TRHR
entrez
7201
canonical
uniprot
P34981
canonical
ensembl
ENSG00000174417
resolver
ensp
ENSP00000309818
resolver
ensp
ENSP00000430711
resolver
enst
ENST00000311762
resolver
enst
ENST00000518632
resolver
genesymbol
TRHR
resolver
hgnc
HGNC:12299
resolver
uniprot
Q2M339
resolver
uniprot_entry
TRFR_HUMAN
resolver
uniprot_sec
Q2M339
resolver
amino_acid_sequence
MENETVSELNQTQLQPRAVVALEYQVVTILLVLIICGLGIVGNIMVVLVVMRTKHMRTPTNCYLVSLAVADLMVLVAAGLPNITDSIYGSWVYGYVGCLCITYLQYLGINASSCSITAFTIERYIAICHPIKAQFLCTFSRAKKIIIFVWAFTSLYCMLWFFLLDLNISTYKDAIVISCGYKISRNYYSPIYLMDFGVFYVVPMILATVLYGFIARILFLNPIPSDPKENSKTWKNDSTHQNTNLNVNTSNRCFNSTVSSRKQVTKMLAVVVILFALLWMPYRTLVVVNSFLSSPFQENWFLLFCRICIYLNSAINPVIYNLMSQKFRAAFRKLCNCKQKPTEKPANYSVALNYSVIKESDHFSTELDDITVTDTYLSATKVSFDDTCLASEVSFSQS
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
45085
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19213692
uniprot
proteins
pubmed
26735259
uniprot
proteins
pubmed
28419241
uniprot
proteins
pubmed
7918619
uniprot
proteins
pubmed
8243797
uniprot
proteins
pubmed
8395824
uniprot
proteins
pubmed
8396925
uniprot
proteins
pubmed
8703031
uniprot
proteins
pubmed
8770906
uniprot
proteins
pubmed
9141550
uniprot
proteins
pubmed
9886052
uniprot
proteins
sequence_length
398
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26735259}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 29..51; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 62..83; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 100..121; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 145..168; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 194..215; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 267..288; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 297..319; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins