UniProt functional annotation for P34981



	UniProt functional annotation for P34981

UniProt code: P34981.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway. {ECO:0000269|PubMed:26735259, ECO:0000269|PubMed:9141550}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:26735259}; Multi-pass membrane protein {ECO:0000255}.

Disease: Hypothyroidism, congenital, non-goitrous, 7 (CHNG7) [MIM:618573]: A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin-releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue. {ECO:0000269|PubMed:19213692, ECO:0000269|PubMed:26735259, ECO:0000269|PubMed:28419241, ECO:0000269|PubMed:9141550}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule:PRU00521}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway. {ECO:0000269\|PubMed:26735259, ECO:0000269\|PubMed:9141550}.


Subcellular location:		Cell membrane {ECO:0000269\|PubMed:26735259}; Multi-pass membrane protein {ECO:0000255}.
Disease:		Hypothyroidism, congenital, non-goitrous, 7 (CHNG7) [MIM:618573]: A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin-releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue. {ECO:0000269\|PubMed:19213692, ECO:0000269\|PubMed:26735259, ECO:0000269\|PubMed:28419241, ECO:0000269\|PubMed:9141550}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. {ECO:0000255\|PROSITE-ProRule:PRU00521}.