P38405
SS
Gene name |
GNAL |
Protein name |
Guanine nucleotide-binding protein G |
Names |
olf subunit alpha , Adenylate cyclase-stimulating G alpha protein, olfactory type |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2774 |
EC number |
|
Protein Class |
|
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 |
194-375 (Ras-like domain) |
Relief mechanism |
Ligand binding, Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Goricanec D et al. (2016) "Conformational dynamics of a G-protein α subunit is tightly regulated by nucleotide binding", Proceedings of the National Academy of Sciences of the United States of America, 113, E3629-38
- Coleman DE et al. (1999) "Structure of Gialpha1.GppNHp, autoinhibition in a galpha protein-substrate complex", The Journal of biological chemistry, 274, 16669-72
- Lutz S et al. (2007) "Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs", Science (New York, N.Y.), 318, 1923-7
Autoinhibited structure
Activated structure
4 structures for P38405
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8EL8 | EM | 320 A | A | 1-381 | PDB |
| 8KGK | EM | 316 A | PDB | ||
| 8KH4 | EM | 310 A | PDB | ||
| AF-P38405-F1 | Predicted | AlphaFoldDB |
219 variants for P38405
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2032882195 RCV001348008 |
13 | D>Y | Dystonic disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA130676 RCV000033106 COSM4687393 rs398122928 |
21 | R>* | Variant assessed as Somatic; HIGH impact. Dystonia 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2143096767 RCV001993286 |
22 | R>missing | Dystonic disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2143097031 RCV001941774 |
31 | Q>* | Dystonic disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000466027 rs1060504720 CA16616003 |
38 | A>E | Dystonic disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1598429555 RCV001003996 |
53 | S>F | Limb dystonia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs371094261 RCV001311893 RCV001239038 |
92 | T>A | Dystonic disorder [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs398122926 RCV000033104 CA130674 |
95 | S>missing | Dystonia 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_069330 | 102 | P>del | DYT25 [UniProt] | Yes | UniProt |
|
RCV003236771 rs398122923 CA130667 VAR_069331 RCV000033101 |
137 | V>M | Dystonia 25 DYT25; loss of function mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000033103 rs398122925 CA130672 VAR_069332 |
155 | E>K | Dystonia 25 DYT25; loss of function mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2143650879 RCV001972728 |
160 | D>missing | Dystonic disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990074 rs1598436429 |
178 | T>I | Dystonia 25 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000033105 CA130675 rs398122927 |
198 | R>missing | Dystonia 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002220222 rs186859429 COSM4750034 COSM4750033 RCV002562300 |
235 | A>T | Variant assessed as Somatic; MODERATE impact. Dystonic disorder Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000768577 COSM1589350 COSM986573 rs1252185897 RCV001091985 |
245 | R>* | Variant assessed as Somatic; HIGH impact. endometrium Dystonia 25 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1598444275 RCV000803102 |
277 | F>missing | Dystonic disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398122924 CA130669 RCV000033102 |
293 | S>* | Dystonia 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753163815 RCV001053418 |
311 | A>T | Dystonic disorder [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1483610763 RCV001042773 |
337 | T>M | Dystonic disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs142792291 RCV003441915 CA8894263 RCV000547878 |
340 | G>S | Variant assessed as Somatic; MODERATE impact. Dystonic disorder [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1223237925 | 2 | G>A | No | TOPMed | |
| rs146600265 | 2 | G>R | No |
ESP ExAC |
|
| rs946222846 | 3 | C>F | No | Ensembl | |
| rs1051783262 | 6 | G>C | No | Ensembl | |
| rs1379727963 | 7 | N>D | No | gnomAD | |
| rs769324807 | 7 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs904159271 | 9 | K>R | No | TOPMed | |
| rs775074451 | 10 | T>M | No |
ExAC gnomAD |
|
| rs141463280 | 11 | T>M | No |
ESP TOPMed gnomAD |
|
| rs2143096499 | 12 | E>V | No | Ensembl | |
