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P10828 of Proteins NR C4-type domain repeats

Uniprot ID:P10828	Protein name: Thyroid hormone receptor beta	Gene : THRB ERBA2 NR1A2 THR1
Protein Family:"Nuclear hormone receptor family, NR1 subfamily"	Squence Length : 461

Sequnce	>P10828 462 MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
NR C4-type domains repeats	ZN_FING 107 127 NR C4-type ZN_FING 145 169 NR C4-type
Domin repeated regions	107 - 127 CVVCGDKATGYHYRCITCEGC 145 - 169 CKYEGKCVIDKVTRNQCQECRFKKC
Function	"Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine"
Binding Site	BINDING 282 282 Thyroid hormone. BINDING 320 320 Thyroid hormone. BINDING 331 331 Thyroid hormone. via amide nitrogen. BINDING 435 435 Thyroid hormone
Mutation	207 208 SI->AA: Modestly inhibits homodimer formation on a minimal response element (in vitro) 207 208 SI->KK: Inhibits homodimer formation on a minimal response element (in vitro) 243 243 R->Q: Impairs hormone binding and ligand-dependent conformational changes 331 331 N->S: No effect on thyroid hormone binding 355 355 D->R: Stabilizes homodimer
Disease	"DISEASE: Generalized thyroid hormone resistance (GTHR) [MIM:188570]: A disease characterized by 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 GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH) Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Generalized thyroid hormone resistance autosomal recessive (GTHRAR) [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 Note=The disease is caused by mutations 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 Note=The disease is caused by mutations affecting the gene represented in this entry"