ID FSHR_HUMAN STANDARD; PRT; 695 AA. AC P23945; DT 01-MAR-1992 (Rel. 21, Created) DT 01-JUN-1994 (Rel. 29, Last sequence update) DT 28-FEB-2003 (Rel. 41, Last annotation update) DE Follicle stimulating hormone receptor precursor (FSH-R) (Follitropin DE receptor). GN FSHR. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A., AND VARIANTS ALA-307 AND SER-680. RC TISSUE=Ovary; RX MEDLINE=91222171; PubMed=1709010; RA Minegish T., Nakamura K., Takakura Y., Ibuki Y., Igarashi M.; RT "Cloning and sequencing of human FSH receptor cDNA."; RL Biochem. Biophys. Res. Commun. 175:1125-1130(1991). RN [2] RP SEQUENCE FROM N.A. RC TISSUE=Testis; RX MEDLINE=93246012; PubMed=1301382; RA Kelton C.A., Cheng S.V., Nugent N.P., Schweickhardt R.L., RA Rosenthal J.L., Overton S.A., Wands G.D., Kuzeja J.B., Luchette C.A., RA Chappel S.C.; RT "The cloning of the human follicle stimulating hormone receptor and RT its expression in COS-7, CHO, and Y-1 cells."; RL Mol. Cell. Endocrinol. 89:141-151(1992). RN [3] RP SEQUENCE FROM N.A. RA Tilly L.T., Aihara T., Nishimori K., Jai X.-C., Billig H., RA Kowalski K.I., Perlas E.A., Hsueh A.J.; RL Submitted (XXX-1992) to the EMBL/GenBank/DDBJ databases. RN [4] RP SEQUENCE OF 1-342 FROM N.A. RC TISSUE=Testis; RX MEDLINE=93075197; PubMed=1359889; RA Gromoll J., Gudermann T., Nieschlag E.; RT "Molecular cloning of a truncated isoform of the human follicle RT stimulating hormone receptor."; RL Biochem. Biophys. Res. Commun. 188:1077-1083(1992). RN [5] RP SEQUENCE OF 1-51 FROM N.A. RX MEDLINE=95011044; PubMed=7926278; RA Gromoll J., Dankbar B., Gudermann T.; RT "Characterization of the 5' flanking region of the human follicle- RT stimulating hormone receptor gene."; RL Mol. Cell. Endocrinol. 102:93-102(1994). RN [6] RP 3D-STRUCTURE MODELING OF 49-228. RX MEDLINE=96363672; PubMed=8747461; RA Jiang X., Dreano M., Buckler D.R., Cheng S., Ythier A., Wu H., RA Hendrickson W.A., el Tayar N.; RT "Structural predictions for the ligand-binding region of glycoprotein RT hormone receptors and the nature of hormone-receptor interactions."; RL Structure 3:1341-1353(1995). RN [7] RP VARIANTS ALA-307; ARG-524 AND SER-680. RX MEDLINE=99318093; PubMed=10391209; RA Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., RA Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., RA Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., RA Lander E.S.; RT "Characterization of single-nucleotide polymorphisms in coding regions RT of human genes."; RL Nat. Genet. 22:231-238(1999). RN [8] RP ERRATUM. RA Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., RA Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., RA Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., RA Lander E.S.; RL Nat. Genet. 23:373-373(1999). RN [9] RP VARIANTS ALA-307 AND SER-680. RX MEDLINE=22054685; PubMed=12059813; RA Asatiani K., Gromoll J., Eckardstein S.V., Zitzmann M., Nieschlag E., RA Simoni M.; RT "Distribution and function of FSH receptor genetic variants in normal RT men."; RL Andrologia 34:172-176(2002). CC -!- FUNCTION: Receptor for follicle stimulating hormone. The activity CC of this receptor is mediated by G proteins which activate CC adenylate cyclase. CC -!- SUBCELLULAR LOCATION: Integral membrane protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=Long; CC IsoId=P23945-1; Sequence=Displayed; CC Name=Short; CC IsoId=P23945-2; Sequence=VSP_001953, VSP_001954; CC -!- TISSUE SPECIFICITY: Sertoli cells and ovarian granulosa cells. CC -!- SIMILARITY: Belongs to family 1 of G-protein coupled receptors. CC FSH/LSH/TSH SUBFAMILY. CC -!