Descriptions

Gαi1 is a G-protein alpha subunit that plays a crucial role in signal transduction pathway initiated by G-protein-coupled receptor (GPCR) activation. G proteins function as transducers downstream of GPCRs in numerous signaling cascades. The alpha subunit contains the guanine nucleotide binding site and alternates between an active (GTP-bound state) and an inactive (GDP-bound state). Activated GPCR induces conformational change in Gαi1, which allows for GDP-to-GTP exchange by binding to the GPCR-binding site within a Ras-like domain, leading to dissociation of the Gαi1 subunit and initiation of downstream signaling.

Autoinhibitory domains (AIDs)

Target domain

192-368 (Ras-like domain)

Relief mechanism

Ligand binding, Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P30679

Entry ID Method Resolution Chain Position Source
AF-P30679-F1 Predicted AlphaFoldDB

452 variants for P30679

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1360472964 3 R>C No TOPMed
gnomAD
rs75723333 3 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75723333 3 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1359117471 4 S>L No gnomAD
rs1914460664 7 W>R No Ensembl
rs1914460721 7 W>S No TOPMed
rs376509314 8 R>C No ESP
ExAC
TOPMed
gnomAD
rs368219827 8 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376509314 8 R>S No ESP
ExAC
TOPMed
gnomAD
rs1240374665 9 C>* No gnomAD
rs1192549861 9 C>R No gnomAD
rs909320865 11 P>L No TOPMed
rs1474389894 12 W>C No gnomAD
rs1472159971 12 W>R No gnomAD
rs1159293046 12 W>S No TOPMed
gnomAD
rs758392333 15 T>M No ExAC
TOPMed
gnomAD
rs751274515 16 E>D No ExAC
TOPMed
gnomAD
rs979316332 17 D>E No Ensembl
rs755254026 17 D>V No ExAC
gnomAD
rs1914461534 18 E>A No TOPMed
gnomAD
rs1362058901 19 K>M No gnomAD
rs1400840530 20 A>V No gnomAD
rs1324102337 21 A>D No gnomAD
rs1914461790 21 A>T No Ensembl
rs374928184 22 A>S No ESP
ExAC
TOPMed
gnomAD
rs374928184 22 A>T No ESP
ExAC
TOPMed
gnomAD
rs771387678 23 R>L No ExAC
TOPMed
gnomAD
rs771387678 23 R>Q No ExAC
TOPMed
gnomAD
rs749833575 23 R>W No ExAC
TOPMed
gnomAD
rs1599316388 24 V>G No Ensembl
rs1351694404 24 V>L No TOPMed
gnomAD
rs1351694404 24 V>M No TOPMed
gnomAD
rs866327080 26 Q>H No TOPMed
rs1204709662 26 Q>R No gnomAD
rs200281819 27 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1444156721 28 I>T No TOPMed
gnomAD
rs1205539525 29 N>K No TOPMed
gnomAD
rs1914462784 30 R>K No Ensembl
rs1243645856 31 I>T No gnomAD
rs1914462950 33 L>S No Ensembl
rs746158062 34 E>* No ExAC
TOPMed
gnomAD
rs746158062 34 E>K No ExAC
TOPMed
gnomAD
rs768354703 34 E>V No ExAC
TOPMed
gnomAD
rs1157589821 35 Q>H No gnomAD
rs1382167803 37 K>Q No TOPMed
gnomAD
rs369043343 38 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761540533 40 R>C No ExAC
TOPMed
gnomAD
rs761540533 40 R>G No ExAC
TOPMed
gnomAD
rs764892056 40 R>H No ExAC
TOPMed
gnomAD
rs764892056 40 R>L No ExAC
TOPMed
gnomAD
rs764892056 40 R>P No ExAC
TOPMed
gnomAD
rs1336689193 41 G>E No gnomAD
rs766182128 41 G>R No ExAC
TOPMed
gnomAD
rs766182128 41 G>W No ExAC
TOPMed
gnomAD
TCGA novel 42 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1382366407 44 K>E No Ensembl
rs751384202 46 L>P No ExAC
gnomAD
rs1224199384
COSM1711603
48 L>F skin [Cosmic] No cosmic curated
gnomAD
TCGA novel
rs1347269720
