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P23945

- FSHR_HUMAN

UniProt

P23945 - FSHR_HUMAN

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Protein

Follicle-stimulating hormone receptor

Gene
FSHR, LGR1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. follicle-stimulating hormone receptor activity Source: ProtInc
  2. peptide hormone binding Source: Ensembl
  3. protein binding Source: IntAct

GO - Biological processi

  1. adenylate cyclase-activating G-protein coupled receptor signaling pathway Source: Ensembl
  2. adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway Source: Ensembl
  3. basement membrane organization Source: Ensembl
  4. cellular water homeostasis Source: Ensembl
  5. female gamete generation Source: ProtInc
  6. female gonad development Source: ProtInc
  7. gonad development Source: ProtInc
  8. G-protein coupled receptor signaling pathway Source: ProtInc
  9. locomotory behavior Source: Ensembl
  10. male gonad development Source: UniProtKB
  11. negative regulation of bone resorption Source: Ensembl
  12. neuron projection development Source: Ensembl
  13. phospholipase C-activating G-protein coupled receptor signaling pathway Source: Ensembl
  14. positive regulation of intracellular estrogen receptor signaling pathway Source: Ensembl
  15. primary ovarian follicle growth Source: Ensembl
  16. regulation of acetylcholine metabolic process Source: Ensembl
  17. regulation of chromosome organization Source: Ensembl
  18. regulation of hormone metabolic process Source: Ensembl
  19. regulation of MAPK cascade Source: Ensembl
  20. regulation of osteoclast differentiation Source: Ensembl
  21. regulation of platelet-derived growth factor receptor signaling pathway Source: Ensembl
  22. regulation of protein phosphorylation Source: Ensembl
  23. regulation of systemic arterial blood pressure Source: Ensembl
  24. Sertoli cell development Source: Ensembl
  25. Sertoli cell proliferation Source: Ensembl
  26. spermatogenesis Source: ProtInc
  27. spermatogenesis, exchange of chromosomal proteins Source: Ensembl
  28. transcytosis Source: Ensembl
  29. uterus development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_16942. Hormone ligand-binding receptors.
REACT_19327. G alpha (s) signalling events.
SignaLinkiP23945.

Protein family/group databases

TCDBi9.A.14.1.5. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Follicle-stimulating hormone receptor
Short name:
FSH-R
Alternative name(s):
Follitropin receptor
Gene namesi
Name:FSHR
Synonyms:LGR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:3969. FSHR.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini18 – 366349Extracellular Reviewed predictionAdd
BLAST
Transmembranei367 – 38721Helical; Name=1; Reviewed predictionAdd
BLAST
Topological domaini388 – 39811Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei399 – 42123Helical; Name=2; Reviewed predictionAdd
BLAST
Topological domaini422 – 44322Extracellular Reviewed predictionAdd
BLAST
Transmembranei444 – 46522Helical; Name=3; Reviewed predictionAdd
BLAST
Topological domaini466 – 48520Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei486 – 50823Helical; Name=4; Reviewed predictionAdd
BLAST
Topological domaini509 – 52820Extracellular Reviewed predictionAdd
BLAST
Transmembranei529 – 55022Helical; Name=5; Reviewed predictionAdd
BLAST
Topological domaini551 – 57323Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei574 – 59724Helical; Name=6; Reviewed predictionAdd
BLAST
Topological domaini598 – 60811Extracellular Reviewed predictionAdd
BLAST
Transmembranei609 – 63022Helical; Name=7; Reviewed predictionAdd
BLAST
Topological domaini631 – 69565Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cell surface Source: Ensembl
  2. endosome Source: Ensembl
  3. integral component of membrane Source: ProtInc
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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).
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601I → T in ODG1; impairs cell surface expression. 1 Publication
VAR_018045
Natural varianti189 – 1891A → V in ODG1; very frequent in the Finnish population. 2 Publications
VAR_018046
Natural varianti224 – 2241D → V in ODG1; FSH binding is barely detectable; impaired targeting to the cell membrane; adenylate cyclase stimulation by FSH is 4 +-2% residual activity. 1 Publication
VAR_039280
Natural varianti348 – 3481P → R in ODG1. 1 Publication
VAR_039281
Natural varianti419 – 4191A → T in ODG1. 1 Publication
VAR_018047
Natural varianti519 – 5191P → T in ODG1; totally impairs adenylate cyclase stimulation in vitro; alters the cell surface targeting of the receptor which remains trapped intracellularly. 1 Publication
VAR_039283
Natural varianti573 – 5731R → C in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity. 2 Publications
VAR_018048
Natural varianti601 – 6011L → V in ODG1; binds FSH with a similar affinity than the wild-type receptor; adenylate cyclase stimulation by FSH is 12 +-3% residual activity. 1 Publication
VAR_039286
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281S → Y in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH. 1 Publication
VAR_039279
Natural varianti449 – 4491T → A in OHSS; increase of receptor sensitivity to both hCG and TSH together with an increase in basal activity. 1 Publication
VAR_039282
Natural varianti449 – 4491T → I in OHSS. 1 Publication
Corresponds to variant rs28928870 [ dbSNP | Ensembl ].
VAR_017244
Natural varianti545 – 5451I → T in OHSS; displays promiscuous activation by both hCG and TSH together with detectable constitutive activity. 1 Publication
VAR_039284
Natural varianti567 – 5671D → N in OHSS. 1 Publication
Corresponds to variant rs28928871 [ dbSNP | Ensembl ].
VAR_017245