| rs199761315 | 15 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_069329 rs1039372506 |
16 | V>F | No |
UniProt TOPMed dbSNP gnomAD |
|
| rs145170970 | 17 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2032883254 | 20 | E>Q | No | Ensembl | |
| rs750928118 | 21 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM5681720 | 23 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1283520769 | 25 | N>H | No | gnomAD | |
| rs2032884055 | 26 | K>R | No | gnomAD | |
| COSM6148264 | 27 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1267733344 | 29 | E>D | No | gnomAD | |
| rs2032884289 | 29 | E>Q | No | Ensembl | |
| rs998751374 | 33 | Q>* | No | TOPMed | |
| rs998751374 | 33 | Q>E | No | TOPMed | |
| rs1176630313 | 34 | K>E | No |
TOPMed gnomAD |
|
| rs1193569056 | 34 | K>T | No | gnomAD | |
| TCGA novel | 36 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 36 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2032884861 | 38 | A>T | No | gnomAD | |
| rs2032885238 | 40 | K>R | No | Ensembl | |
| rs2032885353 | 41 | A>T | No | Ensembl | |
| rs1598429193 | 42 | T>P | No | Ensembl | |
| rs1598429200 | 43 | H>P | No | Ensembl | |
| TCGA novel | 48 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 50 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760063102 | 51 | G>A | No | TOPMed | |
| rs760063102 | 51 | G>D | No | TOPMed | |
| rs1277310603 | 52 | E>V | No | gnomAD | |
| rs1598429548 | 53 | S>A | No | Ensembl | |
| rs2032904259 | 54 | G>R | No | Ensembl | |
| rs1598429563 | 55 | K>E | No | Ensembl | |
| rs2143101919 | 62 | M>I | No | Ensembl | |
| TCGA novel | 65 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768189751 CA16621716 RCV000487898 |
66 | H>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3370995 COSM3370996 |
67 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1224388335 | 68 | N>S | No |
TOPMed gnomAD |
|
| rs2143102101 | 71 | N>S | No | Ensembl | |
|
COSM6148262 COSM6148263 |
72 | P>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs945843083 | 72 | P>A | No |
TOPMed gnomAD |
|
| rs945843083 | 72 | P>S | No |
TOPMed gnomAD |
|
| rs945843083 | 72 | P>T | No |
TOPMed gnomAD |
|
|
RCV000761622 rs1568010705 |
73 | E>* | No |
ClinVar Ensembl dbSNP |
|
| rs2032936926 | 75 | K>N | No |
TOPMed gnomAD |
|
|
rs1057519098 CA16043733 RCV000416229 |
78 | K>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1165701766 | 81 | D>E | No |
TOPMed gnomAD |
|
| rs1385987861 | 83 | R>W | No | gnomAD | |
| rs754431169 | 84 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs754431169 | 84 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs1264367697 | 84 | K>R | No | gnomAD | |
| TCGA novel | 87 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3370998 COSM3370997 rs1487090571 |
88 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1189839787 | 90 | I>M | No |
TOPMed gnomAD |
|
| rs778473594 | 97 | M>L | No |
ExAC gnomAD |
|
| rs1027050665 | 98 | S>N | No | Ensembl | |
| rs2032945452 | 99 | T>A | No | TOPMed | |
| rs1310051257 | 99 | T>I | No | gnomAD | |
| rs1375826103 | 100 | I>V | No | gnomAD | |
| rs752199100 | 101 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 104 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1324687 | 104 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1322637092 | 104 | V>I | No |
TOPMed gnomAD |
|
| rs1393424761 | 111 | N>S | No |
TOPMed gnomAD |
|
| rs376063491 | 112 | Q>* | No |
ESP ExAC |
|
| rs2032946666 | 113 | F>C | No | TOPMed | |
| rs746368758 | 113 | F>L | No |
ExAC gnomAD |
|
|
COSM1589353 COSM180903 |
114 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775615136 | 117 | Y>H | No |
ExAC gnomAD |
|
| rs1169214150 | 122 | A>G | No | TOPMed | |
| TCGA novel | 123 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1398086984 | 123 | P>S | No |
TOPMed gnomAD |
|
|
COSM4918871 COSM4918872 |
126 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 128 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 128 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766162763 | 130 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs2032948295 | 131 | Q>R | No | TOPMed | |
|
COSM275316 COSM1589352 |
133 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765104236 | 135 | D>G | No |
ExAC gnomAD |
|
| rs1343457822 | 135 | D>H | No | gnomAD | |
| rs1348193134 | 139 | K>Q | No | gnomAD | |