48 L>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 50 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2144850916 51 G>D No Ensembl
rs772875677 52 E>A No ExAC
TOPMed
rs953694957 52 E>K No gnomAD
rs1226527441 53 S>C No gnomAD
rs912651393 53 S>R No gnomAD
rs1462808020
COSM1392338
54 G>R Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1361276117 54 G>V No gnomAD
rs1222837047 56 S>G No gnomAD
rs1290547277 56 S>I No TOPMed
gnomAD
rs1290547277 56 S>N No TOPMed
gnomAD
rs1218721506 57 T>A No TOPMed
gnomAD
rs1489677427 59 I>V No gnomAD
rs1914791565 60 K>R No gnomAD
rs866353382 61 Q>K No Ensembl
rs762498774 61 Q>R No ExAC
TOPMed
gnomAD
rs1428444766 62 M>I No TOPMed
gnomAD
rs1914792097 65 I>V No Ensembl
rs774223240 67 G>R No ExAC
TOPMed
gnomAD
rs774223240 67 G>S No ExAC
TOPMed
gnomAD
rs1402393684 67 G>V No TOPMed
rs148867971 68 A>T No ESP
ExAC
TOPMed
gnomAD
rs1304482491 69 G>D No gnomAD
rs752447530 69 G>S No ExAC
TOPMed
gnomAD
rs1914792990 70 Y>* No TOPMed
rs1293328313 70 Y>H No gnomAD
COSM1392339
rs1914793059
71 S>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
TCGA novel 71 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779034100 72 E>G No ExAC
TOPMed
gnomAD
rs1246435230 72 E>K No TOPMed
gnomAD
rs1246435230 72 E>Q No TOPMed
gnomAD
rs779034100 72 E>V No ExAC
TOPMed
gnomAD
rs573354292 74 E>K No 1000Genomes
ExAC
gnomAD
rs573354292 74 E>Q No 1000Genomes
ExAC
gnomAD
rs758911514 75 R>C No ExAC
TOPMed
gnomAD
rs1260835156
COSM4687377
75 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs747333396 76 K>Q No ExAC
gnomAD
rs1914793833 76 K>R No TOPMed
rs1914793905 77 G>D No TOPMed
gnomAD
rs867328918 78 F>L No Ensembl
rs1914794130 78 F>S No Ensembl
rs1245473019 79 R>G No TOPMed
gnomAD
rs377345709 79 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1245473019 79 R>W No TOPMed
gnomAD
rs541029560 80 P>S No 1000Genomes
ExAC
gnomAD
rs759422477 82 V>F No ExAC
TOPMed
gnomAD
rs759422477 82 V>I No ExAC
TOPMed
gnomAD
rs759422477 82 V>L No ExAC
TOPMed
gnomAD
rs760394355 83 Y>H No ExAC
TOPMed
gnomAD
rs1318539355 85 N>K No TOPMed
gnomAD
rs1309913328 86 I>S No TOPMed
rs1408195475 86 I>V No TOPMed
gnomAD
rs140597256 88 V>L No ESP
TOPMed
gnomAD
rs140597256 88 V>M No ESP
TOPMed
gnomAD
rs1376644489 90 M>I No gnomAD
rs1914795414 90 M>T No Ensembl
rs757375947 91 R>P No TOPMed
rs757375947 91 R>Q No TOPMed
rs1307234170 92 A>P No TOPMed
gnomAD
rs1265601037 93 M>I No gnomAD
rs373914616 93 M>T No ESP
ExAC
TOPMed
gnomAD
rs1315852699 93 M>V No gnomAD
rs1914796053 94 I>L No TOPMed
rs1203510941 95 E>G No gnomAD
rs1462163503 95 E>K No gnomAD
rs1178039894 97 M>I No gnomAD
rs564736265 97 M>R No 1000Genomes
ExAC
gnomAD
rs564736265 97 M>T No 1000Genomes
ExAC
gnomAD
rs925980060 97 M>V No TOPMed
gnomAD
rs1417467645 99 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs765270851 99 R>W No ExAC
gnomAD
rs1470280131 102 I>F No gnomAD
rs1914796966 102 I>M No TOPMed
rs758854339 102 I>S No ExAC
TOPMed
gnomAD
rs1470280131 102 I>V No gnomAD
rs145733927 103 P>A No ESP
ExAC
TOPMed
gnomAD
rs1444066811 104 F>S No TOPMed
gnomAD
rs377517036 105 S>I No ESP
ExAC
TOPMed
gnomAD
rs377517036 105 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755461939 105 S>R No ExAC
TOPMed
gnomAD
rs1187519069 106 R>W No TOPMed
rs748943590 108 E>K No ExAC
gnomAD
rs1261785199 109 S>N No gnomAD
rs1253541109 110 K>N No TOPMed
rs2144851270 110 K>T No Ensembl
