##gff-version 3 P22888 UniProtKB Signal peptide 1 26 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Chain 27 699 . . . ID=PRO_0000012780;Note=Lutropin-choriogonadotropic hormone receptor P22888 UniProtKB Topological domain 27 363 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 364 385 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 386 395 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 396 416 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 417 439 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 440 462 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 463 482 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 483 505 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 506 525 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 526 549 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 550 570 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 571 594 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 595 605 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Transmembrane 606 627 . . . Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Topological domain 628 699 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Domain 27 66 . . . Note=LRRNT P22888 UniProtKB Repeat 96 115 . . . Note=LRR 1 P22888 UniProtKB Repeat 124 145 . . . Note=LRR 2 P22888 UniProtKB Repeat 149 171 . . . Note=LRR 3 P22888 UniProtKB Repeat 175 196 . . . Note=LRR 4 P22888 UniProtKB Repeat 198 220 . . . Note=LRR 5 P22888 UniProtKB Repeat 223 244 . . . Note=LRR 6 P22888 UniProtKB Modified residue 331 331 . . . Note=Sulfotyrosine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11847099;Dbxref=PMID:11847099 P22888 UniProtKB Lipidation 643 643 . . . Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15539429;Dbxref=PMID:15539429 P22888 UniProtKB Lipidation 644 644 . . . Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15539429;Dbxref=PMID:15539429 P22888 UniProtKB Glycosylation 99 99 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Glycosylation 174 174 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Glycosylation 195 195 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Glycosylation 291 291 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Glycosylation 299 299 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Glycosylation 313 313 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22888 UniProtKB Disulfide bond 439 514 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00521 P22888 UniProtKB Alternative sequence 227 289 . . . ID=VSP_001962;Note=In isoform Short. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Natural variant 18 18 . . . ID=VAR_003549;Note=Q->QLQ;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9851790,ECO:0000269|PubMed:9858858;Dbxref=PMID:9851790,PMID:9858858 P22888 UniProtKB Natural variant 131 131 . . . ID=VAR_010154;Note=In LHR%3B Leydig cell hypoplasia type 2. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9215288;Dbxref=dbSNP:rs121912527,PMID:9215288 P22888 UniProtKB Natural variant 144 144 . . . ID=VAR_062336;Note=In LHR%3B Leydig cell hypoplasia type 1%3B exhibits a marked impairment of human chorionic gonadotropin binding%3B shows the absence of the glycosylated cell surface form%3B the mutant receptor is retained in the endoplasmic reticulum%3B mutant receptors do not migrate to the cell surface. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15472221;Dbxref=dbSNP:rs121912539,PMID:15472221 P22888 UniProtKB Natural variant 152 152 . . . ID=VAR_062337;Note=In LHR%3B reveals a marked impairment of human chorionic gonadotropin binding and signal transduction. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19551906;Dbxref=PMID:19551906 P22888 UniProtKB Natural variant 284 284 . . . ID=VAR_003550;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10215412;Dbxref=PMID:10215412 P22888 UniProtKB Natural variant 291 291 . . . ID=VAR_055922;Note=N->S;Dbxref=dbSNP:rs12470652 P22888 UniProtKB Natural variant 306 306 . . . ID=VAR_003551;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10215412;Dbxref=PMID:10215412 P22888 UniProtKB Natural variant 312 312 . . . ID=VAR_060737;Note=N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2244890,ECO:0000269|PubMed:7556872;Dbxref=dbSNP:rs2293275,PMID:2244890,PMID:7556872 P22888 UniProtKB Natural variant 343 343 . . . ID=VAR_010155;Note=In LHR%3B Leydig cell hypoplasia type 1%3B completely devoided of hormone-induced cAMP reporter gene activation%3B although initial translocation to the endoplasmic reticulum is normal translocation is halted or misrouted and the mutant does not reach the cell surface and cannot bind hormone. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12050206;Dbxref=dbSNP:rs121912536,PMID:12050206 P22888 UniProtKB Natural variant 354 354 . . . ID=VAR_003552;Note=In LHR%3B Leydig cell hypoplasia type 1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9626144;Dbxref=dbSNP:rs121912529,PMID:9626144 P22888 UniProtKB Natural variant 368 368 . . . ID=VAR_062338;Note=In FMPP%3B cells expressing the mutation display up to a 12-fold increase in basal cAMP production compared with cells expressing the same number of cell surface wild-type receptor indicating constitutive activation of the mutant receptor. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11134146;Dbxref=dbSNP:rs121912533,PMID:11134146 P22888 UniProtKB Natural variant 373 373 . . . ID=VAR_003553;Note=In FMPP. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9467560;Dbxref=dbSNP:rs121912528,PMID:9467560 P22888 UniProtKB Natural variant 398 398 . . . ID=VAR_003554;Note=In FMPP. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8929952;Dbxref=dbSNP:rs121912526,PMID:8929952 P22888 UniProtKB Natural variant 457 457 . . . ID=VAR_010156;Note=In FMPP. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9661624;Dbxref=dbSNP:rs121912535,PMID:9661624 P22888 UniProtKB Natural variant 502 502 . . . ID=VAR_062339;Note=In LHR%3B Leydig cell hypoplasia type 1%3B shows reduced cAMP production and ligand binding%3B receptor trafficking is not affected by the mutation. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15372531;Dbxref=dbSNP:rs121912538,PMID:15372531 P22888 UniProtKB Natural variant 542 542 . . . ID=VAR_010157;Note=In FMPP. I->L;Dbxref=dbSNP:rs121912531 P22888 UniProtKB Natural variant 543 543 . . . ID=VAR_010158;Note=In LHR%3B Leydig cell hypoplasia type 1%3B completely devoided of hormone-induced cAMP reporter gene activation%3B although initial translocation to the endoplasmic reticulum is normal translocation is halted or misrouted and the mutant does not reach the cell surface and cannot bind hormone. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12050206;Dbxref=dbSNP:rs121912537,PMID:12050206 P22888 UniProtKB Natural variant 564 564 . . . ID=VAR_010159;Note=In FMPP. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11391350;Dbxref=dbSNP:rs121912540,PMID:11391350 P22888 UniProtKB Natural variant 564 564 . . . ID=VAR_035764;Note=In a breast cancer sample%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 P22888 UniProtKB Natural variant 568 568 . . . ID=VAR_003555;Note=In FMPP. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11134146,ECO:0000269|PubMed:7629248;Dbxref=dbSNP:rs121912534,PMID:11134146,PMID:7629248 P22888 UniProtKB Natural variant 571 571 . . . ID=VAR_003556;Note=In FMPP. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8281137;Dbxref=dbSNP:rs121912519,PMID:8281137 P22888 UniProtKB Natural variant 572 572 . . . ID=VAR_003557;Note=In FMPP. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7714085;Dbxref=dbSNP:rs121912522,PMID:7714085 P22888 UniProtKB Natural variant 575 575 . . . ID=VAR_010160;Note=In FMPP. I->L;Dbxref=dbSNP:rs767343825 P22888 UniProtKB Natural variant 577 577 . . . ID=VAR_003558;Note=In FMPP. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7757065,ECO:0000269|PubMed:8829636;Dbxref=dbSNP:rs121912521,PMID:7757065,PMID:8829636 P22888 UniProtKB Natural variant 578 578 . . . ID=VAR_010161;Note=In FMPP. D->E P22888 UniProtKB Natural variant 578 578 . . . ID=VAR_003559;Note=In FMPP. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7692306,ECO:0000269|PubMed:8281137;Dbxref=dbSNP:rs121912518,PMID:7692306,PMID:8281137 P22888 UniProtKB Natural variant 578 578 . . . ID=VAR_010162;Note=In Leydig cell tumor%3B somatic mutation%3B causes receptor activation and precocious puberty. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10580072;Dbxref=dbSNP:rs121912532,PMID:10580072 P22888 UniProtKB Natural variant 578 578 . . . ID=VAR_010163;Note=In FMPP. D->Y;Dbxref=dbSNP:rs121912532 P22888 UniProtKB Natural variant 581 581 . . . ID=VAR_010164;Note=In FMPP. C->R P22888 UniProtKB Natural variant 593 593 . . . ID=VAR_003560;Note=In LHR%3B Leydig cell hypoplasia type 1%3B abolishes signal transduction. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7719343;Dbxref=dbSNP:rs121912520,PMID:7719343 P22888 UniProtKB Natural variant 608 609 . . . ID=VAR_003561;Note=In LHR%3B Leydig cell hypoplasia type 1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9514160;Dbxref=PMID:9514160 P22888 UniProtKB Natural variant 616 616 . . . ID=VAR_003562;Note=In LHR%3B Leydig cell hypoplasia type 1%3B micropenis. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8559204;Dbxref=dbSNP:rs121912525,PMID:8559204 P22888 UniProtKB Natural variant 625 625 . . . ID=VAR_003563;Note=In LHR%3B Leydig cell hypoplasia type 2. I->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9626653;Dbxref=dbSNP:rs121912530,PMID:9626653 P22888 UniProtKB Mutagenesis 331 331 . . . Note=Reduces intracellular cAMP accumulation. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11847099;Dbxref=PMID:11847099 P22888 UniProtKB Mutagenesis 333 333 . . . Note=No change in intracellular cAMP accumulation. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11847099;Dbxref=PMID:11847099 P22888 UniProtKB Mutagenesis 643 643 . . . Note=Loss of palmitoylation. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15539429;Dbxref=PMID:15539429 P22888 UniProtKB Mutagenesis 644 644 . . . Note=Loss of palmitoylation. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15539429;Dbxref=PMID:15539429 P22888 UniProtKB Sequence conflict 7 7 . . . Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 19 19 . . . Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 27 28 . . . Note=EA->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 44 51 . . . Note=CPGPTAGL->APAPRPS;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 68 68 . . . Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 124 124 . . . Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 262 263 . . . Note=RE->KQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 270 270 . . . Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 274 274 . . . Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 290 290 . . . Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 311 323 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 448 448 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 540 540 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Sequence conflict 649 649 . . . Note=E->DP;Ontology_term=ECO:0000305;evidence=ECO:0000305 P22888 UniProtKB Beta strand 53 58 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 66 71 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 77 82 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 91 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 102 105 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 127 133 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 151 157 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 166 171 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 172 175 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 177 180 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 193 203 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 215 218 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 219 222 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 225 228 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 239 241 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 242 244 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 246 249 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 262 264 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 270 272 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 276 282 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 343 345 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 360 372 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 375 385 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 393 421 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 422 424 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 426 434 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 437 469 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 480 497 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 500 503 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 522 553 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Beta strand 556 559 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 561 563 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 564 593 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 601 611 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 614 623 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Turn 624 626 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH P22888 UniProtKB Helix 628 641 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7FIH