P43003
PR
Gene name |
SLC1A3 |
Protein name |
Excitatory amino acid transporter 1 |
Names |
Sodium-dependent glutamate/aspartate transporter 1, GLAST-1, Solute carrier family 1 member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6507 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
351 variants for P43003
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs754763002 RCV000279440 RCV000175770 CA241530 |
10 | K>E | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002489481 RCV000993022 CA3235319 rs199774340 |
23 | R>H | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000315656 RCV002520369 rs146939026 CA3235322 |
27 | L>F | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs767138995 RCV001329184 |
70 | P>R | Episodic ataxia type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs573483474 RCV000280466 CA3235396 RCV000713365 |
71 | Y>C | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3235398 RCV002472994 rs148490778 RCV000340195 |
76 | R>Q | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3235451 rs764799721 RCV002523520 RCV000286063 |
125 | V>A | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000765840 RCV000490058 CA3235463 rs774420370 |
170 | F>L | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000010049 rs137852620 CA254817 |
186 | C>S | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3235502 rs748235513 RCV000345659 |
201 | V>M | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001155514 CA3235510 rs146815724 RCV000998370 |
209 | L>V | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs761385978 RCV001155515 CA3235511 |
214 | I>T | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001882488 RCV001155516 CA3235513 rs772789166 |
217 | V>A | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA155219 RCV000396581 rs2032892 VAR_011877 RCV000993021 RCV000118364 |
219 | E>D | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002520370 RCV000516272 rs201069745 CA3235521 RCV000310841 |
226 | R>G | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA117053926 RCV001288773 RCV003135917 rs145397429 |
257 | I>T | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000993023 COSM1067632 RCV003160121 rs1371499415 CA359479395 |
268 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137852619 VAR_031733 RCV000010048 CA254816 |
290 | P>R | Episodic ataxia type 6 EA6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA3235575 RCV001157201 CA3235574 rs761842691 RCV002558372 |
307 | M>I | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1131691717 RCV000493629 CA359480903 RCV002524040 |
312 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3235583 RCV001157203 rs753136358 |
319 | V>M | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000927291 CA3235588 rs200243548 RCV000298676 RCV001662328 |
329 | A>T | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs115702388 RCV001643071 RCV000713360 CA3235618 RCV000353609 |
385 | R>H | Spastic ataxia Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3235667 rs750317354 COSM3429420 RCV000713361 RCV002532952 |
470 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000517565 RCV002527531 RCV002525082 CA3235692 rs549164007 COSM3784881 |
484 | V>I | pancreas Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000234998 RCV000727383 rs138085358 RCV000500491 CA3235696 |
499 | R>Q | Episodic ataxia type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3235304 rs763532936 |
2 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201337391 CA3235306 |
3 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA117042088 rs188661253 |
3 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3235308 rs143791614 |
5 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3235309 rs753529094 COSM1671586 |
6 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA117042100 rs970022233 |
7 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359485148 rs757310275 |
8 | E>K | No |
ClinGen TOPMed |
|
|
rs757310275 CA117042101 |
8 | E>Q | No |
ClinGen TOPMed |
|
|
rs778736329 CA3235311 CA117042133 CA3235310 |
11 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA359485268 rs758393528 |
12 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758393528 CA3235312 COSM1634212 |
12 | G>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA359485292 rs1201170125 |
13 | G>D | No |
ClinGen gnomAD |
|
|
rs1561235030 CA359485337 |
15 | M>I | No |
ClinGen Ensembl |
|
|
CA359485329 rs1331702692 |
15 | M>L | No |
ClinGen gnomAD |
|
|
CA359485353 rs1168358927 |
16 | E>D | No |
ClinGen gnomAD |
|
|
CA359485361 rs151121541 |
17 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3235315 rs771176480 |
18 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs781563049 CA3235316 |
20 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235317 rs746153813 |
20 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA359485495 rs1406951872 |
22 | V>F | No |
ClinGen gnomAD |
|
|
rs11543905 CA3235318 |
23 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11543905 CA117042163 |
23 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359485582 RCV000520123 rs1264331837 |
25 | R>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
COSM592332 rs769225350 CA3235321 |
25 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 30 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760142896 CA3235323 |
31 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA359485764 rs1227515667 |
33 | V>A | No |
ClinGen TOPMed |
