Swiss-Prot entry
ID THB2_HUMAN STANDARD; PRT; 476 AA.
AC P37243;
DT 01-OCT-1994 (Rel. 30, Created)
DT 01-OCT-1994 (Rel. 30, Last sequence update)
DT 01-MAY-2005 (Rel. 47, Last annotation update)
DE Thyroid hormone receptor beta-2.
GN Name=THRB; Synonyms=ERBA2, NR1A2, THR1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE OF 1-122.
RC TISSUE=Pituitary;
RA Damm K., Berning B.;
RL Submitted (AUG-1993) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE OF 109-476.
RC TISSUE=Placenta;
RX MEDLINE=87090375; PubMed=2879243 [NCBI, ExPASy, EBI, Israel, Japan];
RA Weinberger C., Thompson C.C., Ong E.S., Lebo R., Gruol D.J.,
RA Evans R.M.;
RT "The c-erb-A gene encodes a thyroid hormone receptor.";
RL Nature 324:641-646(1986).
CC -!- FUNCTION: High affinity receptor for triiodothyronine.
CC -!- SUBCELLULAR LOCATION: Nuclear.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=Beta2;
CC IsoId=P37243-1; Sequence=Displayed;
CC Name=Beta1;
CC IsoId=P10828-1; Sequence=External;
CC -!- DOMAIN: Composed of three domains: a modulating N-terminal domain,
CC a DNA-binding domain and a C-terminal steroid-binding domain.
CC -!- DISEASE: Defects in THRB are the cause of generalized thyroid
CC hormone resistance (GTHR) [MIM:188570, 274300]. GTHR is
CC transmitted as an autosomal dominant trait, but an autosomal
CC recessive form also exists. The disease is characterized by
CC goiter, abnormal mental functions, increased susceptibility to
CC infections, abnormal growth and bone maturation, tachycardia and
CC deafness. Affected individuals may also have attention deficit-
CC hyperactivity disorders (ADHD) and language difficulties. GTHR
CC patients also have high levels of circulating thyroid hormones
CC (T3-T4), with normal or slightly elevated thyroid stimulating
CC hormone (TSH).
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR1
CC subfamily.
CC -!- SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
CC --------------------------------------------------------------------------
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use as long as its content is in no way modified and this statement is not
CC removed.
CC --------------------------------------------------------------------------
DR EMBL; X74497; CAA52606.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; X04707; -; NOT_ANNOTATED_CDS. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR PIR; S40152; S40152.
DR HSSP; P10828; 1NUO. [HSSP ENTRY / SWISS-3DIMAGE / PDB]
DR SMR; P37243; 119-207, 226-475.
DR TRANSFAC; T00838; -.
DR TRANSFAC; T00851; -.
DR TRANSFAC; T04450; -.
DR Ensembl; ENSG00000151090; Homo_sapiens
DR Genew; HGNC:11799; THRB.
DR CleanEx; HGNC:11799; THRB.
DR MIM; 190160; -. [NCBI / EBI]
DR GeneCards; THRB.
DR GeneLynx; THRB.
DR GenAtlas; THRB.
DR SOURCE; THRB.
DR MIM; 188570; -. [NCBI / EBI]
DR MIM; 274300; -. [NCBI / EBI]
DR GO; GO:0005634; C:nucleus; TAS.
DR GO; GO:0004887; F:thyroid hormone receptor activity; TAS.
DR GO; GO:0003714; F:transcription corepressor activity; TAS.
DR GO; GO:0003700; F:transcription factor activity; NAS.
DR GO; GO:0006351; P:transcription, DNA-dependent; TAS.
DR InterPro; IPR000536; Hrmon_recept_lig.
DR InterPro; IPR001723; Stdhrmn_receptor.
DR InterPro; IPR008946; Str_ncl_receptor.
DR InterPro; IPR001728; ThyrH_receptor.
DR InterPro; IPR001628; Znf_C4steroid.
DR InterPro; Graphical view of domain structure.
DR Pfam; PF00104; Hormone_recep; 1.
DR Pfam; PF00105; zf-C4; 1.
DR Pfam; Graphical view of domain structure.
DR PRINTS; PR00398; STRDHORMONER.
DR PRINTS; PR00047; STROIDFINGER.
DR PRINTS; PR00546; THYROIDHORMR.
DR ProDom; PD000035; Znf_C4steroid; 1.
DR ProDom [Domain structure / List of seq. sharing at least 1 domain ]
DR SMART; SM00430; HOLI; 1.
DR SMART; SM00399; ZnF_C4; 1.
DR PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
DR CMR; P37243.
DR HOVERGEN [Family / Alignment / Tree]
DR BLOCKS; P37243.
DR ProtoNet; P37243.
DR ProtoMap; P37243.
DR PRESAGE; P37243.
DR DIP; P37243.
DR ModBase; P37243.
DR SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW Alternative splicing; DNA-binding; Multigene family; Nuclear protein;
KW Receptor; Transcription; Transcription regulation; Zinc-finger.
FT DOMAIN 1 121 Modulating.
FT DNA_BIND 122 196 Nuclear receptor-type.
FT ZN_FING 122 142 C4-type.
FT ZN_FING 160 184 C4-type.
FT DOMAIN 259 476 Ligand-binding.
SQ SEQUENCE 476 AA; 54356 MW; 52096D71064475F9 CRC64;
MNYCMQEIYE VHPAAGSNCY MQSTDYYAYF EDSPGYSGCD AQAVPSNNIY MEQAWAVNQP
YTCSYPGNMF KSKDSDLDMA LNQYSQPEYF TEEKPTFSQV QSPSYSQKKG YIPSYLDKDE
LCVVCGDKAT GYHYRCITCE GCKGFFRRTI QKNLHPSYSC KYEGKCVIDK VTRNQCQECR
FKKCIYVGMA TDLVLDDSKR LAKRKLIEEN REKRRREELQ KSIGHKPEPT DEEWELIKTV
TEAHVATNAQ GSHWKQKPKF LPEDIGQAPI VNAPEGGKVD LEAFSHFTKI ITPAITRVVD
FAKKLPMFCE LPCEDQIILL KGCCMEIMSL RAAVRYDPES ETLTLNGEMA VTRGQLKNGG
LGVVSDAIFD LGMSLSSFNL DDTEVALLQA VLLMSSDRPG LACVERIEKY QDSFLLAFEH
YINYRKHHVT HFWPKLLMKV TDLRMIGACH ASRFLHMKVE CPTELLPPLF LEVFED
//