rs200110632 111 H>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs200110632 111 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs141840304 111 H>Y No ESP
ExAC
TOPMed
gnomAD
rs1415802898 112 H>Q No TOPMed
gnomAD
rs771240163 113 A>P No ExAC
gnomAD
rs375635151 113 A>V No ESP
TOPMed
RCV000969111
rs139115108
114 S>N No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs772040139 114 S>R No ExAC
gnomAD
rs774583770 114 S>R No ExAC
gnomAD
rs149877401 117 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs1914842437
117 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
TCGA novel 119 Q>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1914842765 121 P>R No TOPMed
rs761059634 124 V>A No ExAC
TOPMed
gnomAD
rs1400750567 126 T>K No TOPMed
gnomAD
TCGA novel 126 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764555365 128 E>A No ExAC
gnomAD
rs1159274987 129 K>Q No TOPMed
rs371651845 130 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371651845 130 R>G No ESP
ExAC
TOPMed
gnomAD
rs765960537 130 R>H No ExAC
gnomAD
rs765960537 130 R>L No ExAC
gnomAD
rs751076987 131 Y>* No ExAC
gnomAD
rs902119948 131 Y>C No TOPMed
gnomAD
rs902119948 131 Y>S No TOPMed
gnomAD
rs1242908457 132 A>S No gnomAD
rs1351583596 133 A>V No gnomAD
rs752729213 134 A>S No ExAC
TOPMed
gnomAD
rs752729213 134 A>T No ExAC
TOPMed
gnomAD
rs1914844186 135 M>I No Ensembl
rs1260773989 135 M>L No TOPMed
rs62127298 136 Q>K No Ensembl
rs1205441758 136 Q>R No gnomAD
rs1243554188 137 W>* No gnomAD
rs1914844555 138 L>R No Ensembl
COSM1564525 139 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777656970 139 W>G No ExAC
TOPMed
gnomAD
rs749044353 140 R>G No ExAC
gnomAD
rs771281132 140 R>T No ExAC
TOPMed
gnomAD
rs1599325501 141 D>G No Ensembl
rs779344852 141 D>N No ExAC
gnomAD
rs779344852 141 D>Y No ExAC
gnomAD
rs772239006 142 A>G No ExAC
TOPMed
gnomAD
rs772239006 142 A>V No ExAC
TOPMed
gnomAD
rs1914845429 143 G>S No TOPMed
rs369811746 145 R>G No ESP
ExAC
TOPMed
gnomAD
COSM3787631
rs1914845604
145 R>Q pancreas [Cosmic] No cosmic curated
TOPMed
rs369811746 145 R>W No ESP
ExAC
TOPMed
gnomAD
rs1006352290 146 A>D No TOPMed
rs766783580 146 A>T No Ensembl
rs310680 147 C>F No 1000Genomes
ESP
ExAC
gnomAD
TCGA novel 147 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
VAR_028000
rs310680
147 C>Y No UniProt
1000Genomes
ESP
ExAC
dbSNP
gnomAD
rs765585779 148 Y>C No ExAC
TOPMed
gnomAD
rs1326276918 149 E>D No Ensembl
rs1245753040 149 E>V No TOPMed
rs774052972
COSM1208390
150 R>C Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774052972 150 R>G No ExAC
TOPMed
gnomAD
rs759088980 150 R>H No ExAC
TOPMed
gnomAD
rs752109453 151 R>W No ExAC
TOPMed
gnomAD
rs1345791697 152 R>L No gnomAD
rs1263645841 152 R>W No TOPMed
gnomAD
rs867791191
COSM3532103
153 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs764054033 155 H>N No ExAC
TOPMed
gnomAD
rs764054033 155 H>Y No ExAC
TOPMed
gnomAD
rs980800256 157 L>P No TOPMed
gnomAD
rs1914847547
COSM1208391
158 D>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs778829713 158 D>V No ExAC
gnomAD
rs746129065 159 S>* No ExAC
gnomAD
rs747001611 161 V>L No ExAC
TOPMed
gnomAD
rs747001611 161 V>M No ExAC
TOPMed
gnomAD
rs1372088870 162 Y>H No TOPMed
gnomAD
rs868282050 163 Y>C No Ensembl
rs865832368 163 Y>H No Ensembl
rs1914885378 166 H>N No TOPMed
COSM994463 167 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201656938 168 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs756566543 168 E>G No Ensembl
rs76346810 168 E>K No Ensembl
rs199847220 169 R>C No ESP
ExAC
TOPMed
gnomAD
rs751779470 169 R>H No ExAC
TOPMed
gnomAD
rs199847220 169 R>S No ESP
ExAC
TOPMed
gnomAD
rs1187081050 170 I>L No TOPMed
gnomAD
rs755162317 171 T>A No ExAC
gnomAD
rs1445502765 171 T>I No gnomAD
rs755162317 171 T>P No ExAC
gnomAD
rs749787028 172 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2144855125 173 E>G No Ensembl
COSM108657
rs139079286
173 E>K skin [Cosmic] No cosmic curated
Ensembl
rs1914886660 174 G>D No Ensembl
rs1478806817 174 G>S No TOPMed
gnomAD
rs1914886729
COSM3959885
175 Y>C lung [Cosmic] No cosmic curated
TOPMed
rs201355990
COSM4076646
176 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1389308286 177 P>L No TOPMed
gnomAD
rs1389308286 177 P>R No TOPMed
gnomAD
rs746672546 178 T>I No ExAC
TOPMed
gnomAD
rs1318333423 179 A>G No TOPMed
gnomAD
rs1318333423 179 A>V No TOPMed
gnomAD
rs1205782310 180 Q>P No TOPMed
gnomAD
rs1205782310 180 Q>R No TOPMed
gnomAD
rs143953630 182 V>M No ESP
ExAC
TOPMed
gnomAD
rs761338145 184 R>C No ExAC
TOPMed
gnomAD
rs200432733 184 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs200432733 184 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 185 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773083225 186 R>C No ExAC
gnomAD
rs867130891
COSM710491
186 R>H lung endometrium central_nervous_system [Cosmic] No cosmic curated
Ensembl
rs2230330
RCV000973222
187 M>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
rs1599326429 187 M>T No gnomAD
rs751333139 191 G>D No ExAC
TOPMed
gnomAD
rs1914888165 191 G>S No gnomAD
rs1914888310 192 I>V No Ensembl
rs115644662 193 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1914888459 193 N>S No Ensembl
rs775021862
COSM178593
194 E>K large_intestine [Cosmic] No cosmic curated
gnomAD
rs1914888964 195 Y>H No TOPMed
rs756241789 196 C>R No ExAC
gnomAD
rs1914889207 197 F>S No Ensembl
rs1156831129 198 S>P No TOPMed
gnomAD
rs151214875
COSM1208393
199 V>M oesophagus large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1914889588 200 Q>E No gnomAD
rs369602953 201 K>N No ESP
ExAC
TOPMed
gnomAD
rs754338447 201 K>Q No ExAC
gnomAD
rs968239084 201 K>R No TOPMed
rs1253691718 204 L>V No TOPMed
rs1288462652 205 R>Q No gnomAD
rs746938649 205 R>W No ExAC
TOPMed
gnomAD
rs1914999642 207 V>G No TOPMed
rs755751411 207 V>M No ExAC
gnomAD
rs367834807 208 D>G No ESP
ExAC
TOPMed
gnomAD
TCGA novel 209 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748777205 209 V>I No ExAC
gnomAD
rs770781206 210 G>R No ExAC
TOPMed
gnomAD
rs774341405 211 G>D No ExAC
TOPMed
gnomAD
rs774341405 211 G>V No ExAC
TOPMed
gnomAD
rs1377254685 213 K>Q No gnomAD
rs771890721 216 R>C No ExAC
TOPMed
gnomAD
rs775221783 216 R>H No ExAC
gnomAD
rs1349909924 217 K>* No gnomAD
TCGA novel 217 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3532107 219 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs796975912 219 W>C No TOPMed
rs1436462432 219 W>G No gnomAD
rs1436462432 219 W>R No gnomAD
COSM4076647 220 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1915001464 221 H>N No gnomAD
rs1296430786 222 C>R No TOPMed
gnomAD
rs1915001855 224 E>D No Ensembl
rs1915002017 226 V>E No Ensembl
rs1915002193 227 I>N No Ensembl
rs1365825471 230 I>T No TOPMed
gnomAD
