##gff-version 3 Q01726 UniProtKB Chain 1 317 . . . ID=PRO_0000069818;Note=Melanocyte-stimulating hormone receptor Q01726 UniProtKB Topological domain 1 37 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 38 63 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 64 72 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 73 93 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 94 118 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 119 140 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 141 163 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 164 183 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 184 191 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 192 211 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 212 240 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 241 266 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 267 279 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Transmembrane 280 300 . . . Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Topological domain 301 317 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Lipidation 315 315 . . . Note=S-palmitoyl cysteine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Glycosylation 29 29 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q01726 UniProtKB Natural variant 38 38 . . . ID=VAR_059018;Note=In CMM5%3B moderate decrease in coupling to the cAMP pathway%3B reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19338054;Dbxref=dbSNP:rs200050206,PMID:19338054 Q01726 UniProtKB Natural variant 40 40 . . . ID=VAR_013611;Note=Correlated with fair hair and light skin%3B partial loss-of-function. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11707265;Dbxref=dbSNP:rs748138541,PMID:11707265 Q01726 UniProtKB Natural variant 41 41 . . . ID=VAR_059019;Note=In CMM5%3B complete absence of functional coupling to the cAMP pathway%3B reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. S->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:19338054;Dbxref=PMID:17434924,PMID:19338054 Q01726 UniProtKB Natural variant 51 51 . . . ID=VAR_059020;Note=In CMM5%3B moderate decrease in coupling to the cAMP pathway%3B reduced cell surface expression as a consequence of retention in the endoplasmic reticulum. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19338054;Dbxref=dbSNP:rs766080391,PMID:19338054 Q01726 UniProtKB Natural variant 60 60 . . . ID=VAR_013612;Note=Probable risk factor for developing melanoma%3B unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10403794,ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:18987736,ECO:0000269|PubMed:9302268,ECO:0000269|Ref.12;Dbxref=dbSNP:rs1805005,PMID:10403794,PMID:17434924,PMID:18987736,PMID:9302268 Q01726 UniProtKB Natural variant 67 67 . . . ID=VAR_009522;Note=Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation%3B shows a decreased responses to low concentrations of NDP-MSH stimulation. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10101176,ECO:0000269|PubMed:16463023;Dbxref=dbSNP:rs34090186,PMID:10101176,PMID:16463023 Q01726 UniProtKB Natural variant 84 84 . . . ID=VAR_003507;Note=Probable risk factor for developing melanoma%3B reduced expression at the cell surface. D->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10101176,ECO:0000269|PubMed:15972726,ECO:0000269|PubMed:8894704,ECO:0000269|PubMed:8990005;Dbxref=dbSNP:rs1805006,PMID:10101176,PMID:15972726,PMID:8894704,PMID:8990005 Q01726 UniProtKB Natural variant 89 89 . . . ID=VAR_042654;Note=G->R;Dbxref=dbSNP:rs34540312 Q01726 UniProtKB Natural variant 92 92 . . . ID=VAR_003508;Note=Probable risk factor for developing melanoma%3B predominantly found in type I skin%3B shows a moderate and not significant decreased of cAMP production to NDP-MSH stimulation. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10101176,ECO:0000269|PubMed:16463023,ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:18987736,ECO:0000269|PubMed:8990005,ECO:0000269|PubMed:9302268,ECO:0000269|Ref.12;Dbxref=dbSNP:rs2228479,PMID:10101176,PMID:16463023,PMID:17434924,PMID:18987736,PMID:8990005,PMID:9302268 Q01726 UniProtKB Natural variant 93 93 . . . ID=VAR_059021;Note=Loss-of-function mutation abolishing agonist binding. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12473109;Dbxref=PMID:12473109 Q01726 UniProtKB Natural variant 95 95 . . . ID=VAR_042655;Note=T->M;Dbxref=dbSNP:rs34158934 Q01726 UniProtKB Natural variant 104 104 . . . ID=VAR_042656;Note=G->S;Dbxref=dbSNP:rs2229617 Q01726 UniProtKB Natural variant 120 120 . . . ID=VAR_042657;Note=Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation%3B shows decreased responses to low concentrations of NDP-MSH stimulation. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16463023;Dbxref=dbSNP:rs33932559,PMID:16463023 Q01726 UniProtKB Natural variant 122 122 . . . ID=VAR_013613;Note=Correlated with fair hair and light skin%3B partial loss-of-function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11707265;Dbxref=dbSNP:rs201192930,PMID:11707265 Q01726 UniProtKB Natural variant 128 128 . . . ID=VAR_059022;Note=In CMM5%3B complete absence of functional coupling to the cAMP pathway%3B trafficked to the cell surface but unable to bind agonist efficiently. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:19338054;Dbxref=dbSNP:rs374235260,PMID:17434924,PMID:19338054 Q01726 UniProtKB Natural variant 142 142 . . . ID=VAR_059023;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10403794,ECO:0000269|PubMed:12473109;Dbxref=dbSNP:rs11547464,PMID:10403794,PMID:12473109 Q01726 UniProtKB Natural variant 147 147 . . . ID=VAR_042658;Note=Probable risk factor for UV-induced skin damage%3B unresponsive to NDP-MSH stimulation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16463023;Dbxref=PMID:16463023 Q01726 UniProtKB Natural variant 151 151 . . . ID=VAR_008522;Note=Correlated with red hair and light skin of type I%3B binds to alpha-MSH but cannot be stimulated to produce cAMP%3B reduced expression at the cell surface. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10101176,ECO:0000269|PubMed:10403794,ECO:0000269|PubMed:12473109,ECO:0000269|PubMed:15972726,ECO:0000269|PubMed:16463023,ECO:0000269|PubMed:17952075,ECO:0000269|PubMed:9302268,ECO:0000269|PubMed:9571181,ECO:0000269|Ref.12;Dbxref=dbSNP:rs1805007,PMID:10101176,PMID:10403794,PMID:12473109,PMID:15972726,PMID:16463023,PMID:17952075,PMID:9302268,PMID:9571181 Q01726 UniProtKB Natural variant 155 155 . . . ID=VAR_013614;Note=Probable risk factor for developing melanoma%3B reduced expression at the cell surface. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15972726,ECO:0000269|PubMed:17434924,ECO:0000269|Ref.12;Dbxref=dbSNP:rs1110400,PMID:15489334,PMID:15972726,PMID:17434924 Q01726 UniProtKB Natural variant 156 156 . . . ID=VAR_013615;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.12;Dbxref=dbSNP:rs3212365 Q01726 UniProtKB Natural variant 157 157 . . . ID=VAR_042659;Note=Probable risk factor for UV-induced skin damage%3B shows a dramatically decreased cAMP production to NDP-MSH stimulation. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16463023;Dbxref=dbSNP:rs104894524,PMID:16463023 Q01726 UniProtKB Natural variant 159 159 . . . ID=VAR_042660;Note=Probable risk factor for UV-induced skin damage%3B shows a strong decreased cAMP production to NDP-MSH stimulation. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16463023;Dbxref=dbSNP:rs104894523,PMID:16463023 Q01726 UniProtKB Natural variant 160 160 . . . ID=VAR_008523;Note=Probable risk factor for developing melanoma%3B unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation%3B reduced expression at the cell surface.. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10403794,ECO:0000269|PubMed:15972726,ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:9302268,ECO:0000269|PubMed:9665397,ECO:0000269|Ref.12;Dbxref=dbSNP:rs1805008,PMID:10403794,PMID:15972726,PMID:17434924,PMID:9302268,PMID:9665397 Q01726 UniProtKB Natural variant 162 162 . . . ID=VAR_013632;Note=R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11442765;Dbxref=PMID:11442765 Q01726 UniProtKB Natural variant 163 163 . . . ID=VAR_009523;Note=Probable risk factor for developing melanoma%3B shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation%3B shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10101176,ECO:0000269|PubMed:16463023,ECO:0000269|PubMed:17434924,ECO:0000269|Ref.12;Dbxref=dbSNP:rs885479,PMID:10101176,PMID:16463023,PMID:17434924 Q01726 UniProtKB Natural variant 166 166 . . . ID=VAR_042661;Note=Shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation%3B shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16463023;Dbxref=dbSNP:rs35040147,PMID:16463023 Q01726 UniProtKB Natural variant 171 171 . . . ID=VAR_042662;Note=A->S;Dbxref=dbSNP:rs35784916 Q01726 UniProtKB Natural variant 196 196 . . . ID=VAR_013616;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.12;Dbxref=dbSNP:rs3212366 Q01726 UniProtKB Natural variant 281 281 . . . ID=VAR_059024;Note=Does not affect receptor surface expression%2C agonist binding and agonist-induced signaling. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:19338054;Dbxref=dbSNP:rs141177570,PMID:17434924,PMID:19338054 Q01726 UniProtKB Natural variant 289 289 . . . ID=VAR_059025;Note=In CMM5%3B complete absence of functional coupling to the cAMP pathway%3B trafficked to the cell surface but unable to bind agonist efficiently. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19338054;Dbxref=dbSNP:rs369542041,PMID:19338054 Q01726 UniProtKB Natural variant 294 294 . . . ID=VAR_008524;Note=Probable risk factor for developing melanoma%3B unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha-melanocyte-stimulating hormone stimulation. D->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10403794,ECO:0000269|PubMed:17434924,ECO:0000269|PubMed:7581459,ECO:0000269|PubMed:9302268;Dbxref=dbSNP:rs1805009,PMID:10403794,PMID:17434924,PMID:7581459,PMID:9302268 Q01726 UniProtKB Mutagenesis 65 65 . . . Note=Only minor effect on internalization rate and protein half-life%3B when associated with R-226%3B R-238 and R-310. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19737927;Dbxref=PMID:19737927 Q01726 UniProtKB Mutagenesis 226 226 . . . Note=Only minor effect on internalization rate and protein half-life%3B when associated with R-65%3B R-238 and R-310. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19737927;Dbxref=PMID:19737927 Q01726 UniProtKB Mutagenesis 238 238 . . . Note=Only minor effect on internalization rate and protein half-life%3B when associated with R-65%3B R-226 and R-310. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19737927;Dbxref=PMID:19737927 Q01726 UniProtKB Mutagenesis 310 310 . . . Note=Only minor effect on internalization rate and protein half-life%3B when associated with R-65%3B R-226 and R-238. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19737927;Dbxref=PMID:19737927 Q01726 UniProtKB Sequence conflict 90 90 . . . Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q01726 UniProtKB Sequence conflict 164 164 . . . Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q01726 UniProtKB Sequence conflict 222 222 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q01726 UniProtKB Helix 42 65 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 67 69 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 72 102 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Beta strand 104 106 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4I Q01726 UniProtKB Helix 110 147 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 149 151 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 152 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 158 181 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Turn 182 184 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4F Q01726 UniProtKB Helix 186 225 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 238 266 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 271 277 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 280 298 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Turn 299 301 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H Q01726 UniProtKB Helix 303 310 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7F4H