|
|
rs776251668 CA3235325 |
36 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 39 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359485893 rs1260597532 |
39 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3235328 rs745816344 COSM1067625 |
47 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs138011127 CA3235331 |
52 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3235333 rs143571478 |
57 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781439994 CA3235334 |
57 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235335 rs555176478 |
59 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3235337 rs145882647 |
60 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186093229 CA359472923 |
61 | G>V | No |
ClinGen gnomAD |
|
|
CA117023515 rs867171256 |
62 | T>K | No |
ClinGen Ensembl |
|
|
CA359472924 rs1368211837 |
62 | T>P | No |
ClinGen gnomAD |
|
|
rs555226116 CA3235390 |
63 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3235389 rs138559945 |
63 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3235388 rs778250117 |
63 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779437172 CA3235391 |
64 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1579969174 CA359472940 |
65 | G>* | No |
ClinGen Ensembl |
|
|
CA359472955 rs1362079112 |
67 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA359472967 rs368269219 |
69 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368269219 CA3235393 |
69 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117023534 rs749831415 |
70 | P>A | No |
ClinGen Ensembl |
|
|
rs767138995 CA117023537 |
70 | P>L | No |
ClinGen Ensembl |
|
|
rs761665107 CA3235395 |
71 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359472980 rs1351847335 |
72 | R>K | No |
ClinGen gnomAD |
|
|
rs1579969329 CA359472993 |
73 | M>I | No |
ClinGen Ensembl |
|
|
CA3235397 rs144582794 |
74 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215123150 CA559011951 |
75 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951918420 CA117023552 |
76 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359473031 rs1185859716 |
79 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759754607 CA3235401 |
79 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3235402 rs765415537 |
80 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1277311792 CA359473055 |
83 | F>L | No |
ClinGen TOPMed |
|
|
CA359473089 rs1157944145 |
88 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359473114 rs1454899645 |
91 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758750828 CA3235404 |
91 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3235405 rs778125372 |
92 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779571567 CA3235408 |
94 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374429607 COSM1162507 CA359473148 |
96 | V>A | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 100 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359680744 CA359473177 |
101 | I>V | No |
ClinGen TOPMed |
|
|
CA3235411 rs778699310 |
102 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1208176336 CA359473198 |
104 | L>V | No |
ClinGen gnomAD |
|
|
CA359477059 rs1339365361 |
108 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA117049283 rs934526662 |
108 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 109 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215494602 CA359477077 |
109 | A>V | No |
ClinGen gnomAD |
|
|
rs1412234747 CA359477080 |
110 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745820508 CA3235441 |
110 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263050722 CA359477100 |
111 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 112 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377113494 CA117049319 |
112 | D>G | No |
ClinGen ESP gnomAD |
|
|
rs34809305 CA359477144 |
114 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774678500 CA3235446 |
116 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1223988110 CA359477222 |
120 | G>R | No |
ClinGen TOPMed |
|
|
CA359477245 CA3235447 rs762075519 |
121 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs767978523 CA3235448 |
122 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA117049359 rs944912600 |
124 | V>A | No |
ClinGen TOPMed |
|
|
CA3235450 rs756691670 |
125 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA359477337 rs1383988805 |
129 | T>S | No |
ClinGen TOPMed |
|
|
rs149249424 CA117049385 |
133 | I>T | No |
ClinGen 1000Genomes |
|
|
CA3235452 COSM1067629 rs752276609 |
133 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1432050130 CA359477402 |
135 | V>M | No |
ClinGen gnomAD |
|
|
rs897907910 CA117049390 |
136 | V>L | No |
ClinGen TOPMed |
|
|
CA359477439 rs1272447120 |
140 | I>T | No |
ClinGen gnomAD |
|
|
CA3235454 rs777287247 |
141 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3235455 rs777287247 |
141 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA117049408 rs140071599 |
142 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA359477506 rs1290549207 |
150 | G>V | No |
ClinGen gnomAD |
|
|
CA3235456 rs368401930 |
153 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177818939 CA359477522 |
153 | E>Q | No |
ClinGen TOPMed |
|
|
CA359477541 rs1445927150 |
155 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs143649937 CA3235458 |
155 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA117049420 rs868766252 |
156 | H>Q | No |
ClinGen Ensembl |
|
|
rs1216325178 CA359477556 |