rs764319987 230 I>V No ExAC
TOPMed
gnomAD
rs2144859641 231 Y>C No Ensembl
rs1295511630 232 L>P No TOPMed
gnomAD
rs1295511630 232 L>R No TOPMed
gnomAD
rs762017781 236 S>G No ExAC
gnomAD
rs1915003388 236 S>N No Ensembl
rs146483408 238 Y>* No ESP
ExAC
TOPMed
gnomAD
TCGA novel 239 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM5389308 239 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375791169 241 C>Y No ESP
TOPMed
gnomAD
rs1220789775 242 L>P No gnomAD
rs1374119223 242 L>V No TOPMed
gnomAD
TCGA novel 243 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1029823852 244 E>* No TOPMed
gnomAD
TCGA novel 244 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1915003870 244 E>G No Ensembl
rs1029823852 244 E>K No TOPMed
gnomAD
rs1029823852 244 E>Q No TOPMed
gnomAD
rs1443850109 246 N>H No TOPMed
gnomAD
rs1915004065 246 N>S No gnomAD
rs1011689952 247 Q>R No TOPMed
gnomAD
TCGA novel 248 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3718248
rs200649442
250 R>C liver [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs773385959 250 R>H No ExAC
TOPMed
gnomAD
rs145665648 251 M>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1252636922 251 M>R No TOPMed
gnomAD
rs145665648 251 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1351158900 252 K>Q No gnomAD
COSM4154156
rs199709383
254 S>R kidney [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs760016259 256 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 258 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1395054270 259 G>V No TOPMed
gnomAD
rs1656782963 260 T>S No TOPMed
TCGA novel 261 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1915062291 262 L>Q No TOPMed
TCGA novel 263 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM4831239 263 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1441521059 263 E>K No gnomAD
rs767761894 265 P>T No ExAC
gnomAD
rs1915062623 266 W>S No TOPMed
rs753564320 268 K>R No ExAC
TOPMed
gnomAD
rs756817009 269 S>N No ExAC
gnomAD
COSM418342 270 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1304349285 271 S>F No TOPMed
gnomAD
rs1481671679 272 V>I No gnomAD
rs1173531250 273 I>V No gnomAD
COSM4404302
rs1915063259
274 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs749873249 274 L>R No ExAC
gnomAD
rs1474419176 278 K>N No gnomAD
rs1915063693 279 T>S No Ensembl
rs1156779924 280 D>N No TOPMed
gnomAD
rs746905865 282 L>P No ExAC
gnomAD
rs143247880 283 E>G No ESP
ExAC
TOPMed
gnomAD
rs1915064470 284 E>* No Ensembl
rs1915064622 286 I>V No TOPMed
gnomAD
rs1275247896 287 P>L No TOPMed
gnomAD
rs868247802
COSM3532108
287 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1198409269 288 T>A No gnomAD
rs773440731 288 T>I No ExAC
TOPMed
gnomAD
TCGA novel 288 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1483130427 289 S>F No TOPMed
gnomAD
rs1483130427 289 S>Y No TOPMed
gnomAD
rs1266791223 290 H>Q No TOPMed
gnomAD
rs1203827962 292 A>S No gnomAD
rs1203827962 292 A>T No gnomAD
rs1248897452 293 T>A No gnomAD
rs1200174902 294 Y>C No gnomAD
rs763062805 295 F>I No ExAC
gnomAD
rs1330649492 296 P>L No TOPMed
gnomAD
rs759941706 299 Q>* No ExAC
gnomAD
rs1915066345 299 Q>R No TOPMed
rs1555707385 300 G>R No gnomAD
rs1555707385 300 G>S No gnomAD
rs1446504412 300 G>V No gnomAD
rs1272031360 301 P>L No TOPMed
gnomAD
COSM142295 301 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1357304874 302 K>E No TOPMed
gnomAD
rs774252847 302 K>N No ExAC
gnomAD
rs1915169237 302 K>R No TOPMed
rs1915169386 304 D>Y No Ensembl
rs1017132181 308 A>T No Ensembl
COSM4849707 309 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746406189 309 K>Q No ExAC
gnomAD
rs772397465 309 K>R No ExAC
gnomAD
rs1568300677 310 R>K No Ensembl
rs963088906 311 F>L No Ensembl
rs2144866821 312 I>T No Ensembl
rs1324531419 313 L>P No TOPMed
gnomAD
rs775924021 313 L>V No ExAC
TOPMed
gnomAD
rs761093347 314 D>V No ExAC
gnomAD
rs1354906492 315 M>K No TOPMed
gnomAD
rs1915170059 315 M>L No TOPMed
gnomAD
rs201928137 317 T>M No ExAC
TOPMed
gnomAD
rs1393781581 317 T>S No TOPMed
rs1599332869 320 Y>H No Ensembl
rs955365992 321 T>I No TOPMed
gnomAD
rs955365992 321 T>N No TOPMed
gnomAD
rs762561049 321 T>P No ExAC
TOPMed
gnomAD
TCGA novel
rs372928786
322 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1915171324 323 C>Y No TOPMed
gnomAD
rs754957377 324 V>G No ExAC
TOPMed
gnomAD
rs767291635 325 D>G No ExAC
TOPMed
gnomAD
rs752679814 326 G>C No ExAC
TOPMed
gnomAD
rs1389192934 326 G>D No gnomAD
rs752679814 326 G>R No ExAC
TOPMed
gnomAD
rs752679814 326 G>S No ExAC
TOPMed
gnomAD
rs777690665 327 P>S No ExAC
TOPMed
gnomAD
rs757502333 328 E>D No ExAC
TOPMed
gnomAD
rs1396214838
COSM123390
328 E>K upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs745864047 332 K>E No ExAC
TOPMed
gnomAD
rs772184102 332 K>R No ExAC
gnomAD
rs747491972 334 A>P No ExAC
TOPMed
gnomAD
rs747491972 334 A>S No ExAC
TOPMed
gnomAD
rs747491972 334 A>T No ExAC
TOPMed
gnomAD
rs1483718966 334 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1465632602 335 R>* No Ensembl
rs1915172756 335 R>L No Ensembl
rs867088858 338 R>C No TOPMed
gnomAD
rs1184334208 338 R>H No gnomAD
rs867088858 338 R>S No TOPMed
gnomAD
rs1028072297 339 L>F No TOPMed
rs1599332950 340 F>S No Ensembl
rs1337172056 342 H>R No TOPMed
gnomAD
rs765889898 342 H>Y No ExAC
gnomAD
rs1360637442 343 Y>C No TOPMed
gnomAD
rs2144866959 344 T>I No Ensembl
rs1271750566 344 T>S No TOPMed
gnomAD
rs544907753 346 A>T No 1000Genomes
ExAC
gnomAD
rs752734019 349 T>A No ExAC
gnomAD
rs764576537 350 Q>H No ExAC
TOPMed
gnomAD
rs764000592 353 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs764000592 353 R>G No ExAC
TOPMed
gnomAD
COSM3692602 353 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764000592 353 R>S No ExAC
TOPMed
gnomAD
rs2144866997 356 F>L No Ensembl
rs1915174393 356 F>V No gnomAD
rs867394387 357 K>N No Ensembl
rs1232858885 357 K>R No TOPMed
gnomAD
rs757501367 359 V>L No ExAC
TOPMed
gnomAD
rs2144867011 360 R>Q No Ensembl
rs1205964029 360 R>W No TOPMed
gnomAD
rs1816137028 362 S>L No TOPMed
rs1482702897 363 V>L No TOPMed
gnomAD
rs1482702897 363 V>M No TOPMed
gnomAD
rs779067884 364 L>F No ExAC
gnomAD
rs779067884 364 L>V No ExAC
gnomAD
rs1433555721 365 A>S No TOPMed
gnomAD
rs1433555721 365 A>T No TOPMed
gnomAD
COSM107599
rs144051973
366 R>C skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs144051973 366 R>S No TOPMed
gnomAD
rs758456407 369 D>E No ExAC
TOPMed
gnomAD
TCGA novel 369 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1394097918 371 I>V No TOPMed
rs780149273 372 N>H No ExAC
gnomAD
rs575093003 372 N>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs575093003 372 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1440710887 373 L>V No gnomAD

