Reviewed,
UniProtKB/Swiss-Prot P23945 (FSHR_HUMAN)
Last modified
July 7, 2009.
Version 113.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
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Names and origin
| Protein names | Recommended name: Follicle-stimulating hormone receptor Short name=FSH-R Alternative name(s): Follitropin receptor | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 695 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. |
| Subcellular location | |
| Tissue specificity | Sertoli cells and ovarian granulosa cells. |
| Post-translational modification | N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone By similarity. |
| Involvement in disease | Defects in FSHR are a cause of ovarian dysgenesis 1 (ODG1) [MIM:233300]; also known as premature ovarian failure or gonadal dysgenesis XX type or XX gonadal dysgenesis (XXGD) or hereditary hypergonadotropic ovarian failure or hypergonadotropic ovarian dysgenesis with normal karyotype. ODG1 is an autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Ref.13 Ref.16 Ref.17 Ref.18 Ref.22 Ref.23 Ref.24 Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS) [MIM:608115]. OHSS is a 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. Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 |
| Sequence similarities | Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. Contains 10 LRR (leucine-rich) repeats. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: P23945-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform Short (identifier: P23945-2) The sequence of this isoform differs from the canonical sequence as follows: 224-285: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 17 | 17 | Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Chain | 18 – 695 | 678 | Follicle-stimulating hormone receptor | PRO_0000012771 | |||||||||||||||||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 18 – 366 | 349 | Extracellular Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 367 – 387 | 21 | 1 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 388 – 398 | 11 | Cytoplasmic Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 399 – 421 | 23 | 2 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 422 – 443 | 22 | Extracellular Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 444 – 465 | 22 | 3 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 466 – 485 | 20 | Cytoplasmic Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 486 – 508 | 23 | 4 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 509 – 528 | 20 | Extracellular Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 529 – 550 | 22 | 5 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 551 – 573 | 23 | Cytoplasmic Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 574 – 597 | 24 | 6 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 598 – 608 | 11 | Extracellular Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Transmembrane | 609 – 630 | 22 | 7 Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Topological domain | 631 – 695 | 65 | Cytoplasmic Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 18 – 48 | 31 | LRR 1 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 49 – 72 | 24 | LRR 2 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 73 – 97 | 25 | LRR 3 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 98 – 118 | 21 | LRR 4 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 119 – 143 | 25 | LRR 5 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 144 – 169 | 26 | LRR 6 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 170 – 192 | 23 | LRR 7 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 193 – 216 | 24 | LRR 8 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 217 – 240 | 24 | LRR 9 | ||||||||||||||||||||||||||||||||||||||||||||
| Repeat | 241 – 259 | 19 | LRR 10 | ||||||||||||||||||||||||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||||||||||||||||||||||||
| Glycosylation | 191 | 1 | N-linked (GlcNAc...) Ref.12 | ||||||||||||||||||||||||||||||||||||||||||||
