InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: THRB

Summary

InnateDB Protein

IDBP-22336.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

THRB

Protein Name

thyroid hormone receptor, beta

Synonyms

C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2; PRTH; THR1; THRB1; THRB2;

Species

Homo sapiens

Ensembl Protein

ENSP00000280696

InnateDB Gene

IDBG-22332 (THRB)

Protein Structure

UniProt Annotation

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:0000269PubMed:12699376, ECO:0000269PubMed:14673100, ECO:0000269PubMed:16781732, ECO:0000269PubMed:17418816, ECO:0000269PubMed:18237438, ECO:0000269PubMed:18798561, ECO:0000269PubMed:19926848}.

Subcellular Localization

Nucleus.

Disease Associations

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). {ECO:0000269PubMed:10660344, ECO:0000269PubMed:1314846, ECO:0000269PubMed:1324420, ECO:0000269PubMed:1563081, ECO:0000269PubMed:1587388, ECO:0000269PubMed:1619012, ECO:0000269PubMed:1653889, ECO:0000269PubMed:1661299, ECO:0000269PubMed:16804041, ECO:0000269PubMed:1846005, ECO:0000269PubMed:19268523, ECO:0000269PubMed:2153155, ECO:0000269PubMed:2510172, ECO:0000269PubMed:7833659, ECO:0000269PubMed:8175986, ECO:0000269PubMed:8514853, ECO:0000269PubMed:8664910, ECO:0000269PubMed:8889584}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.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:0000269PubMed:7528740, ECO:0000269PubMed:8381821}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	72 [view]
Protein-Protein	71 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003707	steroid hormone receptor activity
GO:0003714	transcription corepressor activity
GO:0004887	thyroid hormone receptor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0019899	enzyme binding
GO:0043565	sequence-specific DNA binding
GO:0070324	thyroid hormone binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0010467	gene expression
GO:0030522	intracellular receptor signaling pathway
GO:0043401	steroid hormone mediated signaling pathway
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR001728 Thyroid hormone receptor
IPR008946 Nuclear hormone receptor, ligand-binding

PFAM

PF00104
PF00105

PRINTS

PR00047
PR00398
PR00546

PIRSF

SMART

SM00430
SM00399

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt