P30825
PR
Gene name |
SLC7A1 |
Protein name |
High affinity cationic amino acid transporter 1 |
Names |
CAT-1, CAT1, Ecotropic retroviral leukemia receptor homolog, Ecotropic retrovirus receptor homolog, Solute carrier family 7 member 1, System Y+ basic amino acid transporter |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6541 |
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
Autoinhibited structure
Activated structure
1 structures for P30825
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P30825-F1 | Predicted | AlphaFoldDB |
340 variants for P30825
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA247378418 rs981098480 |
2 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 2 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6933138 rs764041616 |
8 | N>S | No |
ClinGen ExAC |
|
|
CA6933137 rs370398460 |
9 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6933136 rs750364014 |
11 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360191536 CA387718489 |
13 | M>L | No |
ClinGen gnomAD |
|
|
rs1416819925 CA387718471 |
15 | R>L | No |
ClinGen TOPMed |
|
|
rs1416819925 CA387718473 |
15 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387718468 rs1461120496 |
16 | R>Q | No |
ClinGen TOPMed |
|
|
rs1566259880 COSM273272 CA387718469 |
16 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs769871672 CA6933135 |
18 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769871672 CA387718453 |
18 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747050188 CA6933134 |
19 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6933132 rs376971257 |
21 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318295567 CA387718437 |
21 | C>Y | No |
ClinGen TOPMed |
|
|
CA6933130 rs200608225 |
23 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6933131 rs140563450 |
23 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755374847 COSM379027 CA6933129 |
26 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1018487412 CA247378357 |
27 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs141349204 CA387718399 |
27 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6933124 rs146750828 |
30 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 30 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387718380 rs1201805054 |
31 | C>S | No |
ClinGen gnomAD |
|
|
rs929210408 CA247378343 |
32 | L>M | No |
ClinGen TOPMed |
|
|
CA6933123 rs756924279 |
33 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208123414 CA387718361 |
34 | T>A | No |
ClinGen gnomAD |
|
|
rs1353014705 CA387718356 |
34 | T>I | No |
ClinGen gnomAD |
|
|
rs1353014705 CA387718357 |
34 | T>S | No |
ClinGen gnomAD |
|
|
CA387718323 rs1566259779 |
39 | A>V | No |
ClinGen Ensembl |
|
|
CA387718305 rs1593550924 |
42 | V>G | No |
ClinGen Ensembl |
|
|
rs775434572 CA6933119 |
52 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765151049 CA6933118 |
54 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs972718092 CA247378313 |
57 | V>M | No |
ClinGen TOPMed |
|
|
rs199618490 CA247378309 |
58 | A>T | No |
ClinGen Ensembl |
|
|
rs774638253 CA247378307 |
58 | A>V | No |
ClinGen Ensembl |
|
|
rs759457641 CA6933117 |
59 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6933116 rs772091363 |
59 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772091363 CA6933115 |
59 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247378296 rs941354382 |
60 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1415821236 CA387718199 |
61 | N>D | No |
ClinGen gnomAD |
|
|
CA387718194 rs1593550869 |
61 | N>K | No |
ClinGen Ensembl |
|
|
rs1382813325 CA387718191 |
62 | A>S | No |
ClinGen TOPMed |
|
|
rs1566259724 CA387718188 |
62 | A>V | No |
ClinGen Ensembl |
|
|
CA387718182 rs1593550855 |
63 | G>A | No |
ClinGen Ensembl |
|
|
rs1416661624 CA387718170 |
65 | A>V | No |
ClinGen TOPMed |
|
|
rs1593550846 CA387718156 |
68 | I>L | No |
ClinGen Ensembl |
|
|
CA387718122 rs1178335391 |
73 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387718062 rs1246342225 |
83 | C>S | No |
ClinGen gnomAD |
|
|
CA387718034 rs1593550819 |
87 | F>V | No |
ClinGen Ensembl |
|
|
CA387718024 rs1350715590 |
88 | G>D | No |
ClinGen TOPMed |
|
|
CA6933110 rs780403116 |
90 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387718007 rs1593550801 |
91 | V>G | No |
ClinGen Ensembl |
|
|
rs1593550789 CA387717999 |
93 | K>Q | No |
ClinGen Ensembl |
|
|
rs756760070 CA6933106 |
94 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387717975 rs1224498036 |
97 | A>T | No |
ClinGen gnomAD |
|
|
CA387717935 rs1344837693 |
102 | Y>C | No |
ClinGen gnomAD |
|
|
CA387717925 rs1566259644 |
104 | T>A | No |
ClinGen Ensembl |
|
|
CA387717917 rs1327633430 |
105 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758124150 CA6933103 |
105 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs370797687 CA387717870 |
112 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6933101 rs370797687 |
112 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423144803 CA387717861 |
113 | T>S | No |
ClinGen gnomAD |
|
|
CA387717859 rs1470094128 |
114 | G>S | No |
ClinGen gnomAD |
|
|
CA6933098 rs766369334 |
115 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1170989591 CA387717844 |
116 | N>D | No |
ClinGen gnomAD |
|
|
rs761833182 CA6933097 |
116 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387717817 rs1479022074 |
120 | S>P | No |
ClinGen TOPMed |
|
| rs907022954 | 123 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA247378160 rs957935993 |
124 | G>S | No |
ClinGen TOPMed |
|
|
rs764220738 CA6933076 |
125 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775617675 CA387717770 |
125 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775617675 CA6933074 |
125 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs775617675 CA6933075 |
125 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6933073 rs770088862 |
126 | S>L | No |
ClinGen ExAC |
|
|
rs771556694 CA6933070 |
127 | S>N | No |
ClinGen ExAC |
|
|
CA6933068 rs572108301 |
127 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6933067 rs571643584 |
128 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139070266 CA6933065 |
129 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593548694 CA387717716 |
134 | A>S | No |
ClinGen Ensembl |
|
|
rs1593548681 CA387717712 |
135 | T>P | No |
ClinGen Ensembl |
|
|
rs764130940 COSM946604 CA6933059 |
137 | D>N | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752833100 CA6933057 |
138 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387717657 rs1251574516 |
143 | P>H | No |
ClinGen gnomAD |
|
|
CA247376737 rs147532112 |
143 | P>S | No |
ClinGen ESP |
|
|
CA6933054 rs776843495 |
145 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221648474 CA387717635 |
146 | E>D | No |
ClinGen gnomAD |
|
|
CA6933053 rs766898178 |
148 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6933051 rs773813023 |
149 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6933052 rs761231849 |
149 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA387717616 rs1362803549 |
150 | T>A | No |
ClinGen TOPMed |
|
|
rs772726692 CA6933050 |
151 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6933048 rs773918274 |
153 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA387717585 rs1435805850 |
155 | N>D | No |
ClinGen gnomAD |
|
|
rs779806009 CA6933045 |
156 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1012475222 CA247376685 |
158 | G>A | No |
ClinGen Ensembl |
|
|
CA6933042 rs144317399 |
158 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387717561 rs1449503008 |
159 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1449503008 CA387717563 |
159 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1373598745 CA387717550 |
161 | A>S | No |
ClinGen Ensembl |
|
|
CA247376670 rs931489763 |
163 | N>T | No |
ClinGen Ensembl |
|
|
COSM946603 rs754129311 CA6933037 |
165 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1212358738 CA387717512 |
166 | I>M | No |
ClinGen TOPMed |
|
|
CA387717518 rs1217815142 |
166 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6933035 rs761070275 |
168 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302217705 CA387717491 |
170 | I>V | No |
ClinGen gnomAD |
|
|
rs1043404736 CA387717485 |
171 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA247376656 rs1043404736 COSM550856 |
171 | I>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6933032 rs145721598 |
173 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6933031 rs773721438 |
174 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253262295 CA387717383 |
181 | L>F | No |
ClinGen gnomAD |
|
|
rs764543216 CA6933008 |
182 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1341489182 CA387717324 |
185 | E>D | No |
ClinGen gnomAD |
|
|
CA6933005 rs769428970 |
188 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1341611766 CA387717274 |
189 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1341611766 CA387717277 |
189 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA247375470 rs953824425 |
191 | K>R | No |
ClinGen TOPMed |
|
|
CA6933004 rs557103600 |
192 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879046537 CA247375460 |
194 | T>A | No |
ClinGen Ensembl |
|
|
CA6933002 rs374583318 |
196 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746809752 CA6933001 |
197 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6932999 rs543997644 |
198 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194938671 CA387717079 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs749312660 CA6932998 |
206 | V>M | No |
ClinGen ExAC |
|
|
CA387716962 rs1421813799 |
212 | G>R | No |
ClinGen gnomAD |
|
|
rs1272337175 CA387716942 |
213 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 216 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141942394 CA6932993 |
220 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs893762949 CA247375411 |
221 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs893762949 TCGA novel CA387716869 |