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi233300. phenotype.
608115. phenotype.
Orphaneti243. 46,XX gonadal dysgenesis.
64739. Ovarian hyperstimulation syndrome.
619. Primary ovarian failure.
PharmGKBiPA28386.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717 Reviewed predictionAdd
BLAST
Chaini18 – 695678Follicle-stimulating hormone receptorPRO_0000012771Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi18 ↔ 251 Publication
Disulfide bondi23 ↔ 321 Publication
Glycosylationi191 – 1911N-linked (GlcNAc...)1 Publication
Glycosylationi199 – 1991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi293 – 2931N-linked (GlcNAc...) By similarity
Glycosylationi318 – 3181N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi442 ↔ 517 By similarity

Post-translational modificationi

N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone By similarity.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP23945.
PRIDEiP23945.

PTM databases

PhosphoSiteiP23945.

Expressioni

Tissue specificityi

Sertoli cells and ovarian granulosa cells.

Gene expression databases

ArrayExpressiP23945.
BgeeiP23945.
CleanExiHS_FSHR.
GenevestigatoriP23945.

Interactioni

Subunit structurei

Interacts with ARRB2 By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
YWHAQP273484EBI-848239,EBI-359854

Protein-protein interaction databases

BioGridi108770. 15 interactions.
DIPiDIP-35605N.
IntActiP23945. 2 interactions.
MINTiMINT-1177926.
STRINGi9606.ENSP00000384708.

Structurei

Secondary structure

1
695
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi21 – 266
Beta strandi29 – 346
Beta strandi49 – 557
Beta strandi59 – 613
Turni63 – 686
Beta strandi74 – 785
Turni88 – 903
Beta strandi99 – 1057
Beta strandi115 – 1173
Beta strandi124 – 1307
Beta strandi143 – 1453
Beta strandi147 – 1537
Beta strandi168 – 1714
Beta strandi173 – 1764
Turni187 – 1926
Beta strandi193 – 1997
Turni211 – 2166
Beta strandi221 – 2244
Beta strandi235 – 2373
Beta strandi243 – 2453
Turni258 – 2603
Beta strandi266 – 2683
Helixi272 – 2809
Beta strandi345 – 3484
Beta strandi351 – 3533

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1XUNmodel-A49-228[»]
1XWDX-ray2.92C/F17-268[»]
4AY9X-ray2.50X/Y/Z17-366[»]
4MQWX-ray2.90X/Y/Z16-366[»]
ProteinModelPortaliP23945.
SMRiP23945. Positions 18-359, 368-637.

