Q9UPY5
PR
Gene name |
SLC7A11 |
Protein name |
Cystine/glutamate transporter |
Names |
Amino acid transport system xc-, Calcium channel blocker resistance protein CCBR1, Solute carrier family 7 member 11, xCT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23657 |
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
5 structures for Q9UPY5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7CCS | EM | 620 A | B | 1-501 | PDB |
| 7EPZ | EM | 340 A | B | 2-501 | PDB |
| 7P9U | EM | 370 A | B | 2-501 | PDB |
| 7P9V | EM | 340 A | B | 2-501 | PDB |
| AF-Q9UPY5-F1 | Predicted | AlphaFoldDB |
383 variants for Q9UPY5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3082270 rs377269313 |
3 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763081007 CA3082269 |
6 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1450773370 CA358378352 |
7 | V>A | No |
ClinGen gnomAD |
|
|
CA3082268 rs773906836 |
8 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3082266 rs776653067 |
10 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3082265 rs777065705 |
14 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA358378311 rs1160916024 |
14 | G>S | No |
ClinGen gnomAD |
|
|
CA358378296 rs1412764732 |
16 | L>P | No |
ClinGen gnomAD |
|
|
rs768835477 CA3082264 |
17 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs779522788 CA3082262 |
18 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082261 rs771616565 |
19 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA358378278 rs1275988862 |
19 | N>S | No |
ClinGen TOPMed |
|
|
CA107167820 rs1034283861 |
20 | V>I | No |
ClinGen Ensembl |
|
|
CA107167819 rs1002712585 |
24 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs140307668 CA3082258 |
25 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3082259 rs374183432 |
25 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3082260 rs374183432 |
25 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1036194503 CA107167818 |
26 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209568964 CA358378214 |
30 | K>R | No |
ClinGen gnomAD |
|
|
rs753664204 CA3082257 |
31 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200698259 CA3082256 |
32 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202224795 CA3082254 |
36 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3082253 rs766688436 |
37 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082252 rs151187403 |
37 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3082250 rs374643248 |
39 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA107167817 rs986321834 |
41 | K>Q | No |
ClinGen Ensembl |
|
|
CA107167816 rs886687718 |
43 | K>Q | No |
ClinGen TOPMed |
|
|
CA358378118 rs1348969634 |
45 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA107167815 rs931682205 |
45 | T>P | No |
ClinGen Ensembl |
|
|
rs776964092 CA3082248 |
46 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769086049 CA3082247 |
47 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA107167814 rs921564567 |
48 | R>K | No |
ClinGen gnomAD |
|
|
CA3082246 rs760924104 |
49 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358378097 rs1405157846 |
49 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217542208 CA358378091 |
50 | V>D | No |
ClinGen gnomAD |
|
|
CA358378082 rs1440382026 |
52 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3082244 rs775244957 |
54 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA358378066 rs1488250785 |
54 | I>T | No |
ClinGen gnomAD |
|
|
rs7442098 CA107167811 |
56 | T>S | No |
ClinGen Ensembl |
|
|
rs745436614 CA3082242 |
58 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082241 rs778405184 |
59 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1226803152 CA358378033 |
60 | A>T | No |
ClinGen gnomAD |
|
|
CA3082239 rs749284240 |
60 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 61 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358378014 rs1382315512 |
63 | F>L | No |
ClinGen gnomAD |
|
|
rs755988943 CA3082237 |
70 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA358377954 rs1353913618 |
72 | N>D | No |
ClinGen TOPMed |
|
|
CA358377955 rs1353913618 |
72 | N>H | No |
ClinGen TOPMed |
|
|
rs977621593 CA107167808 |
73 | T>A | No |
ClinGen Ensembl |
|
|
CA3082236 rs752405496 |
73 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1021734530 CA107167806 |
76 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1021734530 CA107167807 |
76 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs990610418 CA107167805 |
77 | G>C | No |
ClinGen gnomAD |
|
|
CA3082233 rs750605848 |
77 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA358377918 rs990610418 |
77 | G>S | No |
ClinGen gnomAD |
|
|
rs1432672988 CA358377909 |
78 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765439029 CA3082232 |
79 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3082230 rs754415590 |
82 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3082229 rs199779027 |
84 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484292029 CA358377834 |
85 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358377809 rs1311091827 |
87 | G>E | No |
ClinGen gnomAD |
|
|
CA358377811 rs1233244798 |
87 | G>W | No |
ClinGen gnomAD |
|
|
CA3082227 rs775814990 |
88 | V>F | No |
ClinGen ExAC |
|
|
rs1290811757 CA358377782 |
90 | S>* | No |
ClinGen gnomAD |
|
|
COSM1578884 CA358377768 rs1298622851 |
92 | F>L | meninges [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 96 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753854801 CA3082213 |
97 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1323727210 CA358379519 |
98 | A>V | No |
ClinGen gnomAD |
|
|
CA358379495 rs1226258838 |
102 | T>P | No |
ClinGen gnomAD |
|
|
CA107167279 rs897267875 |
103 | T>A | No |
ClinGen TOPMed |
|
|
CA3082212 rs764715648 |
103 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395348799 CA358379484 |
104 | I>V | No |
ClinGen gnomAD |
|
|
rs1376917929 CA358379477 |
105 | K>E | No |
ClinGen gnomAD |
|
|
rs1470349677 CA358379455 |
108 | G>R | No |
ClinGen gnomAD |
|
|
CA358379450 rs1388089898 |
109 | G>S | No |
ClinGen gnomAD |
|
|
rs1327926264 CA358379427 |
112 | T>A | No |
ClinGen TOPMed |
|
|
rs1187319968 CA358379404 |
115 | L>S | No |
ClinGen gnomAD |
|
|
rs1422528849 CA358379389 |
117 | V>D | No |
ClinGen gnomAD |
|
|
CA358379385 rs1482065509 |
118 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3082208 rs762190755 |
119 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358379374 rs1461371523 |
119 | G>V | No |
ClinGen gnomAD |
|
|
rs375389543 CA3082205 |
122 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765920063 CA3082206 |
122 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3082204 rs772583202 |
125 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769292510 CA3082203 COSM1051351 |
126 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA358379336 rs1453361184 |
126 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 129 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3082202 rs568920714 |
129 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA107167277 rs1040910588 |
131 | L>F | No |
ClinGen Ensembl |
|
|
CA358379293 rs776660104 |
133 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776660104 CA3082201 |
133 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs372435503 CA3082200 |
134 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA107167276 rs201976885 |
134 | I>L | No |
ClinGen 1000Genomes |
|
|
CA3082198 rs200429732 |
135 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3082199 rs200429732 |
135 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367543374 CA3082197 |
135 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA107167275 rs200429732 |
135 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3082169 rs781752264 |
136 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs34757167 CA3082170 |
136 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1231291954 CA358379257 |
138 | A>S | No |
ClinGen gnomAD |
|
|
CA358379248 rs1409607660 |
139 | T>I | No |
ClinGen gnomAD |
|
|
CA3082166 rs780288027 |
140 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA107166882 rs753328969 |
141 | V>M | No |
ClinGen Ensembl |
|
|
rs1396553567 CA358379229 |
143 | S>P | No |
ClinGen gnomAD |
|
|
CA358379218 rs1476810049 |
145 | A>P | No |
ClinGen gnomAD |
|
|
CA3082161 rs753381662 |
146 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145016189 CA3082160 |
148 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3082159 rs373100601 |
148 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082158 rs373100601 |
148 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3082156 rs149230402 |
150 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149230402 CA3082155 |
150 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3082154 rs190067137 |
153 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198820469 CA358379165 |
154 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748285171 CA3082153 |
157 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1263988529 CA358379133 |
158 | C>Y | No |
ClinGen gnomAD |
|
|
CA3082152 rs781262484 |
159 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188239892 CA358379107 |
162 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3082151 rs768658328 |
163 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs185660640 CA3082149 |
164 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185660640 CA3082150 |
164 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185660640 CA3082148 |
164 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358379086 rs1259525532 |
165 | I>M | No |
ClinGen TOPMed |
