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THRA thyroid hormone receptor alpha [ Homo sapiens (human) ]

Gene ID: 7067, updated on 2-Nov-2024

Summary

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Official Symbol
THRAprovided by HGNC
Official Full Name
thyroid hormone receptor alphaprovided by HGNC
Primary source
HGNC:HGNC:11796
See related
Ensembl:ENSG00000126351 MIM:190120; AllianceGenome:HGNC:11796
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AR7; EAR7; ERBA; CHNG6; ERBA1; NR1A1; THRA1; THRA2; c-erbA; ERB-T-1; TRalpha; THRalpha; TRalpha1; TRalpha2; c-ERBA-1; THRalpha1; THRalpha2
Summary
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 66.6), ovary (RPKM 38.9) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See THRA in Genome Data Viewer
Location:
17q21.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40062193..40093867)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40926078..40957752)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38218446..38250120)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38182900-38183810 Neighboring gene mediator complex subunit 24 Neighboring gene small nucleolar RNA, C/D box 124 Neighboring gene microRNA 6884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38191855-38192722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38216829-38217416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38217417-38218004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38218005-38218590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38227151-38227756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38231037-38231892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38246843-38247468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38247469-38248095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12125 Neighboring gene Sharpr-MPRA regulatory region 6187 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:38254986-38256185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38259215-38260094 Neighboring gene nuclear receptor subfamily 1 group D member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38262999-38263628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38264065-38264599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38264600-38265133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38266388-38267328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12129 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38270115-38270902 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38270903-38271688 Neighboring gene uncharacterized LOC124904001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:38279065-38279703 Neighboring gene MSL complex subunit 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment. van Mullem AA, et al. J Clin Endocrinol Metab, 2013 Jul. PMID 23633213
  2. Heterodimerization preferences of thyroid hormone receptor alpha isoforms. Nagaya T, et al. Biochem Biophys Res Commun, 1996 Sep 13. PMID 8806651
  3. TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone. Vlaeminck-Guillem V, et al. Presse Med, 2015 Nov. PMID 26585273
  4. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). Tylki-Szymańska A, et al. J Med Genet, 2015 May. PMID 25670821
  5. Thyroid hormone receptor α in breast cancer: prognostic and therapeutic implications. Jerzak KJ, et al. Breast Cancer Res Treat, 2015 Jan. PMID 25542270

See all (213) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain.
    Title: RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain.
  2. Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development.
    Title: Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development.
  3. Thyroid hormone receptor alpha1: a novel regulator of thyroid cancer cell differentiation.
    Title: Thyroid hormone receptor α1: a novel regulator of thyroid cancer cell differentiation.
  4. Regulation of the THRA gene, encoding the thyroid hormone nuclear receptor TRalpha1, in intestinal lesions.
    Title: Regulation of the THRA gene, encoding the thyroid hormone nuclear receptor TRα1, in intestinal lesions.
  5. Low thyroid hormone receptor alpha-2 (THRalpha-2) tumor expression is associated with unfavorable tumor characteristics and high breast cancer mortality.
    Title: Low thyroid hormone receptor alpha-2 (THRα-2) tumor expression is associated with unfavorable tumor characteristics and high breast cancer mortality.
  6. Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
    Title: Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
  7. Thyroid hormone receptor alpha1 acts as a new squamous cell lung cancer diagnostic marker and poor prognosis predictor.
    Title: Thyroid hormone receptor α1 acts as a new squamous cell lung cancer diagnostic marker and poor prognosis predictor.
  8. Life Without Thyroid Hormone Receptor.
    Title: Life Without Thyroid Hormone Receptor.
  9. A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
    Title: A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
  10. Thyroid Hormone Facilitates in vitro Decidualization of Human Endometrial Stromal Cells via Thyroid Hormone Receptors.
    Title: Thyroid Hormone Facilitates in vitro Decidualization of Human Endometrial Stromal Cells via Thyroid Hormone Receptors.
Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital nongoitrous hypothyroidism 6
MedGen: C3280817 OMIM: 614450 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2013-08-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2013-08-22)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Multiple loci are associated with white blood cell phenotypes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Thyroid hormone (T3) receptor alpha (T3Ralpha) binds to HIV-1 Tat, an interaction mediated through the DNA-binding domain of T3Ralpha (amino acids 51-118) and the arginine-rich basic region (amino acids 49-57) and possibly amino acids 58-72 of Tat PubMed
tat HIV-1 Tat synergizes with thyroid hormone (T3) receptor alpha to activate the HIV-1 LTR promoter in the absence of T3, which is relieved in its presence, suggesting a possible role for T3 in the control of HIV-1 gene expression PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC43240, MGC000261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables TBP-class protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables general transcription initiation factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables thyroid hormone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables thyroid hormone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cartilage condensation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in female courtship behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in hormone-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in learning or memory IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription initiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of RNA polymerase II transcription preinitiation complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of female receptivity IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of thyroid hormone receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of myeloid cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of thyroid hormone receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to cold IEA
Inferred from Electronic Annotation
more info
  
