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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Life Without Thyroid Hormone Receptor.
Title: Life Without Thyroid Hormone Receptor.
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.
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 EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:180966 (e-PCR)
- UniSTS:155146

PMC64989P2 (e-PCR)
- UniSTS:273426

D17S1644E (e-PCR)
- UniSTS:147478

NR1D1_2626 (e-PCR)
- UniSTS:280871

SHGC-155386 (e-PCR)
- UniSTS:183088

SHGC-156300 (e-PCR)
- UniSTS:183097

GDB:188665 (e-PCR)
- UniSTS:38486

AW259572 (e-PCR)
- UniSTS:180310

MARC_26124-26125:1030369359:1 (e-PCR)
- UniSTS:268948

THRA (e-PCR), detects polymorphism
- UniSTS:279191

D10S2160 (e-PCR)
- UniSTS:66466

GDB:196130 (e-PCR)
- UniSTS:155813

PMC87157P2 (e-PCR)
- UniSTS:273585

RH125185 (e-PCR)
- UniSTS:162007

MARC_5497-5498:996690469:1 (e-PCR)
- UniSTS:269530

THRA_2263 (e-PCR)
- UniSTS:281056

D17S2189 (e-PCR)
- UniSTS:53986

D17S1979 (e-PCR)
- UniSTS:34023

RH110 (e-PCR)
- UniSTS:25599

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

NG_023345.1 RefSeqGene

Range

5773..35810

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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