157 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3235459 rs201358917 |
158 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167788931 CA359477568 |
159 | G>D | No |
ClinGen TOPMed |
|
|
rs1442530536 CA359477588 |
162 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1442530536 CA359477586 |
162 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3235460 RCV001090996 rs780020363 |
163 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1182555011 CA359477596 |
164 | V>M | No |
ClinGen TOPMed |
|
|
CA3235462 rs144370200 |
169 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1157071308 CA359477637 |
170 | F>S | No |
ClinGen gnomAD |
|
|
CA359477699 rs1263688161 |
177 | M>I | No |
ClinGen gnomAD |
|
|
rs1015741005 CA117051651 |
177 | M>T | No |
ClinGen gnomAD |
|
|
CA3235480 rs768557336 |
181 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3235481 rs779052167 |
182 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1438565133 CA359477750 |
185 | A>G | No |
ClinGen gnomAD |
|
|
CA359477753 rs137852620 |
186 | C>G | No |
ClinGen TOPMed |
|
|
rs766171404 CA3235498 |
193 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200198714 CA3235500 |
195 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359478195 rs1554045196 RCV000518021 |
197 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1270068808 CA359478226 |
198 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3235501 rs778808337 COSM342514 |
200 | K>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1193136338 CA359478264 |
200 | K>T | No |
ClinGen gnomAD |
|
|
rs967451482 CA117053715 |
201 | V>E | No |
ClinGen Ensembl |
|
|
rs758448030 CA3235503 |
202 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778136913 CA3235504 |
203 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235505 RCV000713366 rs747247810 |
205 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA359478355 rs1303183514 |
205 | A>V | No |
ClinGen gnomAD |
|
|
CA117053724 rs977606863 |
206 | N>S | No |
ClinGen Ensembl |
|
|
CA3235507 rs541689509 |
207 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3235508 COSM186721 rs778074144 |
208 | T>M | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs960180411 CA117053754 |
211 | G>D | No |
ClinGen Ensembl |
|
|
CA359478537 rs1182413411 |
216 | N>S | No |
ClinGen gnomAD |
|
|
CA359478594 rs1263115479 |
220 | A>T | No |
ClinGen gnomAD |
|
|
rs753687627 CA3235515 |
221 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3235516 rs754777460 |
221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1382977672 CA359478637 |
222 | E>Q | No |
ClinGen gnomAD |
|
|
rs758446635 CA3235519 |
225 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs202194656 COSM737919 CA3235522 |
226 | R>Q | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359478713 rs1436981050 |
227 | I>N | No |
ClinGen gnomAD |
|
|
rs919672236 CA117053863 |
229 | E>D | No |
ClinGen TOPMed |
|
|
rs974656218 CA117053849 RCV000517513 |
229 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 230 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781616140 CA3235523 |
230 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3235525 rs201623073 |
232 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3235524 rs201623073 |
232 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3235527 rs749768412 |
242 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA117053911 rs547834086 |
249 | F>V | No |
ClinGen TOPMed |
|
|
rs771500129 CA3235528 |
250 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA359479115 rs1261790718 |
251 | M>L | No |
ClinGen gnomAD |
|
|
rs772737613 CA3235529 |
251 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235531 rs765991239 |
254 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235532 rs776184730 |
256 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3235533 rs759370844 |
258 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs907632540 CA117053930 |
259 | N>H | No |
ClinGen TOPMed |
|
|
CA359479255 rs1416760808 |
259 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764999249 CA3235534 |
259 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752614435 CA3235535 |
260 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA359479296 rs1412096735 |
262 | E>K | No |
ClinGen gnomAD |
|
|
CA359479326 rs1458712349 |
263 | Q>R | No |
ClinGen gnomAD |
|
|
rs763017329 CA3235536 |
264 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359479339 rs1321273912 |
264 | G>R | No |
ClinGen gnomAD |
|
|
rs751669761 CA3235538 |
265 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
RCV001288775 CA3235539 rs146929198 |
266 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1390865899 CA359479415 |
269 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs867842542 CA117053993 |
269 | E>K | No |
ClinGen Ensembl |
|
|
CA3235540 COSM3827984 rs781475471 |
270 | F>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1331332370 CA359479459 |
272 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359479488 rs1338438446 |
275 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756447264 CA3235542 |
276 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs868042440 CA117054001 |
276 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1742246958 RCV001255083 |
277 | A>G | No |
ClinVar dbSNP |
|
|
rs1324715225 CA359479529 |
278 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359479548 rs1212734484 COSM1240214 |