| Glycosylation | 199 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Glycosylation | 293 | 1 | N-linked (GlcNAc...) By similarity | ||||||||||||||||||||||||||||||||||||||||||||
| Glycosylation | 318 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||||||||||||||||||||||||||||
| Disulfide bond | 18 ↔ 25 | Ref.12 | |||||||||||||||||||||||||||||||||||||||||||||
| Disulfide bond | 23 ↔ 32 | Ref.12 | |||||||||||||||||||||||||||||||||||||||||||||
| Disulfide bond | 442 ↔ 517 | By similarity | |||||||||||||||||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 224 – 285 | 62 | Missing in isoform Short. | VSP_001953 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 128 | 1 | S → Y in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH. Ref.29 | VAR_039279 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 160 | 1 | I → T in ODG1; impairs cell surface expression. Ref.17 | VAR_018045 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 189 | 1 | A → V in ODG1; very frequent in the Finnish population. Ref.13 Ref.16 | VAR_018046 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 224 | 1 | D → V in ODG1; FSH binding is barely detectable; impaired targeting to the cell membrane; adenylate cyclase stimulation by FSH is 4 +-2% residual activity. Ref.18 | VAR_039280 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 307 | 1 | T → A: dbSNP rs6165. Ref.1 Ref.19 Ref.21 | VAR_013903 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 348 | 1 | P → R in ODG1. Ref.23 | VAR_039281 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 419 | 1 | A → T in ODG1. Ref.22 | VAR_018047 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 449 | 1 | T → A in OHSS; increase of receptor sensitivity to both hCG and TSH together with an increase in basal activity. Ref.25 Ref.27 | VAR_039282 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 449 | 1 | T → I in OHSS. dbSNP rs28928870. Ref.25 Ref.27 | VAR_017244 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 519 | 1 | P → T in ODG1; totally impairs adenylate cyclase stimulation in vitro; alters the cell surface targeting of the receptor which remains trapped intracellularly. Ref.24 | VAR_039283 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 524 | 1 | S → R: dbSNP rs6167. Ref.19 | VAR_013904 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 545 | 1 | I → T in OHSS; displays promiscuous activation by both hCG and TSH together with detectable constitutive activity. Ref.28 | VAR_039284 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 567 | 1 | D → G in FSHR activation; 1.5-fold increase in basal cAMP production compared to the wild-type receptor indicating that this mutation leads to ligand-independent constitutive activation. | VAR_039285 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 567 | 1 | D → N in OHSS. dbSNP rs28928871. Ref.26 | VAR_017245 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 573 | 1 | R → C in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity. Ref.17 Ref.18 | VAR_018048 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 591 | 1 | F → S in ovarian sex cord tumor; loss of function. Ref.14 | VAR_018049 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 601 | 1 | L → V in ODG1; binds FSH with a similar affinity than the wild-type receptor; adenylate cyclase stimulation by FSH is 12 +-3% residual activity. Ref.18 | VAR_039286 | |||||||||||||||||||||||||||||||||||||||||||
| Natural variant | 680 | 1 | N → S Associated with longer menstrual cycles. dbSNP rs6166. Ref.1 Ref.19 Ref.21 Ref.10 | VAR_013905 | |||||||||||||||||||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 13 | 1 | S → R in CAA48179. Ref.8 | ||||||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 112 | 1 | N → T in AAA52477. Ref.1 | ||||||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 197 – 198 | 2 | EL → AV in AAA52477. Ref.1 | ||||||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 295 | 1 | S → P in CAA48179. Ref.8 | ||||||||||||||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 21 – 25 | 5 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 27 – 34 | 8 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 49 – 55 | 7 | |||||||||||||||||||||||||||||||||||||||||||||
