InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FSHR

Summary

InnateDB Protein

IDBP-51450.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FSHR

Protein Name

follicle stimulating hormone receptor

Synonyms

FSHRO; LGR1; ODG1;

Species

Homo sapiens

Ensembl Protein

ENSP00000306780

InnateDB Gene

IDBG-51448 (FSHR)

Protein Structure

UniProt Annotation

Function

Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed:10551778, ECO:0000269PubMed:11889179, ECO:0000269PubMed:12571157, ECO:0000269PubMed:12915623, ECO:0000269PubMed:7553856, ECO:0000269PubMed:9769327, ECO:0000269PubMed:9851774}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:12930927, ECO:0000269PubMed:12930928, ECO:0000269PubMed:15080154, ECO:0000269PubMed:16278261, ECO:0000269PubMed:17721928}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Sertoli cells and ovarian granulosa cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.

Experimentally validated
Total	22 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0005515	protein binding

Biological Process

GO:0007186	G-protein coupled receptor signaling pathway
GO:0007283	spermatogenesis
GO:0007292	female gamete generation
GO:0008406	gonad development
GO:0008584	male gonad development
GO:0008585	female gonad development

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000276 G protein-coupled receptor, rhodopsin-like
IPR000372 Leucine-rich repeat-containing N-terminal
IPR001611 Leucine-rich repeat
IPR002131 Glycoprotein hormone receptor family
IPR002272 Follicle stimulating hormone receptor
IPR017452 GPCR, rhodopsin-like, 7TM
IPR024635 Gonadotropin hormone receptor, transmembrane domain

PFAM

PF00001
PF01462
PF00560
PF13504
PF13855
PF12369

PRINTS

PR00237
PR00373
PR01143

PIRSF

SMART

SM00013

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt