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Protein

Thyroid hormone receptor beta

Gene

THRB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.7 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei282 – 2821Thyroid hormone
Binding sitei320 – 3201Thyroid hormone
Binding sitei331 – 3311Thyroid hormone; via amide nitrogen
Binding sitei435 – 4351Thyroid hormone

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi107 – 18175Nuclear receptorPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri107 – 12721NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri145 – 16925NR C4-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • chromatin DNA binding Source: Ensembl
  • DNA binding Source: ProtInc
  • enzyme binding Source: UniProtKB
  • sequence-specific DNA binding Source: InterPro
  • steroid hormone receptor activity Source: InterPro
  • thyroid hormone binding Source: UniProtKB
  • thyroid hormone receptor activity Source: UniProtKB
  • transcription corepressor activity Source: ProtInc
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc
  • zinc ion binding Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiP10828.
SIGNORiP10828.

Names & Taxonomyi

Protein namesi
Recommended name:
Thyroid hormone receptor beta
Alternative name(s):
Nuclear receptor subfamily 1 group A member 2
c-erbA-2
c-erbA-beta
Gene namesi
Name:THRB
Synonyms:ERBA2, NR1A2, THR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:11799. THRB.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • nuclear chromatin Source: Ensembl
  • nucleoplasm Source: Reactome
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Generalized thyroid hormone resistance (GTHR)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:188570
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti234 – 2341A → T in GTHR; impairs hormone binding and ligand-dependent conformational changes. 2 Publications
Corresponds to variant rs121918694 [ dbSNP | Ensembl ].
VAR_004632
Natural varianti243 – 2431R → W in GTHR. 1 Publication
Corresponds to variant rs121918707 [ dbSNP | Ensembl ].
VAR_004633
Natural varianti268 – 2681A → G in GTHR. 1 Publication
VAR_059041
Natural varianti317 – 3171A → T in GTHR; impairs hormone binding. 4 Publications
Corresponds to variant rs121918690 [ dbSNP | Ensembl ].
VAR_004635
Natural varianti320 – 3201R → C in GTHR. 1 Publication
Corresponds to variant rs121918696 [ dbSNP | Ensembl ].
VAR_004636
Natural varianti320 – 3201R → H in GTHR. 2 Publications
Corresponds to variant rs121918693 [ dbSNP | Ensembl ].
VAR_004637
Natural varianti331 – 3311N → D in GTHR. 1 Publication
VAR_059042
Natural varianti332 – 3321G → R in GTHR. 1 Publication
Corresponds to variant rs28999969 [ dbSNP | Ensembl ].
VAR_004638
Natural varianti335 – 3351A → P in GTHR. 1 Publication
VAR_059043
Natural varianti337 – 3371Missing in GTHRAR. 1 Publication
VAR_004639
Natural varianti338 – 3381R → W in GTHR. 3 Publications
Corresponds to variant rs121918697 [ dbSNP | Ensembl ].
VAR_004640
Natural varianti340 – 3401Q → H in GTHR. 1 Publication
Corresponds to variant rs121918688 [ dbSNP | Ensembl ].
VAR_004641
Natural varianti341 – 3411L → P in GTHR. 1 Publication
VAR_059044
Natural varianti342 – 3421K → I in GTHR. 1 Publication
VAR_004642
Natural varianti345 – 3451G → R in GTHR. 1 Publication
Corresponds to variant rs121918686 [ dbSNP | Ensembl ].
VAR_004645
Natural varianti345 – 3451G → S in GTHR. 1 Publication
Corresponds to variant rs121918686 [ dbSNP | Ensembl ].
VAR_004644
Natural varianti345 – 3451G → V in GTHR. 1 Publication
Corresponds to variant rs28999970 [ dbSNP | Ensembl ].
VAR_004643
Natural varianti346 – 3461L → F in GTHR. 1 Publication
VAR_059045
Natural varianti347 – 3471G → E in GTHR. 1 Publication
Corresponds to variant rs28999971 [ dbSNP | Ensembl ].
VAR_004646
Natural varianti348 – 3481V → E in GTHR. 1 Publication
VAR_004647
Natural varianti426 – 4261T → I in GTHR. 1 Publication
VAR_004648
Natural varianti431 – 4311I → M in GTHR. 1 Publication
VAR_059046
Natural varianti438 – 4381R → H in GTHR. 1 Publication
Corresponds to variant rs121918698 [ dbSNP | Ensembl ].
VAR_004649
Natural varianti442 – 4421M → V in GTHR. 1 Publication
Corresponds to variant rs121918691 [ dbSNP | Ensembl ].
VAR_004650
Natural varianti443 – 4431K → E in GTHR. 1 Publication
Corresponds to variant rs121918692 [ dbSNP | Ensembl ].
VAR_004651
Natural varianti446 – 4461C → R in GTHR. 1 Publication
Corresponds to variant rs121918703 [ dbSNP | Ensembl ].
VAR_004652
Natural varianti447 – 4471P → T in GTHR. 1 Publication
VAR_059047
Natural varianti453 – 4531P → H in GTHR. 1 Publication
Corresponds to variant rs121918687 [ dbSNP | Ensembl ].
VAR_004653
Natural varianti453 – 4531P → L in GTHR. 1 Publication
VAR_059048
Natural varianti453 – 4531P → S in GTHR. 1 Publication
VAR_004654
Natural varianti453 – 4531P → T in GTHR. 4 Publications
Corresponds to variant rs28933408 [ dbSNP | Ensembl ].
VAR_004655
Natural varianti459 – 4591F → C in GTHR. 1 Publication
Corresponds to variant rs121918702 [ dbSNP | Ensembl ].
VAR_059049
Generalized thyroid hormone resistance autosomal recessive (GTHRAR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:274300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti337 – 3371Missing in GTHRAR. 1 Publication
VAR_004639
Selective pituitary thyroid hormone resistance (PRTH)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionVariant 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.
See also OMIM:145650
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti316 – 3161R → H in PRTH; impairs hormone binding. 2 Publications
Corresponds to variant rs121918695 [ dbSNP | Ensembl ].
VAR_004634
Natural varianti429 – 4291R → Q in PRTH. 1 Publication
VAR_058508