221 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387716850 rs1593546983 |
223 | D>G | No |
ClinGen Ensembl |
|
|
rs1265347036 CA387716853 |
223 | D>H | No |
ClinGen gnomAD |
|
|
CA387716839 rs1593546975 |
224 | F>L | No |
ClinGen Ensembl |
|
|
CA387716828 rs1215155344 |
226 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751174406 CA6932990 |
227 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566257362 CA387716805 |
230 | R>C | No |
ClinGen Ensembl |
|
|
CA6932989 rs371178322 |
230 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6932988 rs113542454 |
231 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA247375386 rs113542454 |
231 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6932987 rs759155237 |
234 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6932965 rs767470259 |
240 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159993049 CA387716707 |
242 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs774391609 CA6932963 |
243 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs373123314 CA247371638 |
243 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs745887505 CA6932961 |
248 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387716655 rs771167957 |
250 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387716661 rs1208707220 |
250 | F>L | No |
ClinGen gnomAD |
|
|
rs747240774 CA6932958 |
251 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778165390 CA6932957 |
254 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA387716630 rs1593542852 |
255 | V>I | No |
ClinGen Ensembl |
|
|
rs758719917 CA6932956 |
257 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA387716618 rs1273945257 |
257 | S>P | No |
ClinGen gnomAD |
|
|
rs779333571 CA6932954 |
259 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA247371552 rs989708659 |
262 | C>Y | No |
ClinGen TOPMed |
|
|
rs1414875944 CA387716572 |
264 | Y>C | No |
ClinGen gnomAD |
|
|
rs767310993 CA387716510 |
273 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs767310993 CA6932948 |
273 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1593542799 CA387716500 |
275 | T>P | No |
ClinGen Ensembl |
|
|
CA387716493 rs1442242439 COSM946601 |
276 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1181084798 CA387716447 |
280 | K>N | No |
ClinGen gnomAD |
|
|
rs751293185 CA6932910 |
281 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415510230 CA387716438 |
282 | P>T | No |
ClinGen Ensembl |
|
|
CA387716410 rs1222162809 |
286 | I>V | No |
ClinGen gnomAD |
|
|
CA6932906 rs372011599 |
288 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA247370812 rs557568889 |
291 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 292 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140858980 CA6932904 |
292 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761992378 CA6932902 |
296 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435914176 CA387716342 |
297 | C>Y | No |
ClinGen gnomAD |
|
|
rs1270122481 CA387716330 |
298 | F>L | No |
ClinGen TOPMed |
|
|
rs763171472 CA6932899 |
300 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs988765290 CA247370781 |
302 | F>V | No |
ClinGen TOPMed |
|
|
CA387716294 rs1157830010 |
304 | V>L | No |
ClinGen gnomAD |
|
|
CA387716284 rs1191243944 |
306 | A>T | No |
ClinGen gnomAD |
|
|
CA6932894 rs770522436 |
307 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251055207 CA387716268 |
308 | L>R | No |
ClinGen gnomAD |
|
|
rs746536517 CA6932893 |
309 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6932892 rs777508270 |
311 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302294494 CA387716229 |
314 | Y>C | No |
ClinGen gnomAD |
|
|
rs1214884732 CA387716195 |
319 | N>D | No |
ClinGen TOPMed |
|
|
CA387716191 rs1446412957 |
319 | N>I | No |
ClinGen TOPMed |
|
|
CA387716192 rs1446412957 |
319 | N>S | No |
ClinGen TOPMed |
|
|
CA6932888 rs754849202 |
320 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558871896 CA6932884 |
325 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6932883 rs558871896 |
325 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765687067 CA6932880 |
326 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs765687067 CA6932881 |
326 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs953783149 CA247370698 |
326 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 330 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777226284 CA6932878 |
330 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA247370684 rs976905614 |
333 | E>A | No |
ClinGen gnomAD |
|
|
CA387716085 rs1387045614 |
335 | A>G | No |
ClinGen TOPMed |
|
|
rs771575378 CA6932877 |
337 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450032795 CA387716067 |
338 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6932874 rs771609121 |
341 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6932872 rs368220114 |
342 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1256799076 CA387716045 |