Miscellaneous databases

EvolutionaryTraceiP23945.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 4629LRRNTAdd
BLAST
Repeati49 – 7224LRR 1Add
BLAST
Repeati73 – 9725LRR 2Add
BLAST
Repeati98 – 11821LRR 3Add
BLAST
Repeati119 – 14325LRR 4Add
BLAST
Repeati144 – 16926LRR 5Add
BLAST
Repeati170 – 19223LRR 6Add
BLAST
Repeati193 – 21624LRR 7Add
BLAST
Repeati217 – 24024LRR 8Add
BLAST
Repeati241 – 25919LRR 9Add
BLAST

Sequence similaritiesi

Contains 1 LRRNT domain.

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG285844.
HOGENOMiHOG000045902.
HOVERGENiHBG003521.
InParanoidiP23945.
KOiK04247.
PhylomeDBiP23945.
TreeFamiTF316814.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR002272. FSH_rcpt.
IPR024635. GnHR_TM.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR002131. Gphrmn_rcpt_fam.
IPR001611. Leu-rich_rpt.
IPR000372. LRR-contain_N.
[Graphical view]
PANTHERiPTHR24372. PTHR24372. 1 hit.
PTHR24372:SF5. PTHR24372:SF5. 1 hit.
PfamiPF00001. 7tm_1. 1 hit.
PF12369. GnHR_trans. 1 hit.
PF13855. LRR_8. 2 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
PRINTSiPR01143. FSHRECEPTOR.
PR00373. GLYCHORMONER.
PR00237. GPCRRHODOPSN.
SMARTiSM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform Long (identifier: P23945-1) [UniParc]FASTAAdd to Basket

Also known as: R1

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.

« Hide

MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE    50
LRFVLTKLRV IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI 100
RIEKANNLLY INPEAFQNLP NLQYLLISNT GIKHLPDVHK IHSLQKVLLD 150
IQDNINIHTI ERNSFVGLSF ESVILWLNKN GIQEIHNCAF NGTQLDELNL 200
SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN LKKLRARSTY 250
NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE 300
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP 350
DAFNPCEDIM GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL 400
MCNLAFADLC IGIYLLLIAS VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV 450
FASELSVYTL TAITLERWHT ITHAMQLDCK VQLRHAASVM VMGWIFAFAA 500
ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL AFVVICGCYI 550
HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP 600
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ 650
AQIYRTETSS TVHNTHPRNG HCSSAPRVTN GSTYILVPLS HLAQN 695
Length:695
Mass (Da):78,265
Last modified:November 2, 2010 - v3
Checksum:i766BC421014CD5A4
GO
Isoform Short (identifier: P23945-2) [UniParc]FASTAAdd to Basket

Also known as: E9Del

The sequence of this isoform differs from the canonical sequence as follows:
     224-285: Missing.

Show »
Length:633
Mass (Da):71,079
Checksum:iAEB5E6DE7905AD41
GO
Isoform 3 (identifier: P23945-3) [UniParc]FASTAAdd to Basket

Also known as: E6Del

The sequence of this isoform differs from the canonical sequence as follows:
     149-174: Missing.

Show »
Length:669
Mass (Da):75,309
Checksum:i13EBEE0CB4E1EEB9
GO
Isoform 4 (identifier: P23945-4) [UniParc]FASTAAdd to Basket

Also known as: E8'Inc

The sequence of this isoform differs from the canonical sequence as follows:
     223-223: L → LNRRTRTPTEPNVLLAKYPSGQGVLEEPESLSSSI

