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

    Gene ID: 7067, updated on 19-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See THRA in Genome Data Viewer
    Location:
    17q21.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40062193..40093867)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40926078..40957752)
    105.20220307 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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 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 transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 mediated 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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

    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)

    NEW Try the new Transcript table

    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_001190918.2NP_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: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_001190919.2NP_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: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_003250.6NP_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: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_199334.5NP_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: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: GCF_000001405.40-RS_2023_10

    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_047436632.1XP_047292588.1  thyroid hormone receptor alpha isoform X1

      UniProtKB/TrEMBL
      A8K206, 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_054317032.1XP_054173007.1  thyroid hormone receptor alpha isoform X1

      UniProtKB/TrEMBL
      A8K206, Q6FH41