279 | M>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 279 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749758915 CA3235544 |
281 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA359479597 rs1251824298 |
283 | A>T | No |
ClinGen gnomAD |
|
|
CA359479626 rs1216202077 |
285 | I>V | No |
ClinGen TOPMed |
|
|
CA3235545 rs769171398 |
286 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111234265 CA117055625 |
288 | Y>C | No |
ClinGen Ensembl |
|
|
rs1372687512 CA359480457 |
289 | A>T | No |
ClinGen gnomAD |
|
|
rs1422798593 CA359480477 |
289 | A>V | No |
ClinGen gnomAD |
|
|
rs143438887 CA3235569 |
291 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3235570 rs368824428 |
294 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359480562 rs368824428 |
294 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762834661 CA3235571 |
299 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359480702 CA359480699 rs1297834327 |
300 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325669692 CA359480785 |
306 | D>N | No |
ClinGen gnomAD |
|
|
rs774369059 CA3235573 |
307 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA359480845 rs1290342061 |
308 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA359480827 rs1290342061 |
308 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1451693427 CA359480856 |
309 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs372652402 CA3235576 |
310 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766481298 CA3235579 |
311 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1273411490 CA359480897 |
311 | G>V | No |
ClinGen TOPMed |
|
| rs771876749 | 313 | Q>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966200792 CA117055715 |
314 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1189034701 CA359480971 |
315 | A>V | No |
ClinGen gnomAD |
|
|
CA3235581 rs117588697 |
318 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359481033 rs1355519406 |
319 | V>A | No |
ClinGen TOPMed |
|
|
COSM164362 rs758850515 CA3235584 |
321 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778392080 CA3235585 |
322 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 323 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359481093 rs1288447514 |
323 | V>I | No |
ClinGen gnomAD |
|
|
rs147552203 CA3235586 |
328 | H>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs559402074 CA3235589 |
331 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3235591 rs774323789 |
332 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748053114 CA3235592 |
335 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235593 rs780762087 |
342 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359481405 rs1229578292 COSM1067633 |
342 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA359481454 rs926634917 |
344 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA359481457 rs1209314098 |
345 | P>A | No |
ClinGen gnomAD |
|
|
CA359481467 rs1249591144 |
346 | W>R | No |
ClinGen gnomAD |
|
|
rs773243452 CA3235594 |
348 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA359481525 rs1183210247 |
349 | I>F | No |
ClinGen gnomAD |
|
|
rs760669339 RCV001288766 CA3235595 |
349 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA359481565 rs1580044991 |
352 | L>V | No |
ClinGen Ensembl |
|
|
CA3235600 RCV000518716 rs532925070 |
357 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs373692891 CA3235602 |
359 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359481865 rs1404285547 |
366 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA359481869 rs1288868855 |
366 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs762054481 CA117056290 |
367 | A>T | No |
ClinGen Ensembl |
|
|
rs746980992 CA3235612 |
367 | A>V | No |
ClinGen ExAC |
|
|
CA359481952 rs1319055603 |
372 | T>N | No |
ClinGen Ensembl |
|
|
rs1409974399 CA359482102 |
378 | E>D | No |
ClinGen gnomAD |
|
|
rs927051271 CA117056315 |
378 | E>Q | No |
ClinGen TOPMed |
|
|
rs145843572 CA3235613 |
379 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199787096 COSM186725 CA3235615 |
382 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1346862815 CA359482262 |
384 | K>T | No |
ClinGen gnomAD |
|
|
CA3235617 rs376919175 |
385 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376919175 CA117056356 |
385 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369119814 CA3235620 |
386 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359482339 rs1253331576 |
388 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762409451 CA3235621 COSM1067635 |
389 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1200209870 CA359482393 |
390 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1580046472 CA359482436 |
391 | L>P | No |
ClinGen Ensembl |
|
|
CA3235626 rs549250283 |
393 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3235627 rs561243426 |
394 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA117056408 rs997928477 |
395 | A>D | No |
ClinGen Ensembl |
|
|
CA359482541 rs1580046525 |
395 | A>P | No |
ClinGen Ensembl |
|
|
CA359482598 rs1386076563 |
397 | I>M | No |
ClinGen gnomAD |
|
|
CA3235628 rs777628859 |
397 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1290009650 CA359482622 |
398 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 400 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359482725 rs1181267359 |
401 | G>E | No |
ClinGen gnomAD |
|
|
rs1301908420 CA359482688 |
401 | G>R | No |
ClinGen gnomAD |
|
|
rs1369065288 CA359482785 |
405 | Y>H | No |