Show »
Length:729
Mass (Da):81,974
Checksum:i4C3BE97328EE2E34
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281S → Y in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH. 1 Publication
VAR_039279
Natural varianti160 – 1601I → T in ODG1; impairs cell surface expression. 1 Publication
VAR_018045
Natural varianti189 – 1891A → V in ODG1; very frequent in the Finnish population. 2 Publications
VAR_018046
Natural varianti224 – 2241D → V in ODG1; FSH binding is barely detectable; impaired targeting to the cell membrane; adenylate cyclase stimulation by FSH is 4 +-2% residual activity. 1 Publication
VAR_039280
Natural varianti307 – 3071A → T.9 Publications
Corresponds to variant rs6165 [ dbSNP | Ensembl ].
VAR_013903
Natural varianti348 – 3481P → R in ODG1. 1 Publication
VAR_039281
Natural varianti419 – 4191A → T in ODG1. 1 Publication
VAR_018047
Natural varianti449 – 4491T → A in OHSS; increase of receptor sensitivity to both hCG and TSH together with an increase in basal activity. 1 Publication
VAR_039282
Natural varianti449 – 4491T → I in OHSS. 1 Publication
Corresponds to variant rs28928870 [ dbSNP | Ensembl ].
VAR_017244
Natural varianti519 – 5191P → T in ODG1; totally impairs adenylate cyclase stimulation in vitro; alters the cell surface targeting of the receptor which remains trapped intracellularly. 1 Publication
VAR_039283
Natural varianti524 – 5241S → R.1 Publication
Corresponds to variant rs6167 [ dbSNP | Ensembl ].
VAR_013904
Natural varianti545 – 5451I → T in OHSS; displays promiscuous activation by both hCG and TSH together with detectable constitutive activity. 1 Publication
VAR_039284
Natural varianti567 – 5671D → 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. 1 Publication
VAR_039285
Natural varianti567 – 5671D → N in OHSS. 1 Publication
Corresponds to variant rs28928871 [ dbSNP | Ensembl ].
VAR_017245
Natural varianti573 – 5731R → C in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity. 2 Publications
VAR_018048
Natural varianti591 – 5911F → S in ovarian sex cord tumor; loss of function. 1 Publication
VAR_018049
Natural varianti601 – 6011L → V in ODG1; binds FSH with a similar affinity than the wild-type receptor; adenylate cyclase stimulation by FSH is 12 +-3% residual activity. 1 Publication
VAR_039286
Natural varianti680 – 6801N → S Associated with longer menstrual cycles. 7 Publications
Corresponds to variant rs6166 [ dbSNP | Ensembl ].
VAR_013905

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei149 – 17426Missing in isoform 3. VSP_043181Add
BLAST
Alternative sequencei223 – 2231L → LNRRTRTPTEPNVLLAKYPS GQGVLEEPESLSSSI in isoform 4. VSP_053411
Alternative sequencei224 – 28562Missing in isoform Short. VSP_001953Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131S → R in CAA48179. 1 Publication
Sequence conflicti112 – 1121N → T in AAA52477. 1 Publication
Sequence conflicti197 – 1982EL → AV in AAA52477. 1 Publication
Sequence conflicti295 – 2951S → P in CAA48179. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M65085 mRNA. Translation: AAA52477.1.
M95489 mRNA. Translation: AAA52478.1.
S59900 mRNA. Translation: AAB26480.1.
JN003607 mRNA. Translation: AEI86722.1.
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.
CH471053 Genomic DNA. Translation: EAX00188.1.
CH471053 Genomic DNA. Translation: EAX00189.1.
BC096831 mRNA. Translation: AAH96831.1.
BC118548 mRNA. Translation: AAI18549.1.
BC125270 mRNA. Translation: AAI25271.1.
X68044 mRNA. Translation: CAA48179.1.
S73199 Genomic DNA. Translation: AAB32071.1.
S73526 Genomic DNA. Translation: AAB32225.1.
CCDSiCCDS1843.1. [P23945-1]
CCDS1844.2. [P23945-3]
PIRiI57661. QRHUFT.
RefSeqiNP_000136.2. NM_000145.3.
NP_852111.2. NM_181446.2.
UniGeneiHs.1428.