No associated diseases with P30679

No regional properties for P30679

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P30679

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
heterotrimeric G-protein complex Any of a family of heterotrimeric GTP-binding and hydrolyzing proteins; they belong to a superfamily of GTPases that includes monomeric proteins such as EF-Tu and RAS. Heterotrimeric G-proteins consist of three subunits; the alpha subunit contains the guanine nucleotide binding site and possesses GTPase activity; the beta and gamma subunits are tightly associated and function as a beta-gamma heterodimer; extrinsic plasma membrane proteins (cytoplasmic face) that function as a complex to transduce signals from G protein-coupled receptors to an effector protein.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

5 GO annotations of molecular function

Name Definition
G protein-coupled receptor binding Binding to a G protein-coupled receptor.
G-protein beta/gamma-subunit complex binding Binding to a complex of G-protein beta/gamma subunits.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction
metal ion binding Binding to a metal ion.

6 GO annotations of biological process

Name Definition
action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities.
activation of phospholipase C activity The initiation of the activity of the inactive enzyme phospolipase C as the result of The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand.
adenylate cyclase-modulating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP).
calcium-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
phospholipase C-activating dopamine receptor signaling pathway A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway A phospholipase C-activating G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38408 GNA14 Guanine nucleotide-binding protein subunit alpha-14 Bos taurus (Bovine) PR
P23625 Galphaq G protein alpha q subunit Drosophila melanogaster (Fruit fly) PR
O95837 GNA14 Guanine nucleotide-binding protein subunit alpha-14 Homo sapiens (Human) SS
P29992 GNA11 Guanine nucleotide-binding protein subunit alpha-11 Homo sapiens (Human) SS
P50148 GNAQ Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P11488 GNAT1 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P19087 GNAT2 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P08754 GNAI3 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
A8MTJ3 GNAT3 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P19086 GNAZ Guanine nucleotide-binding protein G Homo sapiens (Human) SS
Q14344 GNA13 Guanine nucleotide-binding protein subunit alpha-13 Homo sapiens (Human) SS
Q03113 GNA12 Guanine nucleotide-binding protein subunit alpha-12 Homo sapiens (Human) SS
P38405 GNAL Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P04899 GNAI2 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P63096 GNAI1 Guanine nucleotide-binding protein G Homo sapiens (Human) EV
P09471 GNAO1 Guanine nucleotide-binding protein G Homo sapiens (Human) SS
P21279 Gnaq Guanine nucleotide-binding protein G(q) subunit alpha Mus musculus (Mouse) PR
P30678 Gna15 Guanine nucleotide-binding protein subunit alpha-15 Mus musculus (Mouse) PR
Q2PKF4 GNAQ Guanine nucleotide-binding protein G(q) subunit alpha Sus scrofa (Pig) PR
P93564 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Solanum tuberosum (Potato) SS
Q9JID2 Gna11 Guanine nucleotide-binding protein subunit alpha-11 Rattus norvegicus (Rat) SS
P82471 Gnaq Guanine nucleotide-binding protein G Rattus norvegicus (Rat) SS
O88302 Gna15 Guanine nucleotide-binding protein subunit alpha-15 Rattus norvegicus (Rat) SS
Q0DJ33 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Oryza sativa subsp. japonica (Rice) SS
P49084 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Glycine max (Soybean) (Glycine hispida) SS
P93163 GPA2 Guanine nucleotide-binding protein alpha-2 subunit Glycine max (Soybean) (Glycine hispida) SS
O80462 XLG1 Extra-large guanine nucleotide-binding protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
P18064 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Arabidopsis thaliana (Mouse-ear cress) SS
P26981 GPA1 Guanine nucleotide-binding protein alpha-1 subunit Solanum lycopersicum (Tomato) (Lycopersicon esculentum) SS
10 20 30 40 50 60
MARSLTWRCC PWCLTEDEKA AARVDQEINR ILLEQKKQDR GELKLLLLGP GESGKSTFIK
70 80 90 100 110 120
QMRIIHGAGY SEEERKGFRP LVYQNIFVSM RAMIEAMERL QIPFSRPESK HHASLVMSQD
130 140 150 160 170 180
PYKVTTFEKR YAAAMQWLWR DAGIRACYER RREFHLLDSA VYYLSHLERI TEEGYVPTAQ
190 200 210 220 230 240
DVLRSRMPTT GINEYCFSVQ KTNLRIVDVG GQKSERKKWI HCFENVIALI YLASLSEYDQ
250 260 270 280 290 300
CLEENNQENR MKESLALFGT ILELPWFKST SVILFLNKTD ILEEKIPTSH LATYFPSFQG
310 320 330 340 350 360
PKQDAEAAKR FILDMYTRMY TGCVDGPEGS KKGARSRRLF SHYTCATDTQ NIRKVFKDVR
370
DSVLARYLDE INLL