| Turn | 63 – 68 | 6 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 74 – 79 | 6 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 88 – 93 | 6 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 99 – 103 | 5 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 115 – 117 | 3 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 124 – 129 | 6 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 143 – 145 | 3 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 147 – 153 | 7 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 168 – 171 | 4 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 173 – 176 | 4 | |||||||||||||||||||||||||||||||||||||||||||||
| Turn | 187 – 192 | 6 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 195 – 199 | 5 | |||||||||||||||||||||||||||||||||||||||||||||
| Turn | 211 – 216 | 6 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 221 – 224 | 4 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 235 – 237 | 3 | |||||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 243 – 253 | 11 | |||||||||||||||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and sequencing of human FSH receptor cDNA." Minegish T., Nakamura K., Takakura Y., Ibuki Y., Igarashi M. Biochem. Biophys. Res. Commun. 175:1125-1130(1991) [PubMed: 1709010] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ALA-307 AND SER-680. Tissue: Ovary. |
| [2] | "Expression of recombinant human follicle-stimulating hormone receptor: species-specific ligand binding, signal transduction, and identification of multiple ovarian messenger ribonucleic acid transcripts." Tilly J.L., Aihara T., Nishimori K., Jia X.-C., Billig H., Kowalski K.I., Perlas E.A., Hsueh A.J. Endocrinology 131:799-806(1992) [PubMed: 1322283] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells." Kelton C.A., Cheng S.V., Nugent N.P., Schweickhardt R.L., Rosenthal J.L., Overton S.A., Wands G.D., Kuzeja J.B., Luchette C.A., Chappel S.C. Mol. Cell. Endocrinol. 89:141-151(1992) [PubMed: 1301382] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis. |
| [4] | "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)." Kopatz S.A., Aronstam R.S., Sharma S.V. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). Tissue: Testis. |
| [6] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ALA-307 AND SER-680. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [8] | "Molecular cloning of a truncated isoform of the human follicle stimulating hormone receptor." Gromoll J., Gudermann T., Nieschlag E. Biochem. Biophys. Res. Commun. 188:1077-1083(1992) [PubMed: 1359889] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-342 (ISOFORM SHORT). Tissue: Testis. |
| [9] | "Characterization of the 5' flanking region of the human follicle-stimulating hormone receptor gene." Gromoll J., Dankbar B., Gudermann T. Mol. Cell. Endocrinol. 102:93-102(1994) [PubMed: 7926278] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-51. |
| [10] | "Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10." Gromoll J., Ried T., Holtgreve-Grez H., Nieschlag E., Gudermann T. J. Mol. Endocrinol. 12:265-271(1994) [PubMed: 7916967] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 286-695, VARIANT SER-680. |
| [11] | "Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions." Jiang X., Dreano M., Buckler D.R., Cheng S., Ythier A., Wu H., Hendrickson W.A., el Tayar N. Structure 3:1341-1353(1995) [PubMed: 8747461] [Abstract] Cited for: 3D-STRUCTURE MODELING OF 49-228. |
| [12] | "Structure of human follicle-stimulating hormone in complex with its receptor." Fan Q.R., Hendrickson W.A. Nature 433:269-277(2005) [PubMed: 15662415] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.92 ANGSTROMS) OF 17-268 IN COMPLEX WITH FSHA AND FSHB, DISULFIDE BONDS, GLYCOSYLATION AT ASN-191. |
| [13] | "Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure." Aittomaeki K., Lucena J.L.D., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., Kaskikari R., Sankila E.-M., Lehvaslaiho H., Engel A.R., Nieschlag E., Huhtaniemi I., de la Chapelle A. Cell 82:959-968(1995) [PubMed: 7553856] [Abstract] Cited for: VARIANT ODG1 VAL-189. |