Genome annotation databases

EnsembliENST00000304421; ENSP00000306780; ENSG00000170820.
GeneIDi2492.
KEGGihsa:2492.
UCSCiuc002rww.3. human.
uc002rwx.3. human.
uc010fbn.3. human. [P23945-3]

Polymorphism databases

DMDMi311033420.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GRIS

Glycoprotein-hormone Receptors Information System

SHMPD

The Singapore human mutation and polymorphism database

Sequence-structure-function-analysis of glycoprotein hormone receptors

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M65085 mRNA. Translation: AAA52477.1 .
M95489 mRNA. Translation: AAA52478.1 .
S59900 mRNA. Translation: AAB26480.1 .
JN003607 mRNA. Translation: AEI86722.1 .
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 .
CH471053 Genomic DNA. Translation: EAX00188.1 .
CH471053 Genomic DNA. Translation: EAX00189.1 .
BC096831 mRNA. Translation: AAH96831.1 .
BC118548 mRNA. Translation: AAI18549.1 .
BC125270 mRNA. Translation: AAI25271.1 .
X68044 mRNA. Translation: CAA48179.1 .
S73199 Genomic DNA. Translation: AAB32071.1 .
S73526 Genomic DNA. Translation: AAB32225.1 .
CCDSi CCDS1843.1. [P23945-1 ]
CCDS1844.2. [P23945-3 ]
PIRi I57661. QRHUFT.
RefSeqi NP_000136.2. NM_000145.3.
NP_852111.2. NM_181446.2.
UniGenei Hs.1428.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1XUN model - A 49-228 [» ]
1XWD X-ray 2.92 C/F 17-268 [» ]
4AY9 X-ray 2.50 X/Y/Z 17-366 [» ]
4MQW X-ray 2.90 X/Y/Z 16-366 [» ]
ProteinModelPortali P23945.
SMRi P23945. Positions 18-359, 368-637.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108770. 15 interactions.
DIPi DIP-35605N.
IntActi P23945. 2 interactions.
MINTi MINT-1177926.
STRINGi 9606.ENSP00000384708.

Chemistry

BindingDBi P23945.
ChEMBLi CHEMBL2024.
DrugBanki DB00097. Choriogonadotropin alfa.
DB00066. Follitropin beta.
DB00032. Menotropins.
DB00094. Urofollitropin.
GuidetoPHARMACOLOGYi 253.

Protein family/group databases

TCDBi 9.A.14.1.5. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

PTM databases

PhosphoSitei P23945.

Polymorphism databases

DMDMi 311033420.

Proteomic databases

PaxDbi P23945.
PRIDEi P23945.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000304421 ; ENSP00000306780 ; ENSG00000170820 .
GeneIDi 2492.
KEGGi hsa:2492.
UCSCi uc002rww.3. human.
uc002rwx.3. human.
uc010fbn.3. human. [P23945-3 ]

Organism-specific databases

CTDi 2492.
GeneCardsi GC02M049189.
H-InvDB HIX0029905.
HGNCi HGNC:3969. FSHR.
MIMi 136435. gene.
233300. phenotype.
608115. phenotype.
neXtProti NX_P23945.
Orphaneti 243. 46,XX gonadal dysgenesis.
64739. Ovarian hyperstimulation syndrome.
619. Primary ovarian failure.
PharmGKBi PA28386.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG285844.
HOGENOMi HOG000045902.
HOVERGENi HBG003521.
InParanoidi P23945.
KOi K04247.
PhylomeDBi P23945.
TreeFami TF316814.

Enzyme and pathway databases

Reactomei REACT_16942. Hormone ligand-binding receptors.
REACT_19327. G alpha (s) signalling events.
SignaLinki P23945.

Miscellaneous databases

EvolutionaryTracei P23945.
GeneWikii Follicle-stimulating_hormone_receptor.
GenomeRNAii 2492.
NextBioi 35518027.
PROi P23945.
SOURCEi Search...

