Thyroid hormone receptor alpha (TR-alpha) also known as nuclear receptor subfamily 1, group A, member 1 (NR1A1), is a

nuclear receptor In the field of molecular biology, nuclear receptors are a class of proteins responsible for sensing steroids, thyroid hormones, vitamins, and certain other molecules. These intracellular receptors work with other proteins to regulate the ex ...

protein that in humans is encoded by the ''THRA'' gene.

Function

The protein encoded by this gene is a nuclear hormone receptor for

triiodothyronine Triiodothyronine, also known as T3, is a thyroid hormone. It affects almost every physiological process in the body, including growth and development, metabolism, body temperature, and heart rate. Production of T3 and its prohormone thyroxi ...

. It is one of the several

receptors Receptor may refer to: *Sensory receptor, in physiology, any neurite structure that, on receiving environmental stimuli, produces an informative nerve impulse *Receptor (biochemistry), in biochemistry, a protein molecule that receives and responds ...

for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone.

Knockout A knockout (abbreviated to KO or K.O.) is a fight-ending, winning criterion in several full-contact combat sports, such as boxing, kickboxing, Muay Thai, mixed martial arts, karate, some forms of taekwondo and other sports involving striking, ...

studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone.

Alternatively spliced Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ...

transcript variants encoding distinct

isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...

have been reported.

Role in pathology

Mutations of the THRA gene may cause nongoitrous congenital hypothyroidism-6, a subtype of

congenital hypothyroidism Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with co ...

Interactions

THR1 has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...

with: *

COPS2 COP9 signalosome complex subunit 2 is a protein that in humans is encoded by the ''COPS2'' gene. It encodes a subunit of the COP9 signalosome. Interactions COPS2 has been shown to interact with: * DAX1, * IRF8 Interferon regulatory facto ...

, *

EP300 Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme that, in humans, is encoded by the ''EP300'' gene. It functions as histone ace ...

, *

ITGB3BP Centromere protein R is a protein that in humans is encoded by the ''ITGB3BP'' gene. Interactions ITGB3BP has been shown to interact with: * CD61, * Cyclin A2, * NFKB1 Nuclear factor NF-kappa-B p105 subunit is a protein that in humans is enco ...

, *

MED1 Mediator of RNA polymerase II transcription subunit 1 also known as DRIP205 or Trap220 is a subunit of the Mediator complex and is a protein that in humans is encoded by the ''MED1'' gene. MED1 functions as a nuclear receptor coactivator. Funct ...

, *

MED6 Mediator of RNA polymerase II transcription subunit 6 is one of the subunits of the Mediator complex. It is an enzyme that in humans is encoded by the ''MED6'' gene. Protein family This family of proteins represent the transcriptional media ...

, *

MED12 Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome. Clinical significance Mutations in ''MED12'' are responsible for at least two different forms of X ...

, *

MED16 Mediator of RNA polymerase II transcription subunit 16 is an enzyme that in humans is encoded by the ''MED16'' gene. Interactions MED16 has been shown to interact with Thyroid hormone receptor alpha, Estrogen receptor alpha and Cyclin-dependen ...

, *

MEF2A Myocyte-specific enhancer factor 2A is a protein that in humans is encoded by the ''MEF2A'' gene. MEF2A is a transcription factor in the Mef2 family. In humans it is located on chromosome 15q26. Certain mutations in MEF2A cause an autosomal do ...

, *

NCOA6 Nuclear receptor coactivator 6 is a protein that in humans is encoded by the ''NCOA6'' gene. Function The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transc ...

, * TRIP11, and *

UBC The University of British Columbia (UBC) is a Public university, public research university with campuses near University of British Columbia Vancouver, Vancouver and University of British Columbia Okanagan, Kelowna, in British Columbia, Canada ...

Function

Role in pathology

Interactions

References

Further reading