P09471
SS
Gene name |
GNAO1 |
Protein name |
Guanine nucleotide-binding protein G |
Names |
o subunit alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2775 |
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 |
185-348 (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
36 structures for P09471
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6FUF | X-ray | 312 A | B | 18-354 | PDB |
| 6G79 | EM | 378 A | PDB | ||
| 6K41 | EM | 290 A | A | 1-354 | PDB |
| 6OIK | EM | 360 A | A | 1-354 | PDB |
| 6WWZ | EM | 334 A | PDB | ||
| 7D76 | EM | 310 A | A | 4-354 | PDB |
| 7D77 | EM | 290 A | A | 4-354 | PDB |
| 7EJ0 | EM | 320 A | A | 1-354 | PDB |
| 7EJ8 | EM | 300 A | A | 1-354 | PDB |
| 7EJA | EM | 360 A | A | 1-354 | PDB |
| 7EJK | EM | 340 A | A | 1-354 | PDB |
| 7QVM | EM | 325 A | PDB | ||
| 7T8X | EM | 321 A | B | 1-354 | PDB |
| 7T90 | EM | 332 A | B | 1-354 | PDB |
| 7T94 | EM | 316 A | B | 1-354 | PDB |
| 7T96 | EM | 322 A | B | 1-354 | PDB |
| 7W2Z | EM | 280 A | A | 182-354 | PDB |
| 7W6P | EM | 347 A | A | 1-354 | PDB |
| 7W7E | EM | 340 A | A | 1-354 | PDB |
| 7XJJ | EM | 330 A | PDB | ||
| 7Y24 | EM | 325 A | PDB | ||
| 8DZQ | EM | 282 A | B | 1-354 | PDB |
| 8E9X | EM | 270 A | B | 136-354 | PDB |
| 8FN1 | EM | 288 A | PDB | ||
| 8HPT | EM | 339 A | PDB | ||
| 8HQC | EM | 389 A | PDB | ||
| 8I95 | EM | 288 A | PDB | ||
| 8I97 | EM | 319 A | PDB | ||
| 8I9L | EM | 318 A | PDB | ||
| 8I9S | EM | 326 A | PDB | ||
| 8IA2 | EM | 321 A | PDB | ||
| 8IEC | EM | 318 A | PDB | ||
| 8IED | EM | 333 A | PDB | ||
| 8J6D | EM | 310 A | PDB | ||
| 8JZZ | EM | 331 A | PDB | ||
| AF-P09471-F1 | Predicted | AlphaFoldDB |
261 variants for P09471
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002562424 rs2036182701 RCV001217249 |
20 | E>K | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
TCGA novel RCV002028794 rs2143270433 |
26 | D>N | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
rs2143270471 RCV001365172 |
30 | A>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001241780 CA396128552 RCV000623353 rs1555499769 |
39 | L>P | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886041766 RCV002519057 RCV000307507 CA10603414 |
40 | G>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003610 CA10605777 RCV000824830 rs886041715 VAR_075416 RCV000486165 RCV001580368 RCV000702017 |
40 | G>R | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 DEE17 and NEDIM [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP gnomAD ClinGen |
|
RCV000714660 RCV000714659 rs886041766 |
40 | G>V | Neurodevelopmental disorder with involuntary movements Developmental and epileptic encephalopathy, 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000403784 RCV000688464 CA10603535 rs886041715 VAR_087220 |
40 | G>W | Early infantile epileptic encephalopathy with suppression bursts found in a patient with intractable early-onset epilepsy; likely pathogenic [ClinVar, UniProt] | Yes |
ClinGen ClinVar dbSNP gnomAD UniProt |
|
rs2036187623 RCV001315691 |
41 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001877856 RCV002246570 rs2143272046 |
42 | G>R | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs869312939 RCV001378535 RCV000210693 CA358207 |
45 | G>R | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2143272162 RCV001580365 |
46 | K>E | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001823038 rs2143272172 |
46 | K>N | Neurodevelopmental disorder with involuntary movements [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_079278 | 47 | S>G | NEDIM [UniProt] | Yes | UniProt |
|
rs1596787821 RCV002272357 RCV000794940 |
47 | S>N | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003458445 CA396128621 RCV002524192 RCV000499510 rs1555499800 |
48 | T>I | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989602 rs1555499800 RCV002549730 |
48 | T>N | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001769078 rs763223472 RCV002304235 |
49 | I>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2143272241 RCV001785369 |
51 | K>E | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
VAR_087222 rs2143272260 RCV002300618 RCV001889307 |
52 | Q>R | Early infantile epileptic encephalopathy with suppression bursts DEE17; loss of GTP binding; decreased interaction with RGS19; decreased interaction with heterodimers formed by GNB1 and GNG3; strongly decreased localization to cell membrane [ClinVar, UniProt] | Yes |
ClinVar Ensembl dbSNP UniProt |