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi207 – 2082SI → AA: Modestly inhibits homodimer formation on a minimal response element (in vitro). 1 Publication
Mutagenesisi207 – 2082SI → KK: Inhibits homodimer formation on a minimal response element (in vitro). 1 Publication
Mutagenesisi243 – 2431R → Q: Impairs hormone binding and ligand-dependent conformational changes. 1 Publication
Mutagenesisi331 – 3311N → S: No effect on thyroid hormone binding. 2 Publications
Mutagenesisi355 – 3551D → R: Stabilizes homodimer. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MalaCardsiTHRB.
MIMi145650. phenotype.
188570. phenotype.
274300. phenotype.
Orphaneti3221. Generalized resistance to thyroid hormone.
97927. Peripheral resistance to thyroid hormones.
165994. Selective pituitary resistance to thyroid hormone.
PharmGKBiPA36508.

Chemistry

ChEMBLiCHEMBL2111462.
DrugBankiDB00509. Dextrothyroxine.
DB00451. Levothyroxine.
DB00279. Liothyronine.
DB01583. Liotrix.
GuidetoPHARMACOLOGYi589.

Polymorphism and mutation databases

BioMutaiTHRB.
DMDMi586092.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 461461Thyroid hormone receptor betaPRO_0000053446Add
BLAST

Proteomic databases

MaxQBiP10828.
PaxDbiP10828.
PeptideAtlasiP10828.
PRIDEiP10828.

PTM databases

iPTMnetiP10828.
PhosphoSiteiP10828.

Expressioni

Gene expression databases

BgeeiENSG00000151090.
CleanExiHS_THRB.
ExpressionAtlasiP10828. baseline and differential.
GenevisibleiP10828. HS.

