THRA
entrez
7067
canonical
uniprot
P10827
canonical
ensembl
ENSG00000126351
resolver
ensp
ENSP00000264637
resolver
ensp
ENSP00000377679
resolver
ensp
ENSP00000395641
resolver
ensp
ENSP00000463466
resolver
ensp
ENSP00000530661
resolver
genesymbol
THRA
resolver
genesymbol_syn
EAR7
resolver
genesymbol_syn
ERBA1
resolver
genesymbol_syn
NR1A1
resolver
genesymbol_syn
THRA1
resolver
genesymbol_syn
THRA2
resolver
hgnc
HGNC:11796
resolver
uniprot
A8K3B5
resolver
uniprot
P21205
resolver
uniprot
Q6FH41
resolver
uniprot
Q8N6A1
resolver
uniprot
Q96H73
resolver
uniprot_entry
Q6FH41_HUMAN
resolver
uniprot_entry
THA_HUMAN
resolver
uniprot_sec
A8K3B5
resolver
uniprot_sec
P21205
resolver
uniprot_sec
Q8N6A1
resolver
uniprot_sec
Q96H73
resolver
amino_acid_sequence
MEQKPSKVECGSDPEENSARSPDGKRKRKNGQCSLKTSMSGYIPSYLDKDEQCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPTYSCKYDSCCVIDKITRNQCQLCRFKKCIAVGMAMDLVLDDSKRVAKRKLIEQNRERRRKEEMIRSLQQRPEPTPEEWDLIHIATEAHRSTNAQGSHWKQRRKFLPDDIGQSPIVSMPDGDKVDLEAFSEFTKIITPAITRVVDFAKKLPMFSELPCEDQIILLKGCCMEIMSLRAAVRYDPESDTLTLSGEMAVKREQLKNGGLGVVSDAIFELGKSLSAFNLDDTEVALLQAVLLMSTDRSGLLCVDKIEKSQEAYLLAFEHYVNHRKHNIPHFWPKLLMKEREVQSSILYKGAAAEGRPGGSLGVHPEGQQLLGMHVVQGPQVRQLEQQLGEAGSLQGPVLQHQSPKSPQQRLLELLHRSGILHARAVCGEDDSSEADSPSSSEEEPEVCEDLAGNAASP
uniprot
proteins
disease_involvement
DISEASE: Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]: A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance. {ECO:0000269|PubMed:22168587, ECO:0000269|PubMed:24969835, ECO:0000269|PubMed:25670821, ECO:0000269|PubMed:26037512}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform Alpha-1]: 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:18237438, ECO:0000269|PubMed:19926848}.; FUNCTION: [Isoform Alpha-2]: Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action. {ECO:0000269|PubMed:8910441}.
uniprot
proteins
mass_dalton
54816
uniprot
proteins
mutagenesis
MUTAGEN 277; /note="S->N: No effect on thyroid hormone binding."; /evidence="ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:19926848
uniprot
proteins
protein_family
NR1 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10567404
uniprot
proteins
pubmed
12699376
uniprot
proteins
pubmed
14673100
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16781732
uniprot
proteins
pubmed
18030323
uniprot
proteins
pubmed
18237438
uniprot
proteins
pubmed
1850510
uniprot
proteins
pubmed
19926848
uniprot
proteins
pubmed
20078863
uniprot
proteins
pubmed
22168587
uniprot
proteins
pubmed
2464749
uniprot
proteins
pubmed
24969835
uniprot
proteins
pubmed
2539258
uniprot
proteins
pubmed
25670821
uniprot
proteins
pubmed
26037512
uniprot
proteins
pubmed
3357890
uniprot
proteins
pubmed
3672126
uniprot
proteins
pubmed
3684612
uniprot
proteins
pubmed
8910441
uniprot
proteins
pubmed
9267036
uniprot
proteins
pubmed
9627117
uniprot
proteins
sequence_length
490
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.; SUBCELLULAR LOCATION: [Isoform Alpha-2]: Cytoplasm {ECO:0000250|UniProtKB:P63058}. Nucleus {ECO:0000250|UniProtKB:P63058}. Note=When overexpressed found in the cytoplasm where it colocalizes with TACC1. {ECO:0000250|UniProtKB:P63058}.
uniprot
proteins