| VAR_079279 | 56 | I>T | NEDIM [UniProt] | Yes | UniProt |
|
rs940833242 CA282116260 RCV000636350 |
63 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001869809 rs1263683170 RCV001823341 |
78 | I>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001502450 rs1301302019 |
86 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1555504233 RCV000519172 CA396128175 RCV001314766 |
88 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002060950 rs1309389793 RCV002318267 |
92 | G>S | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002568490 RCV001576518 rs1341492901 |
95 | Y>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001797128 RCV002440453 rs559674838 RCV001252009 RCV000691846 |
96 | G>S | Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001732141 RCV001365310 rs778669032 |
97 | D>G | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001981789 rs375429245 |
104 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs978834925 RCV001232778 |
106 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000636339 COSM971633 rs956210011 CA281422572 COSM971634 |
113 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2143647007 RCV001522602 |
115 | E>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000818944 RCV002318219 rs1567485534 |
118 | E>D | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA8063744 rs200539902 RCV000460108 |
129 | M>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200127285 RCV000814095 RCV002363114 |
130 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001361312 rs539662922 |
130 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs374115337 RCV000820996 |
133 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000797207 RCV003130045 rs374115337 RCV002352336 |
133 | G>S | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000467995 rs759081912 CA8063750 |
138 | Q>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001979149 rs1245351159 |
138 | Q>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM1302032 COSM1302033 CA8063753 rs758424351 RCV000549440 |
142 | N>S | Early infantile epileptic encephalopathy with suppression bursts ovary Variant assessed as Somatic; MODERATE impact. urinary_tract [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777414554 RCV001973220 |
143 | R>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001879874 rs777414554 RCV001253688 RCV003365295 RCV003222278 |
143 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. Developmental and epileptic encephalopathy, 17 Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2143647269 RCV002154993 |
143 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001970896 rs757388426 |
145 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002249751 rs2037660713 RCV001169954 RCV003339523 RCV003259134 |
150 | N>H | Neurodevelopmental disorder with involuntary movements Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596867702 RCV000989603 |
151 | D>N | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2143660403 RCV001580367 |
157 | L>P | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001869943 rs2143660444 RCV002503376 |
160 | L>P | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs760544764 RCV001870384 RCV003407846 |
163 | I>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229411 rs375960435 RCV001574238 |
166 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2037724346 RCV001809279 |
167 | D>H | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs587777055 CA214447 RCV002281559 VAR_070864 RCV000056406 |
174 | D>G | Neurodevelopmental disorder with involuntary movements Developmental and epileptic encephalopathy, 17 DEE17; somatic mosaic mutation; the mutant protein has some abnormal cytoplasmic localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002318276 RCV002534983 rs1567488305 |
174 | D>N | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2037724743 RCV001224759 |
176 | L>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001324264 rs2037724762 RCV001587346 |
177 | R>* | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000623572 CA395951624 rs1555507383 |
184 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001889947 rs2143660738 |
185 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000056407 rs587777056 CA214448 |
191 | T>missing | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_070865 | 191 | T>del | DEE17; the mutant protein accumulates in the cytoplasmic compartment; increased basal calcium-current density compared to wild-type [UniProt] | Yes | UniProt |
|
RCV001949659 rs2143664797 |
199 | L>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001994745 rs2143664808 |
201 | D>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000656551 rs1297388989 RCV001756114 RCV001731851 |
202 | V>I | GNAO1-Related Condition Neurodevelopmental disorder with involuntary movements [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs587777057 RCV000989604 COSM191880 VAR_070866 COSM191879 |
203 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium Developmental and epileptic encephalopathy, 17 DEE17; the mutant protein localizes normally to the cell periphery [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
cosmic curated NCI-TCGA Cosmic UniProt Ensembl NCI-TCGA dbSNP ClinVar |
|
rs2143664861 RCV002250020 |
204 | G>R | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002249062 rs2143664881 |
205 | Q>P | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002002430 rs1297225571 |
206 | R>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1057518440 RCV002250021 |
207 | S>F | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs886039494 COSM1166012 COSM1166011 RCV000475848 RCV001003612 RCV001775107 RCV003401217 VAR_077337 RCV000490628 RCV000256155 RCV000622320 CA10588619 |
209 | R>C | Early infantile epileptic encephalopathy with suppression bursts pancreas Movement disorder large_intestine GNAO1-Related Condition Neurodevelopmental disorder with involuntary movements Developmental and epileptic encephalopathy, 17 Inborn genetic diseases DEE17 and NEDIM [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_079280 CA395952199 rs886039494 RCV000490630 |
209 | R>G | Neurodevelopmental disorder with involuntary movements NEDIM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA204658 RCV000255659 RCV000490633 RCV001065368 VAR_079281 rs797044878 RCV000190691 |
209 | R>H | Early infantile epileptic encephalopathy with suppression bursts Neurodevelopmental disorder with involuntary movements Inborn genetic diseases NEDIM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA395952201 RCV000655933 VAR_079282 RCV000699557 rs797044878 |
209 | R>L | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 NEDIM [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
COSM971643 RCV000498979 COSM971644 RCV000806364 CA395952258 rs1555507477 |
217 | E>K | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2037744218 RCV001222769 |
219 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555507479 RCV000626015 CA395952288 |
221 | A>D | Neurodevelopmental disorder with involuntary movements [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_077338 rs797045599 |
227 | A>V | NEDIM [UniProt] | Yes |
UniProt Ensembl dbSNP |
|
RCV001318085 rs546569747 RCV001580366 RCV003326148 |
229 | S>R | Developmental and epileptic encephalopathy, 17 Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001580371 rs1057518678 RCV000657944 CA16043691 RCV000414910 |
231 | Y>C | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003613 CA16620213 rs1064794533 RCV000477989 RCV001851189 RCV000762965 |
237 | E>K | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001089718 rs2037919953 |
244 | M>K | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000490634 CA395954607 rs1114167431 VAR_079283 |
246 | E>G | Neurodevelopmental disorder with involuntary movements NEDIM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000490631 RCV000254701 CA204886 RCV001857676 RCV001808530 rs797044951 RCV000190803 RCV001814097 VAR_077339 RCV001580372 |
246 | E>K | Early infantile epileptic encephalopathy with suppression bursts Neurodevelopmental disorder with involuntary movements Developmental and epileptic encephalopathy, 17 Developmental delay Inborn genetic diseases NEDIM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs797044951 RCV000850558 |
246 | E>Q | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1114167431 RCV002249063 |
246 | E>V | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000818232 rs1357923280 |
249 | M>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002246525 RCV001808238 rs2143699618 |
250 | L>F | Neurodevelopmental disorder with involuntary movements Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM281410 rs2037920339 RCV001239089 |
252 | D>N | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs2037920369 RCV001315820 |
254 | I>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689860 rs1567496374 |
257 | N>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034087 rs2037920534 |
265 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2143699686 RCV001580369 |
270 | N>K | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596881854 RCV000792659 |
270 | N>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555508311 CA395954783 RCV002281576 RCV000525427 |
271 | K>E | Early infantile epileptic encephalopathy with suppression bursts Neurodevelopmental disorder with involuntary movements [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA395954788 RCV001941166 RCV000636427 rs758779535 |
271 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD ClinGen |
|
RCV001068363 rs2037920694 |
273 | D>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2143699701 RCV001580370 |
273 | D>Y | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2037920791 RCV001065180 |
278 | K>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070867 rs587777054 CA144899 RCV000056405 |
279 | I>N | Developmental and epileptic encephalopathy, 17 DEE17; the mutant protein has some abnormal cytoplasmic localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001730048 rs2143699753 |
282 | S>P | Neurodevelopmental disorder with involuntary movements [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA395954878 rs1555508316 RCV000590935 |
284 | L>S | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1386785579 RCV002482009 RCV001056053 |
286 | I>F | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001958371 rs2143699786 |
288 | F>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1064795384 RCV001851218 RCV000480846 CA16620214 |
291 | Y>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054911 RCV001759996 rs371362351 |
295 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235993 rs2037953814 |
298 | E>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2143704815 RCV001360567 |
313 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001252010 RCV003492236 rs2037954227 |
325 | C>G | Developmental and epileptic encephalopathy, 17 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002544059 RCV001754808 rs2037954591 |
339 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001972962 rs2143705016 RCV002274241 |
344 | I>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266674 rs2037954707 |
344 | I>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003229063 rs2143705059 COSM1378459 RCV001904169 |
349 | R>W | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| rs2143270279 | 10 | R>K | No | Ensembl | |
| rs1380348729 | 11 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
CA396128370 rs1555499768 RCV000584858 |
13 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 14 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3969597 COSM3969598 |
28 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036182884 | 28 | I>T | No | Ensembl | |
| rs2036182956 | 32 | K>E | No | TOPMed | |
| rs1567431805 | 34 | V>L | No | Ensembl | |
| rs2036183060 | 36 | L>* | No | Ensembl | |
| rs1284492592 | 36 | L>F | No | TOPMed | |
|
RCV002253122 rs2143270534 |
39 | L>F | No |
ClinVar Ensembl dbSNP |
|
| rs2036187623 | 41 | A>S | No | gnomAD | |
| TCGA novel | 43 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036187686 | 43 | E>Q | No | TOPMed | |
| rs763223472 | 49 | I>F | No |
ExAC gnomAD |
|
| VAR_087221 | 52 | Q>P | found in a patient with intractable early-onset epilepsy; likely pathogenic; loss of GTP binding; decreased interaction with RGS19; decreased interaction with heterodimers formed by GNB1 and GNG3; strongly decreased localization to cell membrane [UniProt] | No | UniProt |
|
RCV001546803 rs2143272295 |
53 | M>K | No |
ClinVar Ensembl dbSNP |
|
| rs557932562 | 66 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs77558236 | 69 | Y>* | No | Ensembl | |
| rs371330886 | 72 | V>I | No |
ESP ExAC gnomAD |
|
| rs2037057993 | 75 | S>N | No | Ensembl | |
| TCGA novel | 75 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596836465 | 77 | T>P | No | Ensembl | |
| rs1263683170 | 78 | I>V | No | TOPMed | |
| rs1198213656 | 82 | A>T | No | Ensembl | |
| rs903629384 | 85 | V>I | No |
TOPMed gnomAD |
|
| rs767115578 | 86 | R>W | No |
ExAC TOPMed gnomAD |
|
|
RCV000996275 rs1221678868 |
88 | M>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1221678868 | 88 | M>T | No |
TOPMed gnomAD |
|
| rs201728736 | 89 | D>E | No |
TOPMed gnomAD |
|
|
rs1271540719 COSM471836 COSM471837 |