| TCGA novel | 147 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001311894 rs2035203196 |
149 | C>R | No |
ClinVar Ensembl dbSNP |
|
| rs1468698312 | 159 | I>V | No |
TOPMed gnomAD |
|
| rs1231709095 | 170 | D>N | No | TOPMed | |
| rs773047497 | 172 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs773047497 | 172 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1416369480 | 177 | Y>C | No | gnomAD | |
| TCGA novel | 181 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036217861 | 184 | L>V | No | gnomAD | |
| rs1481429727 | 189 | V>L | No |
TOPMed gnomAD |
|
| rs2036218298 | 192 | S>C | No | Ensembl | |
| rs1209224135 | 198 | R>Q | No |
TOPMed gnomAD |
|
|
COSM708441 COSM1646866 |
206 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868244399 | 207 | H>N | No | Ensembl | |
| rs916010996 | 208 | M>I | No |
TOPMed gnomAD |
|
| rs2036282237 | 215 | R>K | No | Ensembl | |
| rs890723233 | 216 | D>N | No |
TOPMed gnomAD |
|
|
COSM3524218 COSM3524219 |
219 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM986569 COSM1651299 |
221 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 224 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1263027375 | 225 | F>I | No | gnomAD | |
| rs897686248 | 231 | I>V | No | TOPMed | |
| COSM1303578 | 234 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774061970 | 238 | S>N | No |
ExAC gnomAD |
|
| rs2036319182 | 242 | M>L | No |
TOPMed gnomAD |
|
| rs1176437871 | 243 | V>L | No | gnomAD | |
| rs373893245 | 245 | R>L | No |
ESP TOPMed gnomAD |
|
|
COSM3422051 COSM3422052 |
245 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1473539410 | 248 | N>D | No |
TOPMed gnomAD |
|
| rs1311397788 | 249 | N>T | No |
TOPMed gnomAD |
|
|
CA401932500 RCV000513006 rs1555616088 |
255 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs917717259 | 258 | D>H | No | TOPMed | |
| rs917717259 | 258 | D>N | No | TOPMed | |
| rs1316732461 | 262 | S>N | No | Ensembl | |
| rs2036415662 | 268 | W>C | No | Ensembl | |
| rs768760393 | 270 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs200584203 | 272 | I>V | No | 1000Genomes | |
|
COSM1680240 COSM1680239 |
273 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM986575 COSM1589349 |
273 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747652953 | 274 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs760388157 | 283 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs772856104 | 283 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs2036416543 | 285 | A>V | No | TOPMed | |
|
COSM4071285 COSM4071284 |
288 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1208505997 | 291 | G>E | No |
TOPMed gnomAD |
|
| rs1469635220 | 294 | K>N | No | gnomAD | |
| rs1279259757 | 294 | K>R | No | gnomAD | |
| rs777031469 | 295 | I>L | No |
ExAC gnomAD |
|
| rs1240283600 | 297 | D>E | No | gnomAD | |
| rs2036417241 | 297 | D>H | No | TOPMed | |
| rs1212228438 | 297 | D>V | No | gnomAD | |
| rs1262288566 | 298 | Y>C | No | Ensembl | |
| rs1475151696 | 300 | P>Q | No | gnomAD | |
|
COSM1522655 COSM2883501 |
301 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1392275756 | 303 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 306 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036417854 | 309 | E>A | No | TOPMed | |
| rs201861102 | 310 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs770612979 | 312 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 313 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs3894082 | 316 | G>E | No | Ensembl | |
| rs2036538944 | 323 | R>K | No | TOPMed | |
| rs2036539134 | 328 | I>F | No | TOPMed | |
|
COSM6148258 COSM6148259 |
328 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765529658 | 329 | R>Q | No |
ExAC gnomAD |
|
| TCGA novel | 329 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372185532 | 331 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs147199359 | 334 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2036675523 | 336 | S>I | No | TOPMed | |
| COSM74771 | 336 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1589348 COSM986577 |
337 | T>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs142792291 | 340 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs752479000 | 341 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2036676370 | 342 | G>D | No | Ensembl | |
| rs777527807 | 342 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs751514673 | 344 | H>D | No |
