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

Gene ID: 7067, updated on 27-Apr-2015
Official Symbol
THRAprovided by HGNC
Official Full Name
thyroid hormone receptor, alphaprovided by HGNC
Primary source
HGNC:HGNC:11796
See related
Ensembl:ENSG00000126351; HPRD:07185; 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]
Orthologs
See THRA in MapViewer
Location:
17q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 (Drosophila) Neighboring gene cancer susceptibility candidate 3 Neighboring gene microRNA 6866

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC43240, MGC000261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
TBP-class protein binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IEA
Inferred from Electronic Annotation
more info
 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
steroid receptor RNA activator RNA binding 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 IDA
Inferred from Direct Assay
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 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Type I pneumocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic sequestering of transcription factor IEA
Inferred from Electronic Annotation
more info
 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
female courtship behavior IEA
Inferred from Electronic Annotation
more info
 
gene expression TAS
Traceable Author Statement
more info
 
hormone-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intracellular receptor 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
 
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, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
ossification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of female receptivity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
response to cold IEA
Inferred from Electronic Annotation
more info
 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
thyroid gland development IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
thyroid hormone receptor alpha
Names
thyroid hormone receptor alpha
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 (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)
thyroid normone nuclear receptor alpha variant 1
triiodothyronine receptor

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, OTTHUMP00000262004, ENST00000584985, 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, OTTHUMP00000262003, ENST00000394121, 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, OTTHUMP00000164469, ENST00000264637, 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
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    38454163..38485823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)