92 | G>D | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2037058607 | 93 | I>V | No | TOPMed | |
|
COSM1742385 rs2037058679 COSM1742384 |
94 | E>K | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs189990922 | 96 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs189990922 | 96 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778669032 | 97 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs2143521230 | 99 | E>D | No | Ensembl | |
| rs372103298 | 103 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs777981381 | 107 | V>L | No |
ExAC gnomAD |
|
| rs1355385627 | 108 | C>Y | No | gnomAD | |
| rs2037659126 | 109 | D>V | No | Ensembl | |
| rs2037659241 | 112 | S>G | No |
TOPMed gnomAD |
|
| TCGA novel | 120 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2037659527 | 120 | F>V | No | TOPMed | |
| rs776163992 | 123 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1338335814 | 126 | S>C | No | Ensembl | |
|
COSM1378452 COSM1378453 rs1469972348 |
127 | A>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2037659641 | 127 | A>S | No | TOPMed | |
| rs2037659641 | 127 | A>T | No | TOPMed | |
| rs1344023119 | 128 | M>I | No |
TOPMed gnomAD |
|
|
COSM4061328 COSM4061329 |
128 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2037659789 | 129 | M>I | No | TOPMed | |
| rs539662922 | 130 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1293266907 | 132 | W>C | No | gnomAD | |
|
COSM1128926 COSM1128925 |
132 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs921565958 | 134 | D>N | No |
TOPMed gnomAD |
|
| rs2037660138 | 135 | S>P | No | TOPMed | |
| rs1464565646 | 139 | E>K | No |
TOPMed gnomAD |
|
| rs1273554289 | 142 | N>H | No | gnomAD | |
| rs758424351 | 142 | N>T | No |
ExAC TOPMed gnomAD |
|
|
COSM340450 COSM340451 |
145 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1378454 COSM1378455 |
145 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2037660606 | 148 | Q>P | No | TOPMed | |
| rs1348698138 | 153 | A>T | No |
TOPMed gnomAD |
|
| rs1056430816 | 154 | K>Q | No | Ensembl | |
| rs1454558144 | 160 | L>V | No | gnomAD | |
| rs1596871381 | 161 | D>E | No | Ensembl | |
|
COSM435399 COSM435398 |
161 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1240134140 | 162 | R>Q | No | Ensembl | |
| rs2143660474 | 162 | R>W | No | Ensembl | |
| rs1182604320 | 164 | G>V | No | Ensembl | |
| rs1029083149 | 164 | G>W | No | gnomAD | |
| TCGA novel | 165 | A>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1159636167 | 165 | A>P | No | gnomAD | |
| TCGA novel | 165 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2037724184 | 165 | A>V | No | Ensembl | |
| rs2037724346 | 167 | D>N | No | TOPMed | |
| rs2143660570 | 169 | Q>E | No | Ensembl | |
| rs762554588 | 169 | Q>H | No |
ExAC gnomAD |
|
| rs763888697 | 171 | T>N | No |
ExAC gnomAD |
|
|
RCV002247866 rs2143660643 |
173 | Q>* | No |
ClinVar Ensembl dbSNP |
|
|
RCV001003611 rs1596871452 |
182 | T>I | No |
ClinVar Ensembl dbSNP |
|
|
COSM1302035 COSM1302034 |
185 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 186 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1331690209 | 186 | V>I | No |
TOPMed gnomAD |
|
| rs1596871479 | 194 | N>T | No | Ensembl | |
| rs2037725290 | 197 | F>C | No | gnomAD | |
| rs2037743524 | 199 | L>V | No | gnomAD | |
| rs567136805 | 201 | D>H | No | 1000Genomes | |
| rs1297388989 | 202 | V>L | No |
TOPMed gnomAD |
|
|
RCV003238503 rs2143664859 |
203 | G>E | No |
ClinVar Ensembl dbSNP |
|
| rs1297225571 | 206 | R>Q | No | gnomAD | |
|
rs1057518440 RCV000414640 CA16043017 |
207 | S>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM4851395 COSM4851394 |
208 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2143664956 | 212 | W>C | No | Ensembl | |
|
COSM971641 COSM971640 |
216 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2143664985 RCV002224941 |
217 | E>D | No |
ClinVar Ensembl dbSNP |
|
| rs12721461 | 219 | V>A | No | Ensembl | |
|
RCV000488348 rs1064797211 CA16621691 |
226 | V>missing | No |
ClinGen ClinVar dbSNP |
|
|
COSM191881 COSM191882 |
227 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA395952336 rs1085307932 RCV000489921 |
228 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs759775512 | 230 | G>D | No |
ExAC gnomAD |
|
| rs2037744620 | 230 | G>S | No | Ensembl | |
| rs1163621468 | 240 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2037744867 | 240 | T>S | No | TOPMed | |
