TACR3
entrez
6870
canonical
uniprot
P29371
canonical
ensembl
ENSG00000169836
resolver
ensp
ENSP00000303325
resolver
enst
ENST00000304883
resolver
genesymbol
TACR3
resolver
genesymbol_syn
NK3R
resolver
genesymbol_syn
TAC3R
resolver
hgnc
HGNC:11528
resolver
uniprot
Q0P510
resolver
uniprot_entry
NK3R_HUMAN
resolver
uniprot_sec
Q0P510
resolver
amino_acid_sequence
MATLPAAETWIDGGGGVGADAVNLTASLAAGAATGAVETGWLQLLDQAGNLSSSPSALGLPVASPAPSQPWANLTNQFVQPSWRIALWSLAYGVVVAVAVLGNLIVIWIILAHKRMRTVTNYFLVNLAFSDASMAAFNTLVNFIYALHSEWYFGANYCRFQNFFPITAVFASIYSMTAIAVDRYMAIIDPLKPRLSATATKIVIGSIWILAFLLAFPQCLYSKTKVMPGRTLCFVQWPEGPKQHFTYHIIVIILVYCFPLLIMGITYTIVGITLWGGEIPGDTCDKYHEQLKAKRKVVKMMIIVVMTFAICWLPYHIYFILTAIYQQLNRWKYIQQVYLASFWLAMSSTMYNPIIYCCLNKRFRAGFKRAFRWCPFIKVSSYDELELKTTRFHPNRQSSMYTVTRMESMTVVFDPNDADTTRSSRKKRATPRDPSFNGCSRRNSKSASATSSFISSPYTSVDEYS
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:19079066, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in TACR3 as well as in other HH-associated genes including FGFR1, SPRY4 and KAL1 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
uniprot
proteins
function
FUNCTION: Receptor for the tachykinin neuromedin-K (neurokinin B), also able to bind and respond to tachynins substance K/neurokinin A and substance P (PubMed:1312036, PubMed:37391393). The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K and substance P (PubMed:1312036). Neuromedin-K binding to its receptor triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol hydrolysis by phospholipase C (PubMed:37391393). Neuromedin-K binding also triggers signaling via activation of adenylate cyclase activity which results in increased intracellular levels of cyclic AMP (cAMP) (By similarity). {ECO:0000250|UniProtKB:P16177, ECO:0000269|PubMed:1312036, ECO:0000269|PubMed:37391393}.
uniprot
proteins
mass_dalton
52202
uniprot
proteins
mutagenesis
MUTAGEN 78; /note="F->A: Decreased sensitivity to activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 78; /note="F->V: Loss of activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 138; /note="N->A: Loss of activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 142; /note="N->A: Decreased sensitivity to activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 166; /note="I->A: Decreased sensitivity to activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 232; /note="L->F: No effect on activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 315; /note="Y->A: Decreased sensitivity to activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 319; /note="F->A: Decreased sensitivity to activation by NKB."; /evidence="ECO:0000269|PubMed:37391393"; MUTAGEN 338; /note="Y->A: Loss of activation by NKB."; /evidence="ECO:0000269|PubMed:37391393
uniprot
proteins
post_translational_modification
PTM: The anchoring of this receptor to the plasma membrane is probably mediated by the palmitoylation of a cysteine residue.
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
1312036
uniprot
proteins
pubmed
1312928
uniprot
proteins
pubmed
1374246
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19079066
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
37391393
uniprot
proteins
pubmed
37968728
uniprot
proteins
sequence_length
465
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:37968728}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 85..107; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 118..139; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 160..181; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 246..270; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 300..321; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 335..359; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins