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 P31641

Entry ID Method Resolution Chain Position Source
AF-P31641-F1 Predicted AlphaFoldDB

339 variants for P31641

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001089880
RCV001449581
rs754954058
VAR_083336
78 A>E Hypertaurinuric cardiomyopathy Retinal degeneration HTRDC; severely decreased taurine transport activity in patient cells; does not affect cell membrane localization [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
RCV001449580
VAR_083337
RCV001089879
rs1700769766
399 G>V Hypertaurinuric cardiomyopathy Retinal degeneration HTRDC; decreased taurine transport activity; does not affect protein abundance; does not affect cell membrane localization [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
CA351543447
rs1320425471
2 A>T No ClinGen
gnomAD
rs767752911
CA2268076
8 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA69794783
rs938241915
8 Q>R No ClinGen
Ensembl
rs756211186
CA2268078
9 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs777774845
CA2268079
9 C>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 12 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs894127539
CA351543557
17 I>L No ClinGen
TOPMed
CA69794845
VAR_011767
rs1042350
17 I>M No ClinGen
UniProt
Ensembl
dbSNP
rs894127539
CA69794843
17 I>V No ClinGen
TOPMed
rs1042351
CA69794853
VAR_011768
18 L>V No ClinGen
UniProt
dbSNP
gnomAD
rs1559298038
CA351543605
21 S>A No ClinGen
Ensembl
rs1014442973
CA69794856
21 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2268081
rs56135743
23 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA351543658
rs1269202473
25 S>T No ClinGen
gnomAD
rs1435119922
CA351543698
28 T>M No ClinGen
TOPMed
gnomAD
rs375588796
CA351543708
29 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375588796
CA2268084
29 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746221976
CA2268083
29 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs780928107
CA2268085
30 P>H No ClinGen
ExAC
gnomAD
CA2268086
rs747752099
31 E>* No ClinGen
ExAC
gnomAD
CA351543728
rs747752099
31 E>Q No ClinGen
ExAC
gnomAD
CA2268088
rs772779498
33 E>K No ClinGen
ExAC
TOPMed
CA69794882
rs147424926
36 G>R No ClinGen
ESP
TOPMed
rs763048151
CA2268089
37 K>E No ClinGen
ExAC
gnomAD
rs770884063
CA2268090
39 P>A No ClinGen
ExAC
gnomAD
rs571621473
CA2268091
39 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 43 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369985102
CA2268094
48 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369985102
CA69794922
48 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000998004
CA351543978
rs1364177670
49 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
NCI-TCGA
TOPMed
dbSNP
rs1318976460
CA351543994
51 V>L No ClinGen
TOPMed
rs576174099
CA2268100
57 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1397163579
CA351544041
59 V>M No ClinGen
TOPMed
rs373450965
CA2268105
64 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351544090
rs1219059633
66 R>C No ClinGen
gnomAD
CA351544092
rs1195960775
66 R>H No ClinGen
TOPMed
CA2268106
rs777479971
68 P>R No ClinGen
ExAC
gnomAD
rs1188703308
CA351544108
69 Y>H No ClinGen
gnomAD
rs1239740889
CA351544117
70 L>F No ClinGen
gnomAD
CA351544141
rs1420517511
73 K>R No ClinGen
TOPMed
gnomAD
CA351544156
rs1471788439
75 G>D No ClinGen
gnomAD
rs1288395468
CA351544228
77 G>D No ClinGen
TOPMed
rs754954058
CA2268189
78 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs752635304
CA2268191
81 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1221379240
CA351544260
82 P>L No ClinGen
TOPMed
TCGA novel
rs1389920231
CA351544271
84 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
CA69797231
rs187304824
87 L>P No ClinGen
1000Genomes
gnomAD
CA351544294
rs1398818150
87 L>V No ClinGen
TOPMed
rs755880393
CA2268192
88 F>L No ClinGen
ExAC
gnomAD
rs1340798819
CA351544303
88 F>L No ClinGen
TOPMed
CA351544318
rs1432704813
91 G>S No ClinGen
TOPMed
rs1305679234
CA351544335
94 V>M No ClinGen
TOPMed
gnomAD
rs1363070760
CA351544356
96 F>L No ClinGen
TOPMed
gnomAD
CA2268195
rs771266868
99 I>V No ClinGen
ExAC
gnomAD
rs1448014656
CA351544379
100 I>V No ClinGen
TOPMed
gnomAD
rs779185771
CA2268196
101 I>V No ClinGen
ExAC
gnomAD
TCGA novel 102 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1227969356
CA351544403
103 Q>H No ClinGen
gnomAD
rs1368341643
CA351544462
112 C>S No ClinGen
gnomAD
CA2268198
rs772239459
114 E>G No ClinGen
ExAC
CA2268197
rs368267241
114 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA69797306
rs140925115
115 K>N No ClinGen
ESP
gnomAD
CA2268199
rs775885353
118 P>R No ClinGen
ExAC
gnomAD
rs1034942334
CA69797352
121 S>A No ClinGen
Ensembl
CA2268219
rs776908877
123 I>N No ClinGen
ExAC
gnomAD
rs754658920
CA69798898
123 I>V No ClinGen
Ensembl
CA351545049
rs1340576249
124 G>S No ClinGen
gnomAD
rs974566918
CA69798935
125 Y>F No ClinGen
TOPMed
CA2268222
rs774010319
127 S>T No ClinGen
ExAC
gnomAD
rs62233560
CA2268224
128 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1400077213
CA351545088
130 I>T No ClinGen
TOPMed
CA351545085
rs1291678747
130 I>V No ClinGen
gnomAD
CA351545091
rs1323802034
131 V>L No ClinGen
gnomAD
rs1213893387
CA351545101
132 S>C No ClinGen
gnomAD
CA351545149
rs777815176
139 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA2268226
rs760581480
139 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs753788057
CA2268228
140 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs765067708
CA2268230
141 I>V No ClinGen
ExAC
gnomAD
rs1398641041
CA351545170
143 A>V No ClinGen
TOPMed
gnomAD
CA69799001
rs993279878
144 W>* No ClinGen
TOPMed
rs1157648327
CA351545208
149 L>M No ClinGen
TOPMed
gnomAD
CA351545209
rs1157648327
149 L>V No ClinGen
TOPMed
gnomAD
CA2268231
rs750677480
150 F>V No ClinGen
ExAC
gnomAD
rs1421013671
CA351545224
151 Q>R No ClinGen
gnomAD
rs746949208
CA2268233
157 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA351545285
rs1370867471
160 A>T No ClinGen
gnomAD
rs781685032
CA2268236
168 T>I No ClinGen
ExAC
CA351545356
rs1286880466
169 P>H No ClinGen
TOPMed
rs1005174469
CA69799057
170 H>Y No ClinGen
gnomAD
CA351545379
rs1465977145
172 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs948922400
CA69799062
172 M>R No ClinGen
TOPMed
rs1285603719
CA351545375
172 M>V No ClinGen
gnomAD
rs767489625
CA2268238
177 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2268239
rs554039615
177 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA351545450
rs1211410002
182 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 185 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351545484
rs1335864670
186 I>M No ClinGen
TOPMed
gnomAD
CA351545483
rs1468956193
186 I>S No ClinGen
gnomAD
rs1239625158
CA351545480
186 I>V No ClinGen
gnomAD
rs369822270
CA69799075
187 S>C No ClinGen
ESP
TOPMed
gnomAD
rs745583072
CA2268240
187 S>N No ClinGen
ExAC
gnomAD
CA69799107
rs774906046
188 S>C No ClinGen
ExAC
gnomAD
rs774906046
CA2268242
188 S>Y No ClinGen
ExAC
gnomAD
CA2268244
rs768003614
189 T>A No ClinGen
ExAC
gnomAD
rs768003614
CA351545495
189 T>P No ClinGen
ExAC
gnomAD
CA351545514
rs1415021405
191 F>L No ClinGen
TOPMed
gnomAD
CA351545521
rs1320201655
192 T>I No ClinGen
TOPMed
rs761777238
CA2268246
193 S>C No ClinGen
ExAC
gnomAD
CA351545549
rs1207552494
197 E>A No ClinGen
gnomAD
CA351545548
rs1378008067
197 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA351545546
rs1378008067
197 E>Q No ClinGen
gnomAD
TCGA novel 200 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351545597
rs1208382537
201 R>C No ClinGen
gnomAD
CA2268272
rs138163519
201 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200454118
CA351545608
CA351545607
202 N>K No ClinGen
TOPMed
gnomAD
CA351545604
rs1451753524
202 N>S No ClinGen
gnomAD
CA2268273
rs767645569
203 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2268276
rs778286920
205 S>N No ClinGen
ExAC
gnomAD
rs765906100
CA69757218
205 S>R No ClinGen
TOPMed
TCGA novel 206 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2268280
rs746743487
208 P>S No ClinGen
ExAC
gnomAD
rs747629906
CA2268283
211 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1399975164
CA351545667
212 H>R No ClinGen
gnomAD
CA351545665
rs1338494803
212 H>Y No ClinGen
gnomAD
CA2268285
rs377494450
215 S>C No ClinGen
ESP
ExAC
gnomAD
rs1559305145
CA351545714
219 D>G No ClinGen
Ensembl
TCGA novel 219 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2268288
rs774009626
221 A>G No ClinGen
ExAC
gnomAD
CA2268287
rs770761525
221 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2268289
rs759805633
226 L>V No ClinGen
ExAC
gnomAD
CA69757383
rs200442035
230 V>L No ClinGen
TOPMed
gnomAD
rs201094151
CA2268292
239 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2268293
rs764103908
240 R>G No ClinGen
ExAC
gnomAD
CA2268294
rs754374495
240 R>K No ClinGen
ExAC
gnomAD
CA2268295
rs757701813
241 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA351545895
rs1307447325
245 V>I No ClinGen
gnomAD
rs1375781532
CA351545902
246 V>F No ClinGen
TOPMed
gnomAD
rs1375781532
CA351545900
246 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1574956782
CA351545909
247 Y>S No ClinGen
Ensembl
CA2268313
rs79994970
249 T>P No ClinGen
ExAC
gnomAD
rs758855513
CA2268315
255 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA351545977
rs1196596872
257 L>F No ClinGen
gnomAD
rs755821733
CA2268318
261 L>V No ClinGen
ExAC
gnomAD
rs748718936
CA2268320
263 R>* No ClinGen
ExAC
gnomAD
rs1471241843
CA351546027
266 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA351546038
rs1400003153
268 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1364995487
CA351546045
270 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1385736873
CA351546053
271 G>S No ClinGen
gnomAD
CA2268331
rs761829964
272 A>S Variant assessed as Somatic; 0.0003734 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761829964
CA2268330
272 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA351546067
rs1257227979
274 I>L No ClinGen
gnomAD
TCGA novel 274 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763483440
CA351546074
275 K>E No ClinGen
ExAC
gnomAD
rs763483440
CA2268333
275 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 279 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351546131
rs1574956909
283 T>P No ClinGen
Ensembl
CA351546135
rs1487591288
283 T>S No ClinGen
TOPMed
gnomAD
CA2268337
rs182294541
284 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA351546139
rs1268135744
284 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 287 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA69767216
rs867860146
291 W>* No ClinGen
Ensembl
CA69767225
rs779996001
293 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs200333330
CA2268361
294 A>T No ClinGen
ExAC
gnomAD
CA351546234
rs1282264670
296 T>S No ClinGen
gnomAD
CA351546273
rs1378139236
302 Y>H No ClinGen
gnomAD
rs1256837057
CA351546310
307 G>A No ClinGen
TOPMed
rs977467506
CA69767256
308 A>T No ClinGen
TOPMed
TCGA novel 309 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA69767261
rs923056615
309 M>V No ClinGen
TOPMed
CA2268363
rs780969231
310 T>I No ClinGen
ExAC
gnomAD
CA351546372
rs1218521623
317 K>E No ClinGen
gnomAD
CA351546376
rs1352953035
317 K>M No ClinGen
Ensembl
CA351546383
rs1395974786
318 Y>C No ClinGen
gnomAD
CA69767304
rs1043125862
320 Y>C No ClinGen
Ensembl
CA2268365
rs756343038
320 Y>H No ClinGen
ExAC
gnomAD
rs778046880
CA2268366
322 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs752512226
CA2268384
325 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA2268385
rs756442467
333 N>S No ClinGen
ExAC
gnomAD
CA351546506
rs1559310021
334 S>T No ClinGen
Ensembl
rs1021849751
CA69767558
339 V>G No ClinGen
TOPMed
gnomAD
TCGA novel 340 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351546563
rs1440959522
343 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA351546570
rs1424383474
344 I>V No ClinGen
gnomAD
CA69767566
rs200681833
345 F>C No ClinGen
1000Genomes
rs1459868058
CA351546617
351 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 352 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757420710
CA2268388
356 G>E No ClinGen
ExAC
gnomAD
rs1336517548
CA351546690
361 D>V No ClinGen
gnomAD
TCGA novel 364 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769012111