342 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA247370636 rs1026966710 |
347 | L>I | No |
ClinGen Ensembl |
|
|
CA6932868 rs756051752 |
349 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6932851 rs749018518 |
353 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA387715948 rs1309543963 |
356 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6932849 rs769709903 |
358 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA387715919 rs1566254170 |
360 | R>W | No |
ClinGen Ensembl |
|
|
CA247370029 rs963940936 |
361 | V>A | No |
ClinGen gnomAD |
|
|
rs745870477 CA6932848 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387715892 rs1280025451 |
364 | A>G | No |
ClinGen gnomAD |
|
|
rs1448379549 CA387715877 |
366 | A>G | No |
ClinGen gnomAD |
|
|
CA6932847 rs777687486 |
369 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758450860 CA6932846 |
377 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs779207918 CA6932844 |
378 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6932843 rs370848106 |
379 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754240508 CA6932842 |
381 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1248510478 CA387715767 |
383 | K>E | No |
ClinGen gnomAD |
|
|
rs761231796 CA6932840 |
384 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1461639252 CA387715747 |
386 | I>V | No |
ClinGen gnomAD |
|
|
COSM946599 CA247369957 rs995993379 |
388 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1243751385 CA387715712 |
391 | A>V | No |
ClinGen TOPMed |
|
|
rs146370112 CA6932831 |
395 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6932832 rs148568939 |
395 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148568939 CA6932833 |
395 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6932816 rs775070575 |
397 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764879001 CA6932815 |
399 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387715561 rs1192261413 |
412 | M>I | No |
ClinGen gnomAD |
|
|
rs1198315232 CA387715547 |
414 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6932810 rs138868586 |
421 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA247368172 rs997168715 |
431 | R>Q | No |
ClinGen Ensembl |
|
|
CA387715444 rs1593539859 |
431 | R>W | No |
ClinGen Ensembl |
|
|
CA387715426 rs1311360749 |
432 | Y>F | No |
ClinGen gnomAD |
|
|
CA387715424 rs1311360749 |
432 | Y>S | No |
ClinGen gnomAD |
|
|
CA387715374 rs1433802664 |
439 | L>P | No |
ClinGen gnomAD |
|
|
rs771149012 CA6932784 |
440 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781595873 CA6932785 |
440 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247367274 rs892266486 |
445 | S>G | No |
ClinGen TOPMed |
|
|
CA387715335 rs1416701172 |
445 | S>N | No |
ClinGen gnomAD |
|
|
CA387715334 rs1416701172 |
445 | S>T | No |
ClinGen gnomAD |
|
|
rs1185368501 CA387715328 |
446 | T>S | No |
ClinGen gnomAD |
|
|
rs778198890 CA6932782 |
448 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778328419 CA6932779 |
449 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6932780 rs752202196 |
449 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA387715289 rs1291992655 |
452 | P>A | No |
ClinGen gnomAD |
|
|
CA247367218 rs1001214231 COSM1188687 |
454 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs754639551 CA6932778 |
459 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6932776 rs766088631 |
462 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230468276 CA387715211 |
463 | D>A | No |
ClinGen gnomAD |
|
|
CA6932775 rs760480841 |
464 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247367202 rs766460192 |
466 | L>P | No |
ClinGen Ensembl |
|
|
CA387715167 rs1241242359 |
470 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 471 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387715149 rs1327235026 |
472 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387715133 rs1218782564 |
474 | M>I | No |
ClinGen gnomAD |
|
|
CA6932770 rs769811276 |
480 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6932769 rs34072234 |
482 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162298791 CA387715077 |
483 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 485 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408329679 COSM346167 CA387715057 |
486 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA387715043 rs1208137457 |
487 | E>V | No |
ClinGen TOPMed |
|
|
rs1176094404 CA387715020 |
491 | I>L | No |
ClinGen gnomAD |
|
|
CA247367148 rs949762073 |
491 | I>T | No |
ClinGen Ensembl |
|
|
rs771184509 CA6932767 |
492 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1248369309 CA387715003 |
494 | L>I | No |
ClinGen gnomAD |
|
|
CA387714981 rs1593538703 |
497 | N>S | No |
ClinGen Ensembl |
|
|
rs1593538697 COSM362880 CA387714953 |
501 | S>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6932765 rs778180615 |
503 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359217049 CA387714913 |
506 | L>V | No |