|
|
CA3082146 rs145408696 |
166 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756980113 CA3082145 |
167 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3082144 rs542769257 |
168 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA107166880 rs973560187 |
168 | I>V | No |
ClinGen TOPMed |
|
|
CA358379063 rs1407745821 |
169 | T>I | No |
ClinGen gnomAD |
|
|
rs763726231 CA3082143 |
170 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897182121 CA107166879 |
172 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752628587 CA3082141 |
173 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107165958 rs990820908 |
177 | M>T | No |
ClinGen TOPMed |
|
|
rs575225862 CA107165957 |
181 | S>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3082125 rs777547604 |
181 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA358378969 rs1348920926 |
182 | M>I | No |
ClinGen gnomAD |
|
|
rs1451378103 CA358378972 |
182 | M>T | No |
ClinGen gnomAD |
|
|
rs755622901 CA3082124 |
182 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1056606910 CA107165956 |
184 | V>I | No |
ClinGen TOPMed |
|
|
CA358378948 rs1248760617 |
185 | S>N | No |
ClinGen gnomAD |
|
|
CA3082121 rs754957484 |
186 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3082122 rs767416365 |
186 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1227044742 CA358378936 |
187 | S>C | No |
ClinGen gnomAD |
|
|
CA3082118 rs762689107 |
188 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082119 rs762689107 |
188 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201460766 CA358378926 |
189 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3082116 rs760723682 |
189 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3082115 rs760723682 |
189 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201460766 CA3082117 |
189 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358378923 rs1426423540 |
190 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3082113 rs771974861 |
191 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868387317 CA107165955 |
197 | C>S | No |
ClinGen Ensembl |
|
|
COSM480883 rs1426652020 CA358378857 |
199 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1002369743 CA107165954 |
199 | L>P | No |
ClinGen TOPMed |
|
|
rs111500641 CA3082110 |
202 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs961568869 CA107165953 |
204 | I>V | No |
ClinGen Ensembl |
|
|
rs749641327 CA3082108 |
205 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1221027690 CA358378809 |
207 | V>D | No |
ClinGen TOPMed |
|
|
rs768960163 CA107165952 |
208 | P>S | No |
ClinGen Ensembl |
|
|
rs146354788 CA3082107 |
210 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3082106 rs755781785 |
211 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1560736169 CA358378780 |
212 | Q>* | No |
ClinGen Ensembl |
|
|
rs879154647 CA107165951 |
215 | K>* | No |
ClinGen Ensembl |
|
|
rs1189432827 CA358378734 |
217 | Q>E | No |
ClinGen gnomAD |
|
|
CA3082091 rs771563139 |
218 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186693425 COSM1427173 CA3082090 |
218 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3082088 rs769987461 |
219 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3082087 rs369237257 |
220 | N>K | No |
ClinGen ESP ExAC |
|
|
rs768264326 CA3082085 |
222 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750294561 CA3082081 |
224 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358378684 rs750294561 |
224 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082083 rs754656918 |
224 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750294561 CA3082082 |
224 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411639479 CA358378666 |
227 | G>E | No |
ClinGen gnomAD |
|
|
rs372955852 CA3082078 |
228 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767602031 CA3082077 |
232 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358378626 rs751679927 |
233 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs751679927 CA3082075 |
233 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs751679927 CA3082076 |
233 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3082070 rs542538923 |
234 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3082071 COSM1051346 rs542538923 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs554325259 CA3082072 |
234 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325703053 CA358378621 |
235 | L>S | No |
ClinGen TOPMed |
|
|
CA107165556 rs1031860373 |
235 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3082068 rs768179053 |
239 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs746604938 CA3082067 |
240 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107165555 rs1006772141 |
241 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA358378569 rs1395440979 |
243 | M>T | No |