Organism-specific databases

HPAiCAB002008.
CAB002009.
HPA061035.

Interactioni

Subunit structurei

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.By similarity11 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112924. 55 interactions.
DIPiDIP-5991N.
IntActiP10828. 10 interactions.
MINTiMINT-1508903.
STRINGi9606.ENSP00000348827.

Chemistry

BindingDBiP10828.

Structurei

Secondary structure

1
461
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni108 – 1103Combined sources
Beta strandi116 – 1183Combined sources
Helixi125 – 13612Combined sources
Helixi140 – 1423Combined sources
Turni155 – 1595Combined sources
Helixi162 – 17110Combined sources
Helixi176 – 1783Combined sources
Helixi182 – 19514Combined sources
Helixi198 – 2047Combined sources
Helixi205 – 2084Combined sources
Helixi216 – 23015Combined sources
Turni234 – 2374Combined sources
Helixi239 – 2424Combined sources
Turni248 – 2514Combined sources
Beta strandi260 – 2634Combined sources
Helixi266 – 2738Combined sources
Helixi276 – 28813Combined sources
Helixi293 – 2953Combined sources
Helixi298 – 31922Combined sources
Turni323 – 3264Combined sources
Beta strandi327 – 3304Combined sources
Turni331 – 3333Combined sources
Beta strandi334 – 3363Combined sources
Helixi338 – 3436Combined sources
Turni344 – 3485Combined sources
Helixi349 – 36012Combined sources
Helixi361 – 3633Combined sources
Helixi367 – 37812Combined sources
Helixi389 – 41022Combined sources
Beta strandi413 – 4164Combined sources
Helixi417 – 44529Combined sources
Helixi448 – 4503Combined sources
Helixi453 – 4597Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1BSXX-ray3.70A/B202-461[»]
1N46X-ray2.20A/B204-461[»]
1NAXX-ray2.70A209-460[»]
1NQ0X-ray2.40A202-461[»]
1NQ1X-ray2.90A202-461[»]
1NQ2X-ray2.40A202-461[»]
1NUOX-ray3.10A202-461[»]
1Q4XX-ray2.80A209-461[»]
1R6GX-ray3.00A203-461[»]
1XZXX-ray2.50X202-461[»]
1Y0XX-ray3.10X202-461[»]
2J4AX-ray2.20A209-461[»]
2NLLX-ray1.90B104-204[»]
2PINX-ray2.30A/B209-461[»]
3D57X-ray2.20A/B209-460[»]
3GWSX-ray2.20X202-460[»]
3IMYX-ray2.55A202-461[»]
3JZCX-ray2.50A202-461[»]
4ZO1X-ray3.22X210-461[»]
ProteinModelPortaliP10828.
SMRiP10828. Positions 94-460.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10828.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 106106ModulatingAdd
BLAST
Regioni244 – 461218Interaction with NR2F6Add
BLAST
Regioni244 – 461218Ligand-bindingAdd
BLAST