ClinGen gnomAD |
|
|
rs779680497 CA6932741 |
507 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387714898 rs1173686772 |
508 | I>T | No |
ClinGen gnomAD |
|
|
CA6932739 RCV000962286 rs75759022 |
508 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1283861531 CA387714893 |
509 | T>I | No |
ClinGen TOPMed |
|
|
CA387714870 rs1353943094 |
512 | I>T | No |
ClinGen TOPMed |
|
|
CA6932738 rs781011122 |
513 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs535160170 CA6932737 |
515 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6932736 rs572309703 |
516 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6932734 rs758432191 |
518 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210249272 CA387714823 |
520 | A>D | No |
ClinGen gnomAD |
|
|
rs753834549 CA6932733 |
521 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931475984 CA247366748 |
522 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6932732 rs766497045 |
524 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6932731 rs569947462 |
525 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160842489 CA387714789 |
526 | L>P | No |
ClinGen TOPMed |
|
|
CA387714758 rs1356936448 COSM346380 |
531 | L>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs556791576 CA6932726 |
533 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556791576 CA387714747 |
533 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556791576 CA6932725 |
533 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387714705 rs1299778170 |
540 | A>T | No |
ClinGen gnomAD |
|
|
rs775116966 CA6932724 |
540 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387714699 rs982782612 |
541 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA247366714 rs982782612 |
541 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387714691 rs1476104496 |
542 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1418833958 CA387714689 |
543 | T>A | No |
ClinGen gnomAD |
|
|
rs745399576 CA6932722 |
543 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6932718 rs548607156 |
545 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6932719 rs548607156 |
545 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1483268469 CA387714642 |
550 | P>A | No |
ClinGen TOPMed |
|
|
CA387714638 rs1250165316 |
550 | P>L | No |
ClinGen gnomAD |
|
|
rs1293459405 CA387714632 |
551 | E>D | No |
ClinGen gnomAD |
|
|
rs370198806 CA6932716 |
551 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6932715 rs765191110 |
552 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387714558 rs1205361652 |
560 | V>I | No |
ClinGen gnomAD |
|
|
CA387714529 rs1381505347 |
565 | V>M | No |
ClinGen TOPMed |
|
|
rs1453080006 CA387714522 |
566 | L>V | No |
ClinGen TOPMed |
|
|
rs1235918782 CA387714505 |
568 | I>M | No |
ClinGen gnomAD |
|
|
CA387714487 rs1404526755 |
571 | I>T | No |
ClinGen TOPMed |
|
|
rs1327991489 CA387714476 |
573 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 575 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381889681 CA387714462 |
575 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6932686 rs753777895 |
576 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1435489786 CA387714428 |
579 | M>R | No |
ClinGen gnomAD |
|
|
rs1172332675 CA387714411 |
582 | D>N | No |
ClinGen gnomAD |
|
|
rs1476557192 CA387714402 |
583 | Q>E | No |
ClinGen gnomAD |
|
|
CA387714377 rs1374021558 |
586 | W>C | No |
ClinGen gnomAD |
|
|
CA387714366 rs1193390067 |
588 | R>Q | No |
ClinGen gnomAD |
|
|
rs1236864791 CA387714349 |
591 | V>M | No |
ClinGen TOPMed |
|
|
CA387714316 rs1173037352 |
595 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779312164 CA6932647 |
598 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6932646 rs377505115 |
599 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1406946810 CA387714267 |
601 | F>I | No |
ClinGen TOPMed |
|
|
rs9508482 CA6932642 |
608 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6932640 rs761334432 |
609 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387714210 rs1445256883 |
609 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387714209 rs1445256883 |
609 | E>Q | No |
ClinGen gnomAD |
|
|
rs1326961927 CA387714195 |
611 | A>S | No |
ClinGen gnomAD |
|
|
rs1326961927 CA387714193 |
611 | A>T | No |
ClinGen gnomAD |
|
|
rs773951324 COSM946596 CA6932639 |
611 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1203779930 CA387714185 |
612 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 614 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201219239 CA6932636 |
616 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147599728 CA6932635 |
620 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6932634 rs776655733 CA387714120 |
622 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141199906 CA6932632 |
623 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6932631 rs141199906 |
623 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6932629 rs755310496 |