- SIMILARITY: Contains 5 leucine-rich (LRR) repeats. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M65085; AAA52477.1; -. DR EMBL; S59900; AAB26480.1; -. DR EMBL; M95489; AAA52478.1; -. DR EMBL; X68044; CAA48179.1; -. DR EMBL; S73199; AAB32071.1; -. DR PIR; I57661; QRHUFT. DR PDB; 1XUN; 15-MAY-97. DR Genew; HGNC:3969; FSHR. DR MIM; 136435; -. DR GO; GO:0016021; C:integral to membrane; TAS. DR GO; GO:0005886; C:plasma membrane; TAS. DR GO; GO:0004963; F:follicle stimulating hormone receptor activity; TAS. DR GO; GO:0008585; P:female gonad development; TAS. DR GO; GO:0007186; P:G-protein coupled receptor protein signalin...; TAS. DR GO; GO:0007292; P:oogenesis; TAS. DR GO; GO:0007283; P:spermatogenesis; TAS. DR InterPro; IPR000276; GPCR_Rhodpsn. DR InterPro; IPR001611; LRR. DR InterPro; IPR000372; LRR_Nterm. DR Pfam; PF00001; 7tm_1; 1. DR Pfam; PF00560; LRR; 3. DR Pfam; PF01462; LRRNT; 1. DR PRINTS; PR00237; GPCRRHODOPSN. DR SMART; SM00013; LRRNT; 1. DR PROSITE; PS00237; G_PROTEIN_RECEP_F1_1; 1. DR PROSITE; PS50262; G_PROTEIN_RECEP_F1_2; 1. KW G-protein coupled receptor; Transmembrane; Glycoprotein; Signal; KW Phosphorylation; Repeat; Leucine-rich repeat; Alternative splicing; KW 3D-structure; Polymorphism. FT SIGNAL 1 17 POTENTIAL. FT CHAIN 18 695 FOLLICLE STIMULATING HORMONE RECEPTOR. FT DOMAIN 18 366 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 367 387 1 (POTENTIAL). FT DOMAIN 388 398 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 399 421 2 (POTENTIAL). FT DOMAIN 422 443 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 444 465 3 (POTENTIAL). FT DOMAIN 466 485 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 486 508 4 (POTENTIAL). FT DOMAIN 509 528 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 529 550 5 (POTENTIAL). FT DOMAIN 551 573 CYTOPLASMIC (POTENTIAL). FT TRANSMEM 574 597 6 (POTENTIAL). FT DOMAIN 598 608 EXTRACELLULAR (POTENTIAL). FT TRANSMEM 609 630 7 (POTENTIAL). FT DOMAIN 631 695 CYTOPLASMIC (POTENTIAL). FT REPEAT 69 93 LRR 1. FT REPEAT 119 143 LRR 2. FT REPEAT 170 192 LRR 3. FT REPEAT 193 216 LRR 4. FT REPEAT 218 240 LRR 5. FT DISULFID 442 517 BY SIMILARITY. FT CARBOHYD 191 191 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 199 199 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 293 293 N-LINKED (GLCNAC...) (POTENTIAL). FT CARBOHYD 318 318 N-LINKED (GLCNAC...) (POTENTIAL). FT VARSPLIC 224 285 Missing (in isoform Short). FT /FTId=VSP_001953. FT VARSPLIC 342 695 Missing (in isoform Short). FT /FTId=VSP_001954. FT VARIANT 307 307 T -> A (in dbSNP:6165). FT /FTId=VAR_013903. FT VARIANT 524 524 S -> R (in dbSNP:6167). FT /FTId=VAR_013904. FT VARIANT 680 680 N -> S (in dbSNP:6166). FT /FTId=VAR_013905. FT CONFLICT 13 13 S -> R (IN REF. 4). FT CONFLICT 112 112 N -> T (IN REF. 1). FT CONFLICT 197 198 EL -> AV (IN REF. 1). FT CONFLICT 295 295 S -> P (IN REF. 4). FT STRAND 50 52 FT TURN 54 55 FT TURN 59 67 FT STRAND 74 76 FT TURN 78 79 FT TURN 91 93 FT STRAND 99 101 FT TURN 108 110 FT HELIX 113 116 FT TURN 117 117 FT STRAND 124 126 FT HELIX 135 139 FT STRAND 148 150 FT TURN 152 153 FT TURN 155 159 FT HELIX 163 165 FT TURN 166 166 FT STRAND 174 176 FT TURN 178 179 FT TURN 185 191 FT STRAND 197 199 FT TURN 204 208 FT HELIX 212 214 FT TURN 215 216 FT STRAND 222 224 FT TURN 226 227 SQ SEQUENCE 695 AA; 78294 MW; 723B8E71F76D2CD5 CRC64; MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE VDYMTQTRGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS TVHNTHPRNG HCSSAPRVTN GSTYILVPLS HLAQN //