Domaini

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

Sequence similaritiesi

Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri107 – 12721NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri145 – 16925NR C4-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575. Eukaryota.
ENOG410XRZC. LUCA.
GeneTreeiENSGT00840000129681.
HOGENOMiHOG000010313.
HOVERGENiHBG005606.
InParanoidiP10828.
KOiK08362.
OMAiWELIKIV.
OrthoDBiEOG091G0GC1.
PhylomeDBiP10828.
TreeFamiTF328382.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR001728. ThyrH_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
PR00546. THYROIDHORMR.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Beta-1 (identifier: P10828-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTPNSMTENG LTAWDKPKHC PDREHDWKLV GMSEACLHRK SHSERRSTLK
60 70 80 90 100
NEQSSPHLIQ TTWTSSIFHL DHDDVNDQSV SSAQTFQTEE KKCKGYIPSY
110 120 130 140 150
LDKDELCVVC GDKATGYHYR CITCEGCKGF FRRTIQKNLH PSYSCKYEGK
160 170 180 190 200
CVIDKVTRNQ CQECRFKKCI YVGMATDLVL DDSKRLAKRK LIEENREKRR
210 220 230 240 250
REELQKSIGH KPEPTDEEWE LIKTVTEAHV ATNAQGSHWK QKRKFLPEDI
260 270 280 290 300
GQAPIVNAPE GGKVDLEAFS HFTKIITPAI TRVVDFAKKL PMFCELPCED
310 320 330 340 350
QIILLKGCCM EIMSLRAAVR YDPESETLTL NGEMAVTRGQ LKNGGLGVVS
360 370 380 390 400
DAIFDLGMSL SSFNLDDTEV ALLQAVLLMS SDRPGLACVE RIEKYQDSFL
410 420 430 440 450
LAFEHYINYR KHHVTHFWPK LLMKVTDLRM IGACHASRFL HMKVECPTEL
460
FPPLFLEVFE D
Length:461
Mass (Da):52,788
Last modified:October 1, 1994 - v2
Checksum:i6770BB0D372A7CAA
GO
Isoform Beta-2 (identifier: P10828-2) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-93: MTPNSMTENG...QTFQTEEKKC → MNYCMQEIYE...QVQSPSYSQK

Show »
Length:476
Mass (Da):54,449
Checksum:i21755292507335D8
GO

Sequence cautioni

The sequence AAA35677 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA28412 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti243 – 2431R → P in AAA35677 (PubMed:3034496).Curated
Sequence conflicti243 – 2431R → P in CAA28412 (PubMed:2879243).Curated
Sequence conflicti451 – 4511F → L in AAA35677 (PubMed:3034496).Curated
Sequence conflicti451 – 4511F → L in CAA28412 (PubMed:2879243).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161D → G.
Corresponds to variant rs9865746 [ dbSNP | Ensembl ].
VAR_050577
Natural varianti234 – 2341A → T in GTHR; impairs hormone binding and ligand-dependent conformational changes. 2 Publications
Corresponds to variant rs121918694 [ dbSNP | Ensembl ].
VAR_004632
Natural varianti243 – 2431R → W in GTHR. 1 Publication
Corresponds to variant rs121918707 [ dbSNP | Ensembl ].
VAR_004633
Natural varianti268 – 2681A → G in GTHR. 1 Publication
VAR_059041
Natural varianti316 – 3161R → H in PRTH; impairs hormone binding. 2 Publications
Corresponds to variant rs121918695 [ dbSNP | Ensembl ].
VAR_004634
Natural varianti317 – 3171A → T in GTHR; impairs hormone binding. 4 Publications
Corresponds to variant rs121918690 [ dbSNP | Ensembl ].
VAR_004635
Natural varianti320 – 3201R → C in GTHR. 1 Publication
Corresponds to variant rs121918696 [ dbSNP | Ensembl ].
VAR_004636
Natural varianti320 – 3201R → H in GTHR. 2 Publications
Corresponds to variant rs121918693 [ dbSNP | Ensembl ].
VAR_004637
Natural varianti331 – 3311N → D in GTHR. 1 Publication
VAR_059042
Natural varianti332 – 3321G → R in GTHR. 1 Publication
Corresponds to variant rs28999969 [ dbSNP | Ensembl ].
VAR_004638
Natural varianti335 – 3351A → P in GTHR. 1 Publication
VAR_059043
Natural varianti337 – 3371T → I.2 Publications
Corresponds to variant rs1054624 [ dbSNP | Ensembl ].
VAR_011784
Natural varianti337 – 3371Missing in GTHRAR. 1 Publication
VAR_004639
Natural varianti338 – 3381R → W in GTHR. 3 Publications
Corresponds to variant rs121918697 [ dbSNP | Ensembl ].
VAR_004640
Natural varianti340 – 3401Q → H in GTHR. 1 Publication
Corresponds to variant rs121918688 [ dbSNP | Ensembl ].
VAR_004641
Natural varianti341 – 3411L → P in GTHR. 1 Publication
VAR_059044
Natural varianti342 – 3421K → I in GTHR. 1 Publication
VAR_004642
Natural varianti345 – 3451G → R in GTHR. 1 Publication
Corresponds to variant rs121918686 [ dbSNP | Ensembl ].
VAR_004645
Natural varianti345 – 3451G → S in GTHR. 1 Publication
Corresponds to variant rs121918686 [ dbSNP | Ensembl ].
VAR_004644
Natural varianti345 – 3451G → V in GTHR. 1 Publication
Corresponds to variant rs28999970 [ dbSNP | Ensembl ].
VAR_004643
Natural varianti346 – 3461L → F in GTHR. 1 Publication
VAR_059045
Natural varianti347 – 3471G → E in GTHR. 1 Publication
Corresponds to variant rs28999971 [ dbSNP | Ensembl ].
VAR_004646
Natural varianti348 – 3481V → E in GTHR. 1 Publication
VAR_004647
Natural varianti426 – 4261T → I in GTHR. 1 Publication
VAR_004648
Natural varianti429 – 4291R → Q in PRTH. 1 Publication
VAR_058508
Natural varianti431 – 4311I → M in GTHR. 1 Publication
VAR_059046
Natural varianti438 – 4381R → H in GTHR. 1 Publication
Corresponds to variant rs121918698 [ dbSNP | Ensembl ].
VAR_004649
Natural varianti442 – 4421M → V in GTHR. 1 Publication
Corresponds to variant rs121918691 [ dbSNP | Ensembl ].
VAR_004650
Natural varianti443 – 4431K → E in GTHR. 1 Publication
Corresponds to variant rs121918692 [ dbSNP | Ensembl ].
VAR_004651
Natural varianti446 – 4461C → R in GTHR. 1 Publication
Corresponds to variant rs121918703 [ dbSNP | Ensembl ].
VAR_004652
Natural varianti447 – 4471P → T in GTHR. 1 Publication
VAR_059047
Natural varianti453 – 4531P → H in GTHR. 1 Publication
Corresponds to variant rs121918687 [ dbSNP | Ensembl ].
VAR_004653
Natural varianti453 – 4531P → L in GTHR. 1 Publication
VAR_059048
Natural varianti453 – 4531P → S in GTHR. 1 Publication
VAR_004654
Natural varianti453 – 4531P → T in GTHR. 4 Publications
Corresponds to variant rs28933408 [ dbSNP | Ensembl ].
VAR_004655
Natural varianti459 – 4591F → C in GTHR. 1 Publication
Corresponds to variant rs121918702 [ dbSNP | Ensembl ].
VAR_059049