625 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6932628 rs749660353 |
626 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA387714095 rs1317549658 |
626 | D>E | No |
ClinGen gnomAD |
|
|
rs1245142183 CA387714101 |
626 | D>N | No |
ClinGen gnomAD |
|
|
rs780324629 CA6932627 |
627 | Q>* | No |
ClinGen ExAC gnomAD |
No associated diseases with P30825
1 regional properties for P30825
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cationic amino acid transporter, C-terminal | 558 - 608 | IPR029485 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| 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. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid transmembrane transporter activity | Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. |
| basic amino acid transmembrane transporter activity | Enables the transfer of basic amino acids from one side of a membrane to the other. Basic amino acids have side chains with a positive charge at pH 7.3. |
| L-arginine transmembrane transporter activity | Enables the transfer of L-arginine from one side of a membrane to the other. |
| L-histidine transmembrane transporter activity | Enables the transfer of L-histidine from one side of a membrane to the other. L-histidine is 2-amino-3-(1H-imidazol-4-yl)propanoic acid. |
| L-lysine transmembrane transporter activity | Enables the transfer of L-lysine from one side of a membrane to the other. L-lysine is 2,6-diaminohexanoic acid. |
| L-ornithine transmembrane transporter activity | Enables the transfer of L-ornithine from one side of a membrane to the other. L-ornithine is 2,5-diaminopentanoic acid. |
| virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid import across plasma membrane | The directed movement of an amino acid from outside of a cell, across the plasma membrane and into the cytosol. |
| amino acid transport | The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-amino acid transport | The directed movement of L-enantiomer amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-arginine import across plasma membrane | The directed movement of L-arginine from outside of a cell, across the plasma membrane and into the cytosol. |
| L-arginine transmembrane transport | The directed movement of L-arginine across a membrane. |
| L-histidine import across plasma membrane | The directed movement of L-histidine from outside of a cell, across the plasma membrane and into the cytosol. |
| L-ornithine transmembrane transport | The directed movement of L-ornithine across a membrane. |
| lysine transport | The directed movement of lysine, 2,6-diaminohexanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ornithine transport | The directed movement of ornithine, 2,5-diaminopentanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of T cell proliferation | Any process that activates or increases the rate or extent of T cell proliferation. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8WY07 | SLC7A3 | Cationic amino acid transporter 3 | Homo sapiens (Human) | PR |
| P70423 | Slc7a3 | Cationic amino acid transporter 3 | Mus musculus (Mouse) | PR |
| Q09143 | Slc7a1 | High affinity cationic amino acid transporter 1 | Mus musculus (Mouse) | PR |
| O08812 | Slc7a3 | Cationic amino acid transporter 3 | Rattus norvegicus (Rat) | PR |
| P30823 | Slc7a1 | High affinity cationic amino acid transporter 1 | Rattus norvegicus (Rat) | PR |
| Q84MA5 | CAT1 | Cationic amino acid transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LZ20 | CAT6 | Cationic amino acid transporter 6, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5PR34 | slc7a2 | Cationic amino acid transporter 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGCKVLLNIG | QQMLRRKVVD | CSREETRLSR | CLNTFDLVAL | GVGSTLGAGV | YVLAGAVARE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NAGPAIVISF | LIAALASVLA | GLCYGEFGAR | VPKTGSAYLY | SYVTVGELWA | FITGWNLILS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YIIGTSSVAR | AWSATFDELI | GRPIGEFSRT | HMTLNAPGVL | AENPDIFAVI | IILILTGLLT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGVKESAMVN | KIFTCINVLV | LGFIMVSGFV | KGSVKNWQLT | EEDFGNTSGR | LCLNNDTKEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KPGVGGFMPF | GFSGVLSGAA | TCFYAFVGFD | CIATTGEEVK | NPQKAIPVGI | VASLLICFIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YFGVSAALTL | MMPYFCLDNN | SPLPDAFKHV | GWEGAKYAVA | VGSLCALSAS | LLGSMFPMPR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VIYAMAEDGL | LFKFLANVND | RTKTPIIATL | ASGAVAAVMA | FLFDLKDLVD | LMSIGTLLAY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLVAACVLVL | RYQPEQPNLV | YQMASTSDEL | DPADQNELAS | TNDSQLGFLP | EAEMFSLKTI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSPKNMEPSK | ISGLIVNIST | SLIAVLIITF | CIVTVLGREA | LTKGALWAVF | LLAGSALLCA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VVTGVIWRQP | ESKTKLSFKV | PFLPVLPILS | IFVNVYLMMQ | LDQGTWVRFA | VWMLIGFIIY |
| 610 | 620 | ||||
| FGYGLWHSEE | ASLDADQART | PDGNLDQCK |