ExAC gnomAD |
|
| rs1598455200 | 347 | Y>S | No | Ensembl | |
| rs2036676588 | 348 | P>A | No | Ensembl | |
| rs756685510 | 348 | P>L | No |
ExAC gnomAD |
|
| rs756685510 | 348 | P>Q | No |
ExAC gnomAD |
|
| rs2143948321 | 349 | H>R | No | Ensembl | |
| TCGA novel | 351 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1598455219 | 351 | T>P | No | Ensembl | |
| rs1323870276 | 353 | A>T | No | TOPMed | |
|
rs1064794741 COSM1471135 RCV000484326 CA16620660 |
354 | V>M | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs749574124 | 357 | E>A | No |
ExAC gnomAD |
|
| rs1225290405 | 359 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs1297200293 COSM4071288 COSM4071287 |
360 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs774941073 | 360 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs774941073 | 360 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2036678026 | 361 | R>K | No | TOPMed | |
| TCGA novel | 362 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772266110 | 365 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773475808 | 367 | R>C | No |
ExAC gnomAD |
|
| rs1258870724 | 367 | R>H | No |
TOPMed gnomAD |
|
| rs760922997 | 368 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1190371924 | 369 | I>V | No | gnomAD | |
| rs766473372 | 372 | R>Q | No |
ExAC gnomAD |
|
| rs1449657115 | 373 | M>T | No | gnomAD | |
| rs1465354785 | 376 | K>Q | No | gnomAD | |
| rs201556366 | 377 | Q>K | No | Ensembl | |
| rs762600344 | 378 | Y>C | No |
ExAC gnomAD |
|
| rs762600344 | 378 | Y>F | No |
ExAC gnomAD |
|
| rs2036679779 | 379 | E>Q | No | TOPMed | |
| rs144614851 | 381 | L>F | No |
ESP ExAC TOPMed gnomAD |
1 associated diseases with P38405
[MIM: 615073]: Dystonia 25 (DYT25)
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P38405
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P38405 | |||
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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating dopamine receptor signaling pathway | An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor, and ending with the regulation of a downstream cellular process. |
| sensory perception of chemical stimulus | The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P04896 | GNAS | Guanine nucleotide-binding protein G(s) subunit alpha isoforms short | Bos taurus (Bovine) | PR |
| 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 |
| P29992 | GNA11 | Guanine nucleotide-binding protein subunit alpha-11 | Homo sapiens (Human) | SS |
| P30679 | GNA15 | Guanine nucleotide-binding protein subunit alpha-15 | Homo sapiens (Human) | SS |
| O95837 | GNA14 | Guanine nucleotide-binding protein subunit alpha-14 | Homo sapiens (Human) | SS |
| P50148 | GNAQ | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
| A8MTJ3 | GNAT3 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
| P19087 | GNAT2 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
| P11488 | GNAT1 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
| P04899 | GNAI2 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
| P08754 | GNAI3 | Guanine nucleotide-binding protein G | Homo sapiens (Human) | SS |
| P19086 | GNAZ | 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 |
| P29797 | GNAS | Guanine nucleotide-binding protein G(s) subunit alpha | Sus scrofa (Pig) | PR |
| P93564 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Solanum tuberosum (Potato) | SS |
| Q63803 | Gnas | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
| P38406 | Gnal | Guanine nucleotide-binding protein G | 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 |
| MGCLGGNSKT | TEDQGVDEKE | RREANKKIEK | QLQKERLAYK | ATHRLLLLGA | GESGKSTIVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QMRILHVNGF | NPEEKKQKIL | DIRKNVKDAI | VTIVSAMSTI | IPPVPLANPE | NQFRSDYIKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IAPITDFEYS | QEFFDHVKKL | WDDEGVKACF | ERSNEYQLID | CAQYFLERID | SVSLVDYTPT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DQDLLRCRVL | TSGIFETRFQ | VDKVNFHMFD | VGGQRDERRK | WIQCFNDVTA | IIYVAACSSY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NMVIREDNNT | NRLRESLDLF | ESIWNNRWLR | TISIILFLNK | QDMLAEKVLA | GKSKIEDYFP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EYANYTVPED | ATPDAGEDPK | VTRAKFFIRD | LFLRISTATG | DGKHYCYPHF | TCAVDTENIR |
| 370 | 380 | ||||
| RVFNDCRDII | QRMHLKQYEL | L |