| [14] | "A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors." Kotlar T.J., Young R.H., Albanese C., Crowley W.F. Jr., Scully R.E., Jameson J.L. J. Clin. Endocrinol. Metab. 82:1020-1026(1997) [PubMed: 9100567] [Abstract] Cited for: VARIANT OVARIAN SEX CORD TUMOR SER-591. |
| [15] | "An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man." Gromoll J., Simoni M., Nieschlag E. J. Clin. Endocrinol. Metab. 81:1367-1370(1996) [PubMed: 8636335] [Abstract] Cited for: VARIANT FSHR ACTIVATION GLY-567, CHARACTERIZATION OF VARIANT FSHR ACTIVATION GLY-567. |
| [16] | "The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry." Jiang M., Aittomaeki K., Nilsson C., Pakarinen P., Iitia A., Torresani T., Simonsen H., Goh V., Pettersson K., de la Chapelle A., Huhtaniemi I. J. Clin. Endocrinol. Metab. 83:4338-4343(1998) [PubMed: 9851774] [Abstract] Cited for: VARIANT ODG1 VAL-189. |
| [17] | "A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor." Beau I., Touraine P., Meduri G., Gougeon A., Desroches A., Matuchansky C., Milgrom E., Kuttenn F., Misrahi M. J. Clin. Invest. 102:1352-1359(1998) [PubMed: 9769327] [Abstract] Cited for: VARIANTS ODG1 THR-160 AND CYS-573. |
| [18] | "New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype." Touraine P., Beau I., Gougeon A., Meduri G., Desroches A., Pichard C., Detoeuf M., Paniel B., Prieur M., Zorn J.-R., Milgrom E., Kuttenn F., Misrahi M. Mol. Endocrinol. 13:1844-1854(1999) [PubMed: 10551778] [Abstract] Cited for: VARIANTS ODG1 VAL-224 AND VAL-601, CHARACTERIZATION OF VARIANTS ODG1 VAL-224; CYS-573 AND VAL-601. |
| [19] | "Characterization of single-nucleotide polymorphisms in coding regions of human genes." Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 22:231-238(1999) [PubMed: 10391209] [Abstract] Cited for: VARIANTS ALA-307; ARG-524 AND SER-680. |
| [20] | Erratum Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 23:373-373(1999) |
| [21] | "Distribution and function of FSH receptor genetic variants in normal men." Asatiani K., Gromoll J., Eckardstein S.V., Zitzmann M., Nieschlag E., Simoni M. Andrologia 34:172-176(2002) [PubMed: 12059813] [Abstract] Cited for: VARIANTS ALA-307 AND SER-680. |
| [22] | "A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure." Doherty E., Pakarinen P., Tiitinen A., Kiilavuori A., Huhtaniemi I., Forrest S., Aittomaeki K. J. Clin. Endocrinol. Metab. 87:1151-1155(2002) [PubMed: 11889179] [Abstract] Cited for: VARIANT ODG1 THR-419, CHARACTERIZATION OF VARIANT ODG1 THR-419. |
| [23] | "A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics." Allen L.A., Achermann J.C., Pakarinen P., Kotlar T.J., Huhtaniemi I.T., Jameson J.L., Cheetham T.D., Ball S.G. Hum. Reprod. 18:251-256(2003) [PubMed: 12571157] [Abstract] Cited for: VARIANT ODG1 ARG-348. |
| [24] | "Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies." Meduri G., Touraine P., Beau I., Lahuna O., Desroches A., Vacher-Lavenu M.C., Kuttenn F., Misrahi M. J. Clin. Endocrinol. Metab. 88:3491-3498(2003) [PubMed: 12915623] [Abstract] Cited for: VARIANT ODG1 THR-519, CHARACTERIZATION OF VARIANT ODG1 THR-519. |
| [25] | "A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome." Vasseur C., Rodien P., Beau I., Desroches A., Gerard C., de Poncheville L., Chaplot S., Savagner F., Croue A., Mathieu E., Lahlou N., Descamps P., Misrahi M. N. Engl. J. Med. 349:753-759(2003) [PubMed: 12930927] [Abstract] Cited for: VARIANT OHSS ILE-449. |
| [26] | "Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor." Smits G., Olatunbosun O., Delbaere A., Pierson R., Vassart G., Costagliola S. N. Engl. J. Med. 349:760-766(2003) [PubMed: 12930928] [Abstract] Cited for: VARIANT OHSS ASN-567. |
| [27] | "A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome." Montanelli L., Delbaere A., Di Carlo C., Nappi C., Smits G., Vassart G., Costagliola S. J. Clin. Endocrinol. Metab. 89:1255-1258(2004) [PubMed: 15080154] [Abstract] Cited for: VARIANT OHSS ALA-449, CHARACTERIZATION OF VARIANT OHSS ALA-449. |
