UniProt functional annotation for P23945



	UniProt functional annotation for P23945

UniProt code: P23945.

Organism: Homo sapiens (Human).

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

Function: G protein-coupled receptor for follitropin, the follicle- stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690). {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:24058690, ECO:0000269|PubMed:24692546}.

Subunit: Homotrimer. Functions as a homotrimer binding the FSH hormone heterodimer composed of CGA and FSHB (PubMed:24692546). Interacts with ARRB2 (By similarity). Interacts with APPL2; interaction is independent of follicle stimulating hormone stimulation (PubMed:17030088). {ECO:0000250|UniProtKB:P20395, ECO:0000269|PubMed:17030088, ECO:0000269|PubMed:24692546}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:24692546}; Multi-pass membrane protein {ECO:0000305}.

Tissue specificity: Sertoli cells and ovarian granulosa cells.

Ptm: Sulfated. {ECO:0000269|PubMed:11847099}.

Ptm: N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone. {ECO:0000250|UniProtKB:P20395}.

Disease: Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). {ECO:0000269|PubMed:10551778, ECO:0000269|PubMed:11889179, ECO:0000269|PubMed:12571157, ECO:0000269|PubMed:12915623, ECO:0000269|PubMed:7553856, ECO:0000269|PubMed:9769327, ECO:0000269|PubMed:9851774}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]: Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. {ECO:0000269|PubMed:12930927, ECO:0000269|PubMed:12930928, ECO:0000269|PubMed:15080154, ECO:0000269|PubMed:16278261, ECO:0000269|PubMed:17721928, ECO:0000269|PubMed:24058690, ECO:0000269|PubMed:25581598}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. {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:		G protein-coupled receptor for follitropin, the follicle- stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690). {ECO:0000269\|PubMed:11847099, ECO:0000269\|PubMed:24058690, ECO:0000269\|PubMed:24692546}.


Subunit:		Homotrimer. Functions as a homotrimer binding the FSH hormone heterodimer composed of CGA and FSHB (PubMed:24692546). Interacts with ARRB2 (By similarity). Interacts with APPL2; interaction is independent of follicle stimulating hormone stimulation (PubMed:17030088). {ECO:0000250\|UniProtKB:P20395, ECO:0000269\|PubMed:17030088, ECO:0000269\|PubMed:24692546}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:11847099, ECO:0000269\|PubMed:24692546}; Multi-pass membrane protein {ECO:0000305}.
Tissue specificity:		Sertoli cells and ovarian granulosa cells.
Ptm:		Sulfated. {ECO:0000269\|PubMed:11847099}.
Ptm:		N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone. {ECO:0000250\|UniProtKB:P20395}.
Disease:		Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). {ECO:0000269\|PubMed:10551778, ECO:0000269\|PubMed:11889179, ECO:0000269\|PubMed:12571157, ECO:0000269\|PubMed:12915623, ECO:0000269\|PubMed:7553856, ECO:0000269\|PubMed:9769327, ECO:0000269\|PubMed:9851774}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]: Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. {ECO:0000269\|PubMed:12930927, ECO:0000269\|PubMed:12930928, ECO:0000269\|PubMed:15080154, ECO:0000269\|PubMed:16278261, ECO:0000269\|PubMed:17721928, ECO:0000269\|PubMed:24058690, ECO:0000269\|PubMed:25581598}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. {ECO:0000255\|PROSITE-ProRule:PRU00521}.