Gene expression databases

ArrayExpressi P23945.
Bgeei P23945.
CleanExi HS_FSHR.
Genevestigatori P23945.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR002272. FSH_rcpt.
IPR024635. GnHR_TM.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR002131. Gphrmn_rcpt_fam.
IPR001611. Leu-rich_rpt.
IPR000372. LRR-contain_N.
[Graphical view ]
PANTHERi PTHR24372. PTHR24372. 1 hit.
PTHR24372:SF5. PTHR24372:SF5. 1 hit.
Pfami PF00001. 7tm_1. 1 hit.
PF12369. GnHR_trans. 1 hit.
PF13855. LRR_8. 2 hits.
PF01462. LRRNT. 1 hit.
[Graphical view ]
PRINTSi PR01143. FSHRECEPTOR.
PR00373. GLYCHORMONER.
PR00237. GPCRRHODOPSN.
SMARTi SM00013. LRRNT. 1 hit.
[Graphical view ]
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

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  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT THR-307.
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT THR-307.
    Tissue: Testis.
  4. "FSHR expression in adipose tissue."
    Liu X., Huang H., Sheng J.
    Submitted (MAY-2011) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
    Tissue: Adipose tissue.
  5. "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] (ISOFORM LONG), VARIANT THR-307.
    Tissue: Testis.
  6. "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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG), VARIANT THR-307.
    Tissue: Testis.
  7. "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.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-680.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-680.
  9. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LONG AND 3), VARIANTS THR-307 AND SER-680.
  10. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-342 (ISOFORM SHORT), VARIANT THR-307.
    Tissue: Testis.
  11. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-51.
  12. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 286-695, VARIANTS THR-307 AND SER-680.
  13. "Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men."
    Song G.J., Park Y.S., Lee Y.S., Lee C.C., Kang I.S.
    Fertil. Steril. 77:499-504(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORM 4).
  14. "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] [Europe PMC] [Abstract]
    Cited for: 3D-STRUCTURE MODELING OF 49-228.
  15. "Structure of human follicle-stimulating hormone in complex with its receptor."
    Fan Q.R., Hendrickson W.A.
    Nature 433:269-277(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.92 ANGSTROMS) OF 17-268 IN COMPLEX WITH FSHA AND FSHB, DISULFIDE BONDS, GLYCOSYLATION AT ASN-191.
  16. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT ODG1 VAL-189.
  17. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT OVARIAN SEX CORD TUMOR SER-591.
  18. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT FSHR ACTIVATION GLY-567, CHARACTERIZATION OF VARIANT FSHR ACTIVATION GLY-567.
  19. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT ODG1 VAL-189.
  20. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODG1 THR-160 AND CYS-573.
  21. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODG1 VAL-224 AND VAL-601, CHARACTERIZATION OF VARIANTS ODG1 VAL-224; CYS-573 AND VAL-601.
  22. Cited for: VARIANTS THR-307; ARG-524 AND SER-680.
  23. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS THR-307 AND SER-680.
  24. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT ODG1 THR-419, CHARACTERIZATION OF VARIANT ODG1 THR-419.
  25. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT ODG1 ARG-348.
  26. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT ODG1 THR-519, CHARACTERIZATION OF VARIANT ODG1 THR-519.
  27. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT OHSS ILE-449.
  28. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT OHSS ASN-567.
  29. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT OHSS ALA-449, CHARACTERIZATION OF VARIANT OHSS ALA-449.
  30. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT OHSS THR-545, CHARACTERIZATION OF VARIANT OHSS THR-545.
  31. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT OHSS TYR-128, CHARACTERIZATION OF VARIANT OHSS TYR-128.

Entry informationi

Entry nameiFSHR_HUMAN
AccessioniPrimary (citable) accession number: P23945
Secondary accession number(s): A8K947
, G5CBS7, G5E967, J3KQ00, Q05AH0, Q16225, Q4QRJ3, Q4ZFZ2, Q53RW2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: November 2, 2010
Last modified: September 3, 2014
This is version 169 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

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