ClinGen gnomAD |
|
|
rs1304956488 CA358378558 |
244 | Y>* | No |
ClinGen TOPMed |
|
|
rs779543772 CA3082066 |
244 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA787915642 rs1290388526 |
246 | Y>* | No |
ClinGen TOPMed |
|
|
rs1026857493 CA107165554 |
246 | Y>F | No |
ClinGen TOPMed |
|
|
CA107165079 rs955216926 |
249 | W>* | No |
ClinGen gnomAD |
|
|
rs1000324650 CA107165553 |
249 | W>R | No |
ClinGen Ensembl |
|
|
rs35186416 CA107165078 |
256 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3082048 rs762294818 |
259 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358377876 rs1219749280 |
267 | P>S | No |
ClinGen TOPMed |
|
|
CA107162067 rs924322381 |
271 | C>Y | No |
ClinGen Ensembl |
|
|
rs759145731 CA3082020 |
273 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs978829523 CA107162066 |
274 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 276 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280577283 CA358377728 |
277 | V>A | No |
ClinGen TOPMed |
|
|
rs773748267 CA3082019 |
278 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1248074348 CA358377719 |
279 | I>T | No |
ClinGen TOPMed |
|
|
rs770409520 CA3082017 |
279 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082016 rs749215424 |
280 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs148076676 CA3082015 |
281 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148076676 CA107162065 |
281 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372076565 CA3082014 |
282 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3082013 rs747923775 |
283 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3082011 rs546073661 |
284 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA107162064 rs947226842 |
286 | V>E | No |
ClinGen TOPMed |
|
|
CA358377672 rs1183982671 |
287 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746033302 CA3082010 |
288 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082009 rs778886421 |
290 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA107162063 rs914328452 |
290 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754350717 CA3082007 |
291 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3082006 rs778221367 |
291 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3082005 rs144628608 |
292 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3082004 rs753044537 |
294 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1449947414 CA358377581 |
302 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs556548698 CA3082001 |
303 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556548698 CA358377574 |
303 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1407859886 CA358377575 |
303 | V>L | No |
ClinGen gnomAD |
|
|
rs765828812 CA3082000 |
304 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA358377544 rs1186120021 |
306 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779699261 CA107161883 |
310 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779699261 CA3081980 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3081981 rs762441011 |
310 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358377517 rs1490309336 |
311 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA358377509 rs1225438162 |
313 | G>R | No |
ClinGen gnomAD |
|
|
rs761871182 CA3081978 |
314 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358377491 rs1290015675 |
315 | F>C | No |
ClinGen gnomAD |
|
|
rs200020771 CA3081977 |
316 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3081976 rs768381469 |
318 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400378870 CA358377466 |
319 | V>G | No |
ClinGen gnomAD |
|
|
rs1271649093 CA358377471 |
319 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3081974 rs760898836 |
320 | P>L | Variant assessed as Somatic; 0.0002322 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358377462 rs760898836 |
320 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs76702927 CA3081971 |
321 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773286669 CA3081970 |
322 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3081969 rs769826260 |
323 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1560719617 CA358377427 |
326 | S>Y | No |
ClinGen Ensembl |
|
|
rs1260321256 CA358377423 |
327 | C>R | No |
ClinGen Ensembl |
|
|
CA107161882 rs1029979827 |
329 | G>D | No |
ClinGen TOPMed |
|
|
rs1408371107 CA358377389 |
331 | M>I | No |
ClinGen gnomAD |
|
|
rs1421917876 CA358377387 |
332 | N>D | No |
ClinGen gnomAD |
|
|
rs748677483 CA3081968 |
333 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA107161881 rs907576884 |
335 | V>L | No |
ClinGen Ensembl |
|
|
rs781708991 CA3081967 |
338 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1265464760 CA358377339 |
340 | R>G | No |
ClinGen gnomAD |
|
|
rs1203215923 CA358377337 |
340 | R>K | No |
ClinGen gnomAD |
|
|