involved_in retinoic acid receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in thyroid gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in thyroid hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in type I pneumocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex EXP
Inferred from Experiment
more info
 PubMed 
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
thyroid hormone receptor alpha
Names
EAR-7
ERBA-related 7
V-erbA-related protein 7
c-erbA protooncogene
c-erbA-alpha
nuclear receptor subfamily 1 group A member 1
thyroid hormone receptor alpha 1
thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)
triiodothyronine receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023345.1 RefSeqGene

    Range
    5773..35810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190918.2 → NP_001177847.1  thyroid hormone receptor alpha isoform 3

    See identical proteins and their annotated locations for NP_001177847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 2. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 2.
    Source sequence(s)
    BC000261, BC035137
    Consensus CDS
    CCDS58546.1
    UniProtKB/TrEMBL
    A8K206
    Related
    ENSP00000463466.1, ENST00000584985.5
    Conserved Domains (2) summary
    cd06935
    Location:162 → 377
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52 → 138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

  2. NM_001190919.2 → NP_001177848.1  thyroid hormone receptor alpha isoform 2

    See identical proteins and their annotated locations for NP_001177848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 2 and 4 both encode the same isoform (2).
    Source sequence(s)
    AK290530, BC000261
    Consensus CDS
    CCDS11360.1
    UniProtKB/Swiss-Prot
    A8K3B5, P10827, P21205, Q8N6A1, Q96H73
    Related
    ENSP00000377679.4, ENST00000394121.8
    Conserved Domains (2) summary
    cd06935
    Location:162 → 370
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52 → 138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

  3. NM_003250.6 → NP_003241.2  thyroid hormone receptor alpha isoform 2

    See identical proteins and their annotated locations for NP_003241.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). Variants 2 and 4 both encode the same isoform (2).
    Source sequence(s)
    BC000261, BC035137
    Consensus CDS
    CCDS11360.1
    UniProtKB/Swiss-Prot
    A8K3B5, P10827, P21205, Q8N6A1, Q96H73
    Related
    ENSP00000264637.4, ENST00000264637.8
    Conserved Domains (2) summary
    cd06935
    Location:162 → 370
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52 → 138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

  4. NM_199334.5 → NP_955366.1  thyroid hormone receptor alpha isoform 1

    See identical proteins and their annotated locations for NP_955366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has a different 3' end exon compared to variant 2. The resulting isoform (1) is shorter and has a distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AC068669, BC035137, X55005
    Consensus CDS
    CCDS42316.1
    UniProtKB/TrEMBL
    A8K206, Q6FH41
    Related
    ENSP00000395641.3, ENST00000450525.7
    Conserved Domains (2) summary
    cd06935
    Location:162 → 404
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52 → 138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40062193..40093867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436632.1 → XP_047292588.1  thyroid hormone receptor alpha isoform X1

    UniProtKB/TrEMBL
    Q6FH41

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40926078..40957752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317032.1 → XP_054173007.1  thyroid hormone receptor alpha isoform X1

    UniProtKB/TrEMBL
    Q6FH41
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10827.1 GenPept UniProtKB/Swiss-Prot:P10827

Gene LinkOut

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