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

Gene ID: 7067, updated on 2-Oct-2018

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; Vega:OTTHUMG00000133332
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; ERB-T-1; c-ERBA-1
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

Genomic context

See THRA in Genome Data Viewer
Location:
17q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (40062193..40093867)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38218446..38250120)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 24 Neighboring gene small nucleolar RNA, C/D box 124 Neighboring gene microRNA 6884 Neighboring gene nuclear receptor subfamily 1 group D member 1 Neighboring gene male specific lethal 1 homolog Neighboring gene CASC3, exon junction complex subunit Neighboring gene microRNA 6866

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypothyroidism, congenital, nongoitrous, 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

NHGRI GWAS Catalog

Description
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA Catalog

HIV-1 interactions

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 BioSystems

  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC43240, MGC000261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TBP-class protein binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
thyroid hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
thyroid hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
female courtship behavior IEA
Inferred from Electronic Annotation
more info
 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of DNA-templated transcription, initiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of RNA polymerase II transcriptional preinitiation complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
ossification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of female receptivity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of myeloid cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of thyroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
response to cold IEA
Inferred from Electronic Annotation
more info
 
response to lipid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
thyroid gland development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
type I pneumocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
thyroid hormone receptor alpha
Names
EAR-7
ERBA-related 7
V-erbA-related protein 7
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)
thyroid normone nuclear receptor alpha variant 1
triiodothyronine receptor

NCBI Reference Sequences (RefSeq)

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
    5001..36675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190918.1NP_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/Swiss-Prot
    P10827
    Related
    ENSP00000463466.1, OTTHUMP00000262004, ENST00000584985.5, OTTHUMT00000447399
    Conserved Domains (2) summary
    cd06935
    Location:162377
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  2. NM_001190919.1NP_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
    P10827
    Related
    ENSP00000377679.4, OTTHUMP00000262003, ENST00000394121.8, OTTHUMT00000447397
    Conserved Domains (2) summary
    cd06935
    Location:162370
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  3. NM_003250.5NP_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
    P10827
    Related
    ENSP00000264637.4, OTTHUMP00000164469, ENST00000264637.8, OTTHUMT00000257160
    Conserved Domains (2) summary
    cd06935
    Location:162370
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  4. NM_199334.3NP_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/Swiss-Prot
    P10827
    UniProtKB/TrEMBL
    Q6FH41
    Related
    ENSP00000395641.2, OTTHUMP00000164470, ENST00000450525.6, OTTHUMT00000257161
    Conserved Domains (2) summary
    cd06935
    Location:162404
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:52138
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

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