rs773374976 CA3081951 |
343 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943027722 CA107161812 |
343 | Y>N | No |
ClinGen Ensembl |
|
|
rs1332162983 CA358377293 |
345 | A>T | No |
ClinGen gnomAD |
|
|
rs748199222 CA3081949 |
345 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769196383 CA3081947 |
347 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358377280 rs1466862630 |
347 | R>Q | No |
ClinGen gnomAD |
|
|
CA3081945 rs188269211 |
350 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358377254 rs1421433796 |
351 | L>F | No |
ClinGen gnomAD |
|
|
rs1381576973 CA358377246 |
352 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA107161811 rs144873646 COSM107279 |
352 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs745562084 CA3081943 |
354 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs145924460 CA3081942 |
355 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1041820324 CA107161810 |
355 | L>R | No |
ClinGen TOPMed |
|
|
rs756894220 CA3081941 |
356 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1259964664 CA358377203 |
359 | H>R | No |
ClinGen gnomAD |
|
|
CA3081939 rs577147876 |
361 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577147876 CA358377191 |
361 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756079856 CA358377190 |
361 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756079856 CA3081938 |
361 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358377188 rs142104646 |
362 | K>* | No |
ClinGen ESP TOPMed |
|
|
rs142104646 CA107161809 |
362 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA358377160 rs767368764 |
365 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3081936 rs767368764 |
365 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1380750353 CA358377129 |
367 | P>L | No |
ClinGen gnomAD |
|
|
CA3081934 rs773463103 |
369 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA358377094 rs1384651118 |
370 | I>N | No |
ClinGen gnomAD |
|
|
rs923132465 CA107161637 |
374 | P>L | No |
ClinGen Ensembl |
|
|
rs1489846273 CA358376954 |
374 | P>T | No |
ClinGen gnomAD |
|
|
CA358376944 rs138007034 |
375 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1210519472 CA358376941 |
376 | T>A | No |
ClinGen gnomAD |
|
|
rs1338903019 CA358376929 |
377 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3081914 rs146944326 |
378 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220740650 CA358376910 |
380 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753955434 CA3081912 |
382 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1333101842 CA358376886 |
384 | D>H | No |
ClinGen TOPMed |
|
|
rs373200291 CA3081910 |
386 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3081909 rs776128194 |
387 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA358376848 rs1386839329 |
389 | L>F | No |
ClinGen gnomAD |
|
|
CA3081908 rs772692022 |
390 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358376807 rs1424013813 |
395 | A>S | No |
ClinGen gnomAD |
|
|
CA3081904 rs771381126 |
396 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1479379166 CA358376802 |
396 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs748993761 CA3081903 |
397 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 397 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201882877 CA358376788 |
398 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3081902 rs201882877 |
398 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1248555102 CA358376780 |
399 | F>C | No |
ClinGen gnomAD |
|
|
rs769386630 CA3081901 |
399 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA358376759 rs1200713053 |
403 | A>T | No |
ClinGen gnomAD |
|
|
CA3081900 rs747608707 |
408 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA358376720 rs1262845464 |
409 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1347662520 CA358376709 COSM1051343 |
411 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs140100905 CA3081898 |
411 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs959344766 CA107161634 |
412 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA358376684 rs1483212679 |
414 | C>* | No |
ClinGen TOPMed |
|
|
CA358376688 rs1334620660 |
414 | C>Y | No |
ClinGen gnomAD |
|
|
CA3081897 rs751434578 |
416 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA358376659 rs1232265353 |
418 | H>P | No |
ClinGen gnomAD |
|
|
CA107161633 rs1023283336 |
418 | H>Y | No |
ClinGen TOPMed |
|
|
rs779858947 CA3081896 |
419 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM241672 rs1400584009 CA358376652 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1400584009 CA358376651 |
419 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3081894 rs151133984 |
422 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756294364 CA3081872 |
