MIM:274300]: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. {ECO:0000269|PubMed:1653889}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. {ECO:0000269|PubMed:7528740, ECO:0000269|PubMed:8381821}. 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=AAA35677.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA28412.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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:		Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. {ECO:0000269\|PubMed:12699376, ECO:0000269\|PubMed:14673100, ECO:0000269\|PubMed:16781732, ECO:0000269\|PubMed:17418816, ECO:0000269\|PubMed:18237438, ECO:0000269\|PubMed:18798561, ECO:0000269\|PubMed:19926848}.


Subunit:		Binds DNA as a dimer; homodimer and heterodimer with RXRA. Interacts with the coactivators NCOA1/SRC1, NCOA2/GRIP1, NCOA7 and MED1/TRAP220 in a ligand-inducible manner. Interacts with the corepressor NCOR1 in absence of ligand. Interacts with C1D (By similarity). Interacts with NR2F6; the interaction impairs the binding of the THRB homodimer and THRB:RXRB heterodimer to T3 response elements. Interacts with PRMT2 and THRSP. Interacts with TACC1; this interaction is decreased in the presence of thyroid hormone T3 (PubMed:20078863). {ECO:0000250, ECO:0000269\|PubMed:10713182, ECO:0000269\|PubMed:11971969, ECO:0000269\|PubMed:12039952, ECO:0000269\|PubMed:12699376, ECO:0000269\|PubMed:14673100, ECO:0000269\|PubMed:15466465, ECO:0000269\|PubMed:16781732, ECO:0000269\|PubMed:17418816, ECO:0000269\|PubMed:18237438, ECO:0000269\|PubMed:18798561, ECO:0000269\|PubMed:20078863, ECO:0000269\|PubMed:7746322}.
Subcellular location:		Nucleus.
Domain:		Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
Disease:		Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570]: An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). {ECO:0000269\|PubMed:10660344, ECO:0000269\|PubMed:12511610, ECO:0000269\|PubMed:12554782, ECO:0000269\|PubMed:1314846, ECO:0000269\|PubMed:1324420, ECO:0000269\|PubMed:1563081, ECO:0000269\|PubMed:1587388, ECO:0000269\|PubMed:1619012, ECO:0000269\|PubMed:1661299, ECO:0000269\|PubMed:16804041, ECO:0000269\|PubMed:1846005, ECO:0000269\|PubMed:19268523, ECO:0000269\|PubMed:2153155, ECO:0000269\|PubMed:2510172, ECO:0000269\|PubMed:7833659, ECO:0000269\|PubMed:8175986, ECO:0000269\|PubMed:8514853, ECO:0000269\|PubMed:8664910, ECO:0000269\|PubMed:8889584}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Thyroid hormone resistance, generalized, autosomal recessive (GRTHR) [MIM:274300]: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. {ECO:0000269\|PubMed:1653889}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. {ECO:0000269\|PubMed:7528740, ECO:0000269\|PubMed:8381821}. 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=AAA35677.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA28412.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};