| rs763053362 | 241 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1456274473 | 241 | T>M | No |
TOPMed gnomAD |
|
|
RCV000488949 rs1085307894 CA395954565 |
242 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs760862770 | 245 | H>R | No |
ExAC gnomAD |
|
| TCGA novel | 245 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2143699590 RCV002276030 |
246 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs755484788 | 251 | F>L | No |
ExAC gnomAD |
|
| TCGA novel | 253 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM971652 | 259 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs112085622 | 264 | S>P | No | Ensembl | |
| TCGA novel | 264 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 265 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2037920882 | 280 | K>R | No | TOPMed | |
| rs779593919 | 283 | P>S | No |
ExAC gnomAD |
|
| rs1386785579 | 286 | I>V | No | gnomAD | |
| rs768674142 | 289 | P>A | No |
ExAC gnomAD |
|
| TCGA novel | 290 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2037921244 | 292 | T>I | No | gnomAD | |
| rs1219437188 | 294 | P>S | No | gnomAD | |
| rs754547263 | 296 | T>I | No |
ExAC gnomAD |
|
| rs1596883621 | 296 | T>P | No | Ensembl | |
| TCGA novel | 300 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748093621 | 300 | A>T | No |
ExAC gnomAD |
|
|
RCV001507300 rs2143704776 RCV003490262 |
302 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs2037953966 | 306 | A>E | No | TOPMed | |
| rs57295392 | 308 | F>L | No | Ensembl | |
| rs771141469 | 310 | S>N | No |
ExAC TOPMed |
|
| TCGA novel | 312 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1191986177 | 316 | N>S | No |
TOPMed gnomAD |
|
| rs1191986177 | 316 | N>T | No |
TOPMed gnomAD |
|
| COSM3510366 | 322 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1383543515 | 323 | M>V | No |
TOPMed gnomAD |
|
| rs1470946386 | 327 | T>P | No | gnomAD | |
|
CA10581328 rs878853051 RCV000224477 |
328 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2037954431 | 334 | V>M | No | gnomAD | |
| COSM971655 | 337 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM971657 | 337 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2037954681 | 341 | D>N | No | gnomAD | |
| rs372737966 | 346 | N>I | No |
ESP TOPMed |
|
| rs2037954783 | 350 | G>D | No | TOPMed | |
| COSM6037855 | 352 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3969600 | 354 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
2 associated diseases with P09471
[MIM: 615473]: Developmental and epileptic encephalopathy 17 (DEE17)
A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617493]: Neurodevelopmental disorder with involuntary movements (NEDIM)
A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P09471
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P09471 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| corticotropin-releasing hormone receptor 1 binding | Binding to a corticotropin-releasing hormone receptor 1 (CRHR1). CRHR1 is the major subtype in the pituitary corticotroph, and mediates the stimulatory actions of corticotropin-releasing hormone on corticotropin hormone secretion. CRHR1 are also located in cortical areas of the brain, cerebellum and limbic system. |
| G protein-coupled serotonin receptor binding | Binding to a metabotropic serotonin 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. |
| mu-type opioid receptor binding | Binding to a mu-type opioid receptor. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| 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). |
| dopamine receptor signaling pathway | The series of molecular signals generated as a consequence of a dopamine receptor binding to one of its physiological ligands. |
| locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| negative regulation of insulin secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. |
| regulation of heart contraction | Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| vesicle docking involved in exocytosis | The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis. |
61 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P63097 | GNAI1 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
| P0C7Q4 | GNAT3 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
| P04696 | GNAT2 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
| P04695 | GNAT1 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
| P08239 | GNAO1 | Guanine nucleotide-binding protein G | Bos taurus (Bovine) | SS |