427 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 428 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA107161492 rs777930250 |
429 | A>T | No |
ClinGen Ensembl |
|
|
rs752926132 CA3081871 |
429 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358376559 rs1290447222 |
432 | S>A | No |
ClinGen gnomAD |
|
|
rs149003210 CA3081868 |
436 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358376526 rs1318969250 |
437 | F>L | No |
ClinGen TOPMed |
|
|
rs1429766589 CA358376513 |
438 | M>I | No |
ClinGen gnomAD |
|
|
CA3081867 rs191729852 |
440 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953758832 CA107161491 |
441 | L>P | No |
ClinGen Ensembl |
|
|
CA358376482 rs1400580222 |
443 | L>F | No |
ClinGen gnomAD |
|
|
CA358376474 rs1364984898 |
444 | Y>C | No |
ClinGen gnomAD |
|
|
CA358376477 rs1578631311 |
444 | Y>N | No |
ClinGen Ensembl |
|
|
rs770398892 CA107161489 |
445 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA358376459 rs1414792259 |
446 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3081864 rs765575983 |
452 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3081865 rs533470635 |
452 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358376418 rs1194007668 |
453 | G>S | No |
ClinGen TOPMed |
|
|
rs1265840425 CA358376409 |
454 | F>S | No |
ClinGen gnomAD |
|
|
rs776220735 CA3081862 |
455 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157537714 CA358376397 |
456 | I>L | No |
ClinGen TOPMed |
|
|
CA358376378 rs1402111405 |
459 | T>N | No |
ClinGen TOPMed |
|
|
CA3081859 rs746515025 |
459 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3081858 rs775459597 |
461 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 461 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358376361 rs1290132500 |
462 | P>S | No |
ClinGen gnomAD |
|
|
CA3081857 rs771913516 COSM1427172 |
463 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs565105913 CA107161487 |
465 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358376344 rs1279883951 |
465 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM263745 CA3081854 rs757026554 |
466 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1438684712 CA358376320 |
468 | I>T | No |
ClinGen gnomAD |
|
|
CA358376316 rs1350585935 |
469 | I>V | No |
ClinGen gnomAD |
|
|
rs748428954 CA3081853 |
470 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426172276 COSM3825225 CA358376298 |
471 | D>G | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3081852 rs781535980 |
471 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3081851 rs755177794 |
472 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA107161486 rs1022715041 |
474 | P>S | No |
ClinGen TOPMed |
|
|
rs751677780 CA358376273 |
475 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751677780 CA3081850 |
475 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193487118 CA358376252 |
478 | R>G | No |
ClinGen gnomAD |
|
|
CA358376242 rs1489163390 |
479 | I>K | No |
ClinGen gnomAD |
|
|
rs766428287 CA3081849 |
480 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3081830 rs758458702 |
484 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA107160742 rs900684040 |
486 | R>G | No |
ClinGen Ensembl |
|
|
CA358377098 rs1310237554 |
487 | T>I | No |
ClinGen gnomAD |
|
|
rs1396893618 CA358377046 |
491 | I>T | No |
ClinGen gnomAD |
|
|
rs146095038 CA3081829 |
493 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539878831 CA3081828 |
496 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358377016 rs1304985197 |
496 | P>S | No |
ClinGen gnomAD |
|
|
CA358377012 rs939606225 |
497 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs939606225 CA107160741 |
497 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3081826 rs141122045 |
499 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358376994 rs1274358640 |
499 | D>G | No |
ClinGen TOPMed |
|
|
rs1417293922 CA358376991 |
500 | K>Q | No |
ClinGen gnomAD |
No associated diseases with Q9UPY5
No regional properties for Q9UPY5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UPY5 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| astrocyte projection | A prolongation or process extending from the soma of an astrocyte and wrapping around neurons. |
| brush border membrane | The portion of the plasma membrane surrounding the brush border. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cystine:glutamate antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: cystine(out) + glutamate(in) = cystine(in) + glutamate(out). |
| L-amino acid transmembrane transporter activity | Enables the transfer of an L-amino acid from one side of a membrane to the other. L-amino acids are the L-enantiomers of amino acids. |
29 GO annotations of biological process
| Name | Definition |
|---|---|
| adult behavior | Behavior in a fully developed and mature organism. |