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9393MTPNS…EEKKC → MNYCMQEIYEVHPAAGSNCY MQSTDYYAYFEDSPGYSGCD AQAVPSNNIYMEQAWAVNQP YTCSYPGNMFKSKDSDLDMA LNQYSQPEYFTEEKPTFSQV QSPSYSQK in isoform Beta-2. 1 PublicationVSP_031077Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M26747 mRNA. Translation: AAA35677.1. Different initiation.
X04707 mRNA. Translation: CAA28412.1. Different initiation.
AK096628 mRNA. Translation: BAG53341.1.
AC012087 Genomic DNA. No translation available.
AC093927 Genomic DNA. No translation available.
AC098971 Genomic DNA. No translation available.
AC099054 Genomic DNA. No translation available.
AC112217 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64345.1.
BC106929 mRNA. Translation: AAI06930.1.
BC106930 mRNA. Translation: AAI06931.1.
AY286465 mRNA. Translation: AAQ23704.1.
AY286466 mRNA. Translation: AAQ23705.1.
AY286467 mRNA. Translation: AAQ23706.1.
AY286468 mRNA. Translation: AAQ23707.1.
AY286469 mRNA. Translation: AAQ23708.1.
AY286470 mRNA. Translation: AAQ23709.1.
AY286471 mRNA. Translation: AAQ23710.1.
X74497 mRNA. Translation: CAA52606.1.
CCDSiCCDS2641.1. [P10828-1]
PIRiA25237. TVHUAR.
S40152.
RefSeqiNP_000452.2. NM_000461.4. [P10828-1]
NP_001121648.1. NM_001128176.2. [P10828-1]
NP_001121649.1. NM_001128177.1. [P10828-1]
NP_001239563.1. NM_001252634.1. [P10828-1]
XP_005265478.1. XM_005265421.4. [P10828-1]
XP_005265480.1. XM_005265423.4. [P10828-1]
XP_005265481.1. XM_005265424.3. [P10828-1]
XP_006713380.1. XM_006713317.3. [P10828-1]
XP_006713381.1. XM_006713318.3. [P10828-1]
XP_011532348.1. XM_011534046.2. [P10828-1]
XP_011532349.1. XM_011534047.2. [P10828-1]
XP_011532350.1. XM_011534048.2. [P10828-1]
XP_011532351.1. XM_011534049.2. [P10828-1]
XP_011532352.1. XM_011534050.2. [P10828-1]
XP_011532353.1. XM_011534051.2. [P10828-1]
XP_011532354.1. XM_011534052.2. [P10828-1]
UniGeneiHs.187861.
Hs.713754.