ClinGen gnomAD |
|
|
CA3235630 rs770833613 |
406 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 408 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781147237 CA3235631 |
413 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1343082422 CA359483079 |
417 | N>K | No |
ClinGen gnomAD |
|
|
RCV000993019 CA3235632 rs745942837 |
420 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3235633 rs769918067 |
421 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383191215 CA359483281 |
424 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1280991277 CA359483310 |
424 | G>V | No |
ClinGen TOPMed |
|
|
CA359483372 rs1210946703 |
427 | I>V | No |
ClinGen gnomAD |
|
|
rs763237927 CA3235635 |
428 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391192851 CA359483414 RCV000516644 |
429 | I>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1301585140 CA359609721 |
432 | T>I | No |
ClinGen TOPMed |
|
|
rs1742538697 RCV001351307 |
434 | T>I | No |
ClinVar dbSNP |
|
|
CA359609740 rs1443318401 |
435 | A>V | No |
ClinGen TOPMed |
|
|
rs947894847 CA117427162 |
440 | A>E | No |
ClinGen Ensembl |
|
|
CA3235654 rs768904432 |
443 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA117427163 COSM592322 rs1038146073 |
446 | A>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA359609809 rs1038146073 |
446 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 451 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3235658 rs773798737 |
451 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3235659 rs181358295 |
458 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3235660 rs764612898 |
459 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255797502 CA359609900 |
462 | T>A | No |
ClinGen gnomAD |
|
|
CA3235662 rs201331191 |
464 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763798684 CA3235663 |
466 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763798684 CA3235664 |
466 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762460017 CA117427166 |
468 | I>M | No |
ClinGen Ensembl |
|
|
CA3235666 rs767300506 |
469 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756063867 CA3235668 |
470 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs968582080 CA117427167 |
471 | V>E | No |
ClinGen TOPMed |
|
|
rs1205623410 CA359609978 |
474 | F>S | No |
ClinGen TOPMed |
|
|
rs766340486 CA3235686 COSM1695612 |
477 | R>C | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753780652 CA3235688 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235687 rs753780652 |
477 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766340486 CA359610011 |
477 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339572246 CA359610015 |
478 | L>I | No |
ClinGen gnomAD |
|
|
CA359610020 rs1561288563 RCV000713362 COSM1226002 |
479 | R>W | oesophagus large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 482 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359610037 rs1167208574 |
482 | T>S | No |
ClinGen gnomAD |
|
|
CA3235690 rs748343069 |
483 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs549164007 CA359610049 |
484 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359610089 rs1192752005 |
490 | G>V | No |
ClinGen gnomAD |
|
|
rs1334091499 CA359610096 |
492 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359610115 rs1449022570 |
495 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3235695 rs371888623 COSM186726 |
499 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1332218670 CA359610149 |
500 | H>Y | No |
ClinGen TOPMed |
|
|
rs768168646 CA3235697 |
504 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 506 | D>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773871568 CA3235698 |
506 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3235699 rs375611408 |
507 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3235700 rs771678103 |
509 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771678103 CA359610214 |
509 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359610233 rs1364928922 |
512 | S>P | No |
ClinGen gnomAD |
|
|
rs1433825221 CA359610239 |
513 | V>L | No |
ClinGen gnomAD |
|
|
rs763377985 CA3235701 |
515 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 516 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 517 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359610315 rs1226153453 |
523 | Y>H | No |
ClinGen gnomAD |
|
|
rs757416748 CA3235702 |
526 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766104399 CA3235703 |
528 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753745170 CA3235704 |
530 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3235706 rs765361839 |
532 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1580053666 CA359610381 |
533 | E>K | No |
ClinGen Ensembl |
|
|
CA359610401 rs1227389534 |
535 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1227389534 CA359610402 |
535 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1045623880 CA117427389 |
537 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000517043 CA3235707 rs752803485 |
538 | S>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1202617907 CA359610442 |
541 | K>R | No |
ClinGen TOPMed |
|
|
CA117427390 rs1001501963 |
542 | M>I | No |
ClinGen TOPMed |
|
|
CA359610450 rs1414663352 |
542 | M>T | No |
ClinGen gnomAD |
1 associated diseases with P43003
[MIM: 612656]: Episodic ataxia 6 (EA6)