| P50147 | GNAI2 | Guanine nucleotide-binding protein G | Gallus gallus (Chicken) | SS |
| P50146 | GNAI1 | Guanine nucleotide-binding protein G | Gallus gallus (Chicken) | SS |
| P20353 | Galphai | G protein alpha i subunit | Drosophila melanogaster (Fruit fly) | SS |
| P25157 | cta | Guanine nucleotide-binding protein subunit alpha homolog | Drosophila melanogaster (Fruit fly) | SS |
| P16378 | Galphao | G protein alpha o subunit | Drosophila melanogaster (Fruit fly) | 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 |
| 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 |
| P38405 | GNAL | 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 |
| Q9DC51 | Gnai3 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| P27600 | Gna12 | Guanine nucleotide-binding protein subunit alpha-12 | Mus musculus (Mouse) | SS |
| P20612 | Gnat1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| P27601 | Gna13 | Guanine nucleotide-binding protein subunit alpha-13 | Mus musculus (Mouse) | SS |
| Q3V3I2 | Gnat3 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| O70443 | Gnaz | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| P50149 | Gnat2 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| P08752 | Gnai2 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| B2RSH2 | Gnai1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| P18872 | Gnao1 | Guanine nucleotide-binding protein G | Mus musculus (Mouse) | SS |
| P93564 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Solanum tuberosum (Potato) | SS |
| Q63210 | Gna12 | Guanine nucleotide-binding protein subunit alpha-12 | Rattus norvegicus (Rat) | SS |
| P19627 | Gnaz | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
| P29348 | Gnat3 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
| P04897 | Gnai2 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
| P08753 | Gnai3 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
| Q6Q7Y5 | Gna13 | Guanine nucleotide-binding protein subunit alpha-13 | Rattus norvegicus (Rat) | SS |
| P59215 | Gnao1 | Guanine nucleotide-binding protein G | Rattus norvegicus (Rat) | SS |
| Q0DJ33 | GPA1 | Guanine nucleotide-binding protein alpha-1 subunit | Oryza sativa subsp. japonica (Rice) | SS |
| O76584 | gpa-11 | Guanine nucleotide-binding protein alpha-11 subunit | Caenorhabditis elegans | SS |
| Q93743 | gpa-6 | Guanine nucleotide-binding protein alpha-6 subunit | Caenorhabditis elegans | SS |
| Q20907 | gpa-8 | Guanine nucleotide-binding protein alpha-8 subunit | Caenorhabditis elegans | PR |
| P91907 | gpa-15 | Guanine nucleotide-binding protein alpha-15 subunit | Caenorhabditis elegans | SS |
| Q21917 | gpa-7 | Guanine nucleotide-binding protein alpha-7 subunit | Caenorhabditis elegans | SS |
| Q9BIG5 | gpa-4 | Guanine nucleotide-binding protein alpha-4 subunit | Caenorhabditis elegans | SS |
| Q9N2V6 | gpa-16 | Guanine nucleotide-binding protein alpha-16 subunit | Caenorhabditis elegans | SS |
| Q9XTB2 | gpa-13 | Guanine nucleotide-binding protein alpha-13 subunit | Caenorhabditis elegans | SS |
| P28052 | gpa-3 | Guanine nucleotide-binding protein alpha-3 subunit | Caenorhabditis elegans | SS |
| P28051 | gpa-1 | Guanine nucleotide-binding protein alpha-1 subunit | Caenorhabditis elegans | SS |
| Q9BIG4 | gpa-10 | Guanine nucleotide-binding protein alpha-10 subunit | Caenorhabditis elegans | PR |
| Q18434 | odr-3 | Guanine nucleotide-binding protein alpha-17 subunit | Caenorhabditis elegans | SS |
| P51875 | goa-1 | Guanine nucleotide-binding protein G | Caenorhabditis elegans | SS |
| P93163 | GPA2 | Guanine nucleotide-binding protein alpha-2 subunit | Glycine max (Soybean) (Glycine hispida) | SS |
| P49084 | GPA1 | Guanine nucleotide-binding protein alpha-1 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 |
| MGCTLSAEER | AALERSKAIE | KNLKEDGISA | AKDVKLLLLG | AGESGKSTIV | KQMKIIHEDG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FSGEDVKQYK | PVVYSNTIQS | LAAIVRAMDT | LGIEYGDKER | KADAKMVCDV | VSRMEDTEPF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAELLSAMMR | LWGDSGIQEC | FNRSREYQLN | DSAKYYLDSL | DRIGAADYQP | TEQDILRTRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTTGIVETHF | TFKNLHFRLF | DVGGQRSERK | KWIHCFEDVT | AIIFCVALSG | YDQVLHEDET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TNRMHESLML | FDSICNNKFF | IDTSIILFLN | KKDLFGEKIK | KSPLTICFPE | YTGPNTYEDA |
| 310 | 320 | 330 | 340 | 350 | |
| AAYIQAQFES | KNRSPNKEIY | CHMTCATDTN | NIQVVFDAVT | DIIIANNLRG | CGLY |