| [28] | "Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology." De Leener A., Montanelli L., Van Durme J., Chae H., Smits G., Vassart G., Costagliola S. J. Clin. Endocrinol. Metab. 91:555-562(2006) [PubMed: 16278261] [Abstract] Cited for: VARIANT OHSS THR-545, CHARACTERIZATION OF VARIANT OHSS THR-545. |
| [29] | "Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome." De Leener A., Caltabiano G., Erkan S., Idil M., Vassart G., Pardo L., Costagliola S. Hum. Mutat. 29:91-98(2008) [PubMed: 17721928] [Abstract] Cited for: VARIANT OHSS TYR-128, CHARACTERIZATION OF VARIANT OHSS TYR-128. |
| + | Additional computationally mapped references. |
Web resources
| GRIS Glycoprotein-hormone Receptors Information System |
| GeneReviews |
| SHMPD The Singapore human mutation and polymorphism database |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M65085 mRNA. Translation: AAA52477.1. M95489 mRNA. Translation: AAA52478.1. S59900 mRNA. Translation: AAB26480.1. AY429104 mRNA. Translation: AAR07899.1. AK292562 mRNA. Translation: BAF85251.1. AC007189 Genomic DNA. No translation available. AC079394 Genomic DNA. Translation: AAX93229.1. AC092533 Genomic DNA. Translation: AAX88895.1. BC096831 mRNA. Translation: AAH96831.1. BC118548 mRNA. Translation: AAI18549.1. X68044 mRNA. Translation: CAA48179.1. S73199 Genomic DNA. Translation: AAB32071.1. S73526 Genomic DNA. Translation: AAB32225.1. | |||||||||||||||||||
| IPI | IPI00303575. IPI00328365. | ||||||||||||||||||
| PIR | QRHUFT. I57661. | ||||||||||||||||||
| RefSeq | NP_000136.2. NP_852111.1. | ||||||||||||||||||
| UniGene | Hs.1428 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| SMR | Q53RW2. Positions 52-125. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P23945. 2 interactions. | ||||||||||||||||||
Protein family/group databases | |||||||||||||||||||
| GPCRDB | Search... | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P23945. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | P23945. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000170820. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 2492. | ||||||||||||||||||
| KEGG | hsa:2492. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC02M049101. | ||||||||||||||||||
| H-InvDB | HIX0029905. | ||||||||||||||||||
| HGNC | HGNC:3969. FSHR. | ||||||||||||||||||
| MIM | 136435. gene. 233300. phenotype. 608115. phenotype. | ||||||||||||||||||
| Orphanet | 243. Gonadal dysgenesis, XX type. 64739. Ovarian hyperstimulation syndrome. 619. Premature ovarian failure. | ||||||||||||||||||
| PharmGKB | PA28386. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOGENOM | P23945. | ||||||||||||||||||
| HOVERGEN | P23945. | ||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||
| Reactome | REACT_14797. Signaling by GPCR. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P23945. | ||||||||||||||||||
| Bgee | P23945. | ||||||||||||||||||
| CleanEx | HS_FSHR. | ||||||||||||||||||
| GermOnline | ENSG00000170820. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR000276. 7TM_GPCR_Rhodpsn. IPR002272. FSH_rcpt. IPR017452. GPCR_Rhodpsn_supfam. IPR002131. Gphrmn_rcpt. IPR001611. Leu-rich_rpt. IPR000372. Leu-rich_rpt_Cys-rich-reg_N. [Graphical view] | ||||||||||||||||||
| PANTHER | PTHR23154:SF31. FSH_rcpt. 1 hit. | ||||||||||||||||||
| Pfam | PF00001. 7tm_1. 1 hit. PF00560. LRR_1. 1 hit. PF01462. LRRNT. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR01143. FSHRECEPTOR. PR00373. GLYCHORMONER. PR00237. GPCRRHODOPSN. | ||||||||||||||||||
| SMART | SM00013. LRRNT. 1 hit. [Graphical view] | ||||||||||||||||||
| PROSITE | PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| DrugBank | DB00097. Choriogonadotropin alfa. DB00066. Follitropin beta. DB00032. Menotropins. DB00094. Urofollitropin. | ||||||||||||||||||
| NextBio | 9843. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | FSHR_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23945 Secondary accession number(s): A8K947 Q53RW2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| 7-transmembrane G-linked receptors List of 7-transmembrane G-linked receptor entries |
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