Genome annotation databases

EnsembliENST00000280696; ENSP00000280696; ENSG00000151090. [P10828-2]
ENST00000356447; ENSP00000348827; ENSG00000151090. [P10828-1]
ENST00000396671; ENSP00000379904; ENSG00000151090. [P10828-1]
ENST00000416420; ENSP00000414444; ENSG00000151090. [P10828-1]
GeneIDi7068.
KEGGihsa:7068.
UCSCiuc003ccx.5. human. [P10828-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M26747 mRNA. Translation: AAA35677.1. Different initiation.
X04707 mRNA. Translation: CAA28412.1. Different initiation.
AK096628 mRNA. Translation: BAG53341.1.
AC012087 Genomic DNA. No translation available.
AC093927 Genomic DNA. No translation available.
AC098971 Genomic DNA. No translation available.
AC099054 Genomic DNA. No translation available.
AC112217 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64345.1.
BC106929 mRNA. Translation: AAI06930.1.
BC106930 mRNA. Translation: AAI06931.1.
AY286465 mRNA. Translation: AAQ23704.1.
AY286466 mRNA. Translation: AAQ23705.1.
AY286467 mRNA. Translation: AAQ23706.1.
AY286468 mRNA. Translation: AAQ23707.1.
AY286469 mRNA. Translation: AAQ23708.1.
AY286470 mRNA. Translation: AAQ23709.1.
AY286471 mRNA. Translation: AAQ23710.1.
X74497 mRNA. Translation: CAA52606.1.
CCDSiCCDS2641.1. [P10828-1]
PIRiA25237. TVHUAR.
S40152.
RefSeqiNP_000452.2. NM_000461.4. [P10828-1]
NP_001121648.1. NM_001128176.2. [P10828-1]
NP_001121649.1. NM_001128177.1. [P10828-1]
NP_001239563.1. NM_001252634.1. [P10828-1]
XP_005265478.1. XM_005265421.4. [P10828-1]
XP_005265480.1. XM_005265423.4. [P10828-1]
XP_005265481.1. XM_005265424.3. [P10828-1]
XP_006713380.1. XM_006713317.3. [P10828-1]
XP_006713381.1. XM_006713318.3. [P10828-1]
XP_011532348.1. XM_011534046.2. [P10828-1]
XP_011532349.1. XM_011534047.2. [P10828-1]
XP_011532350.1. XM_011534048.2. [P10828-1]
XP_011532351.1. XM_011534049.2. [P10828-1]
XP_011532352.1. XM_011534050.2. [P10828-1]
XP_011532353.1. XM_011534051.2. [P10828-1]
XP_011532354.1. XM_011534052.2. [P10828-1]
UniGeneiHs.187861.
Hs.713754.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1BSXX-ray3.70A/B202-461[»]
1N46X-ray2.20A/B204-461[»]
1NAXX-ray2.70A209-460[»]
1NQ0X-ray2.40A202-461[»]
1NQ1X-ray2.90A202-461[»]
1NQ2X-ray2.40A202-461[»]
1NUOX-ray3.10A202-461[»]
1Q4XX-ray2.80A209-461[»]
1R6GX-ray3.00A203-461[»]
1XZXX-ray2.50X202-461[»]
1Y0XX-ray3.10X202-461[»]
2J4AX-ray2.20A209-461[»]
2NLLX-ray1.90B104-204[»]
2PINX-ray2.30A/B209-461[»]
3D57X-ray2.20A/B209-460[»]
3GWSX-ray2.20X202-460[»]
3IMYX-ray2.55A202-461[»]
3JZCX-ray2.50A202-461[»]
4ZO1X-ray3.22X210-461[»]
ProteinModelPortaliP10828.
SMRiP10828. Positions 94-460.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112924. 55 interactions.
DIPiDIP-5991N.
IntActiP10828. 10 interactions.
MINTiMINT-1508903.
STRINGi9606.ENSP00000348827.