A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. {ECO:0000269|PubMed:16116111}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. {ECO:0000269|PubMed:16116111}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for P43003
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Sodium:dicarboxylate symporter, conserved site | 84 - 98 | IPR018107-1 |
| conserved_site | Sodium:dicarboxylate symporter, conserved site | 392 - 415 | IPR018107-2 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| basal plasma membrane | The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane protein complex | Any protein complex that is part of a membrane. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| glutamate binding | Binding to glutamate, the anion of 2-aminopentanedioic acid. |
| glutamate:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glutamate(out) + Na+(out) = glutamate(in) + Na+(in). |
| high-affinity L-glutamate transmembrane transporter activity | Enables the transfer of glutamate from one side of a membrane to the other. In high-affinity transport the transporter is able to bind the solute even if it is only present at very low concentrations. |
| L-glutamate transmembrane transporter activity | Enables the transfer of L-glutamate from one side of a membrane to the other. L-glutamate is the anion of 2-aminopentanedioic acid. |
| metal ion binding | Binding to a metal ion. |
| neutral amino acid transmembrane transporter activity | Enables the transfer of neutral amino acids from one side of a membrane to the other. Neutral amino acids have side chains with no charge at pH 7.3. |
26 GO annotations of biological process
| Name | Definition |
|---|---|
| auditory behavior | The behavior of an organism in response to a sound. |
| cell morphogenesis involved in neuron differentiation | The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. |
| cellular response to cocaine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant. |
| cellular sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| cranial nerve development | The process whose specific outcome is the progression of the cranial nerves over time, from its formation to the mature structure. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. |
| D-aspartate import across plasma membrane | The directed import of D-aspartate from the extracellular region across the plasma membrane and into the cytosol. |
| gamma-aminobutyric acid biosynthetic process | The chemical reactions and pathways resulting in the formation of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-aspartate import across plasma membrane | The directed movement of L-aspartate from outside of a cell, across the plasma membrane and into the cytosol. |
| L-glutamate import | The directed movement of L-glutamate, the L-enantiomer of the anion of 2-aminopentanedioic acid, into a cell or organelle. |
| L-glutamate import across plasma membrane | The directed movement of L-glutamate from outside of a cell, across the plasma membrane and into the cytosol. |
| L-glutamate transmembrane transport | The directed movement of L-glutamate across a membrane. |
| neuromuscular process controlling balance | Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neurotransmitter uptake | The directed movement of neurotransmitters into neurons or glial cells. This process leads to inactivation and recycling of neurotransmitters. |
| positive regulation of synaptic transmission | Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| response to antibiotic | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms. |
| response to light stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. |
| response to wounding | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| transepithelial transport | The directed movement of a substance from one side of an epithelium to the other. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P46411 | SLC1A3 | Excitatory amino acid transporter 1 | Bos taurus (Bovine) | PR |
| O00341 | SLC1A7 | Excitatory amino acid transporter 5 | Homo sapiens (Human) | PR |
| O35544 | Slc1a6 | Excitatory amino acid transporter 4 | Mus musculus (Mouse) | PR |
| Q8JZR4 | Slc1a7 | Excitatory amino acid transporter 5 | Mus musculus (Mouse) | PR |
| P56564 | Slc1a3 | Excitatory amino acid transporter 1 | Mus musculus (Mouse) | PR |
| P24942 | Slc1a3 | Excitatory amino acid transporter 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTKSNGEEPK | MGGRMERFQQ | GVRKRTLLAK | KKVQNITKED | VKSYLFRNAF | VLLTVTAVIV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GTILGFTLRP | YRMSYREVKY | FSFPGELLMR | MLQMLVLPLI | ISSLVTGMAA | LDSKASGKMG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MRAVVYYMTT | TIIAVVIGII | IVIIIHPGKG | TKENMHREGK | IVRVTAADAF | LDLIRNMFPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLVEACFKQF | KTNYEKRSFK | VPIQANETLV | GAVINNVSEA | METLTRITEE | LVPVPGSVNG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VNALGLVVFS | MCFGFVIGNM | KEQGQALREF | FDSLNEAIMR | LVAVIMWYAP | VGILFLIAGK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IVEMEDMGVI | GGQLAMYTVT | VIVGLLIHAV | IVLPLLYFLV | TRKNPWVFIG | GLLQALITAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GTSSSSATLP | ITFKCLEENN | GVDKRVTRFV | LPVGATINMD | GTALYEALAA | IFIAQVNNFE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LNFGQIITIS | ITATAASIGA | AGIPQAGLVT | MVIVLTSVGL | PTDDITLIIA | VDWFLDRLRT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TTNVLGDSLG | AGIVEHLSRH | ELKNRDVEMG | NSVIEENEMK | KPYQLIAQDN | ETEKPIDSET |
| KM |