| cellular response to oxidative stress | 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| dipeptide import across plasma membrane | The directed movement of a dipeptide from outside of a cell, across the plasma membrane and into the cytosol. |
| glutamate homeostasis | Any process involved in the maintenance of an internal steady state of glutamate within an organism or cell. |
| glutathione metabolic process | The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. |
| glutathione transmembrane transport | A process in which glutathione is transported across a membrane. |
| 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. |
| lens fiber cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities. |
| limb development | The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin. |
| lung alveolus development | The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| negative regulation of oxidative stress-induced neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| regulation of AMPA glutamate receptor clustering | Any process that modulates the frequency, rate or extent of AMPA glutamate receptor clustering. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of cysteine metabolic process | Any process that modulates the frequency, rate or extent of cysteine metabolic process. |
| regulation of glutamate metabolic process | Any process that modulates the frequency, rate or extent of glutamate metabolic process. |
| regulation of glutathione biosynthetic process | Any process that modulates the frequency, rate or extent of glutathione biosynthetic process. |
| regulation of melanin biosynthetic process | Any process that alters the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of melanin. |
| regulation of neutrophil apoptotic process | Any process that modulates the frequency, rate, or extent of neutrophil apoptotic process. |
| regulation of protein transport | Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of synapse organization | Any process that modulates the physical form of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| response to nicotine | 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 nicotine stimulus. |
| response to organic cyclic compound | 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 organic cyclic compound stimulus. |
| response to redox state | 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 redox state. Redox state refers to the balance of oxidized versus reduced forms of electron donors and acceptors in an organelle, cell or organ; plastoquinone, glutathione (GSH/GSSG), and nicotinamide nucleotides (NAD+/NADH and NADP+/NADPH) are among the most important. |
| response to toxic substance | 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 toxic stimulus. |
| striatum development | The progression of the striatum over time from its initial formation until its mature state. The striatum is a region of the forebrain consisting of the caudate nucleus, putamen and fundus striati. |
| ventricular system development | The process whose specific outcome is the progression of the brain ventricular system over time, from its formation to the mature structure. The brain ventricular system consists of four communicating cavities within the brain that are continuous with the central canal of the spinal cord. These cavities include two lateral ventricles, the third ventricle and the fourth ventricle. Cerebrospinal fluid fills the ventricles and is produced by the choroid plexus. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P63115 | Slc7a10 | Asc-type amino acid transporter 1 | Mus musculus (Mouse) | PR |
| Q9QXW9 | Slc7a8 | Large neutral amino acids transporter small subunit 2 | Mus musculus (Mouse) | PR |
| Q9FFL1 | RMV1 | Polyamine transporter RMV1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVRKPVVSTI | SKGGYLQGNV | NGRLPSLGNK | EPPGQEKVQL | KRKVTLLRGV | SIIIGTIIGA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GIFISPKGVL | QNTGSVGMSL | TIWTVCGVLS | LFGALSYAEL | GTTIKKSGGH | YTYILEVFGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPAFVRVWVE | LLIIRPAATA | VISLAFGRYI | LEPFFIQCEI | PELAIKLITA | VGITVVMVLN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SMSVSWSARI | QIFLTFCKLT | AILIIIVPGV | MQLIKGQTQN | FKDAFSGRDS | SITRLPLAFY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YGMYAYAGWF | YLNFVTEEVE | NPEKTIPLAI | CISMAIVTIG | YVLTNVAYFT | TINAEELLLS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NAVAVTFSER | LLGNFSLAVP | IFVALSCFGS | MNGGVFAVSR | LFYVASREGH | LPEILSMIHV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKHTPLPAVI | VLHPLTMIML | FSGDLDSLLN | FLSFARWLFI | GLAVAGLIYL | RYKCPDMHRP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKVPLFIPAL | FSFTCLFMVA | LSLYSDPFST | GIGFVITLTG | VPAYYLFIIW | DKKPRWFRIM |
| 490 | 500 | ||||
| SEKITRTLQI | ILEVVPEEDK | L |