Chemistry

BindingDBiP10828.
ChEMBLiCHEMBL2111462.
DrugBankiDB00509. Dextrothyroxine.
DB00451. Levothyroxine.
DB00279. Liothyronine.
DB01583. Liotrix.
GuidetoPHARMACOLOGYi589.

PTM databases

iPTMnetiP10828.
PhosphoSiteiP10828.

Polymorphism and mutation databases

BioMutaiTHRB.
DMDMi586092.

Proteomic databases

MaxQBiP10828.
PaxDbiP10828.
PeptideAtlasiP10828.
PRIDEiP10828.

Protocols and materials databases

DNASUi7068.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280696; ENSP00000280696; ENSG00000151090. [P10828-2]
ENST00000356447; ENSP00000348827; ENSG00000151090. [P10828-1]
ENST00000396671; ENSP00000379904; ENSG00000151090. [P10828-1]
ENST00000416420; ENSP00000414444; ENSG00000151090. [P10828-1]
GeneIDi7068.
KEGGihsa:7068.
UCSCiuc003ccx.5. human. [P10828-1]

Organism-specific databases

CTDi7068.
GeneCardsiTHRB.
HGNCiHGNC:11799. THRB.
HPAiCAB002008.
CAB002009.
HPA061035.
MalaCardsiTHRB.
MIMi145650. phenotype.
188570. phenotype.
190160. gene.
274300. phenotype.
neXtProtiNX_P10828.
Orphaneti3221. Generalized resistance to thyroid hormone.
97927. Peripheral resistance to thyroid hormones.
165994. Selective pituitary resistance to thyroid hormone.
PharmGKBiPA36508.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575. Eukaryota.
ENOG410XRZC. LUCA.
GeneTreeiENSGT00840000129681.
HOGENOMiHOG000010313.
HOVERGENiHBG005606.
InParanoidiP10828.
KOiK08362.
OMAiWELIKIV.
OrthoDBiEOG091G0GC1.
PhylomeDBiP10828.
TreeFamiTF328382.

Enzyme and pathway databases

ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiP10828.
SIGNORiP10828.

Miscellaneous databases

ChiTaRSiTHRB. human.
EvolutionaryTraceiP10828.
GeneWikiiThyroid_hormone_receptor_beta.
GenomeRNAii7068.
PROiP10828.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151090.
CleanExiHS_THRB.
ExpressionAtlasiP10828. baseline and differential.
GenevisibleiP10828. HS.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR001728. ThyrH_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
PR00546. THYROIDHORMR.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTHB_HUMAN
AccessioniPrimary (citable) accession number: P10828
Secondary accession number(s): B3KU79
, P37243, Q13986, Q3KP35, Q6WGL2, Q9UD41
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: October 1, 1994
Last modified: September 7, 2016
This is version 205 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.