CA2268412
372 I>T No ClinGen
ExAC
gnomAD
CA2268413
rs781533049
379 T>A No ClinGen
ExAC
gnomAD
rs1033304540
CA69771677
380 M>V No ClinGen
TOPMed
gnomAD
CA69771698
rs1011296537
384 P>R No ClinGen
TOPMed
CA2268416
rs141030841
384 P>S No ClinGen
ESP
ExAC
gnomAD
rs1267212841
CA351546890
390 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 390 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1425397943
CA351546896
391 F>L No ClinGen
gnomAD
rs1390226414 392 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222131893
CA351546913
393 I>F No ClinGen
TOPMed
rs1390226414 393 I>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1574962260
CA351546974
402 S>N No ClinGen
Ensembl
rs1230075779
CA351547025
407 V>A No ClinGen
TOPMed
CA351547021
rs1482196989
407 V>I No ClinGen
gnomAD
CA2268443
rs761724380
411 I>M No ClinGen
ExAC
gnomAD
CA351547102
rs1418587117
419 P>T No ClinGen
gnomAD
CA351547110
rs1308796937
420 S>A No ClinGen
TOPMed
CA351547116
rs1159833186
421 F>L No ClinGen
gnomAD
rs560112925
CA351547141
424 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351547148
rs1172409231
426 Y>N No ClinGen
gnomAD
rs763081342
CA2268446
427 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA69777054
rs981370054
428 R>W No ClinGen
TOPMed
rs1391469650
CA351547195
433 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs763840556
CA2268450
435 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs763840556
CA2268449
435 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA2268452
rs141131824
438 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141131824
CA2268453
438 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351547261
rs1196462270
443 G>R No ClinGen
gnomAD
rs757969440
CA2268455
445 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA2268456
rs201003777
448 T>M No ClinGen
1000Genomes
ExAC
gnomAD
rs780841499
CA2268476
451 G>A No ClinGen
ExAC
gnomAD
rs1367433173
CA351547533
452 M>V No ClinGen
gnomAD
rs200356672
CA351547556
453 Y>C No ClinGen
ExAC
gnomAD
rs200356672
CA2268477
453 Y>F No ClinGen
ExAC
gnomAD
CA2268478
rs769592190
458 F>C No ClinGen
ExAC
gnomAD
rs773099960
CA2268479
461 Y>H No ClinGen
ExAC
CA351547708
rs1216056597
465 G>S No ClinGen
gnomAD
CA351547719
rs1351428708
466 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA351547762
rs201130139
470 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA2268481
rs201130139
470 W>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 471 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759752158
CA2268483
473 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 478 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215052560
CA351547852
481 W>S No ClinGen
gnomAD
CA351547858
rs1242006847
482 I>V No ClinGen
gnomAD
CA69778761
rs1051579465
487 N>D No ClinGen
TOPMed
gnomAD
CA2268496
rs752113333
488 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs755610105
CA2268497
489 Y>F No ClinGen
ExAC
gnomAD
rs1223953384
CA351548002
490 D>G No ClinGen
TOPMed
CA351547994
rs1262277575
490 D>H No ClinGen
TOPMed
rs1325900360
CA351548010
491 G>R No ClinGen
TOPMed
rs908141949
CA69778772
492 I>M No ClinGen
TOPMed
CA351548027
rs1268680274
492 I>T No ClinGen
TOPMed
rs942843351
CA69778779
493 E>Q No ClinGen
TOPMed
rs777593198
CA2268498
495 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1451100423
CA351548081
496 I>V No ClinGen
TOPMed
CA2268499
rs749190243
498 Y>C No ClinGen
ExAC
gnomAD
rs1402361794
CA351548113
499 R>Q No ClinGen
TOPMed
gnomAD
CA2268500
rs770780822
499 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 500 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2268502
rs746138760
CA351548131
501 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA69778812
rs919565499
502 P>L No ClinGen
Ensembl
TCGA novel 503 W>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 507 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2268503
rs772252157
509 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2268504
rs775745972
510 V>M No ClinGen
ExAC
gnomAD
rs1440194761
CA351548319
515 L>P No ClinGen
gnomAD
rs200367448
CA69778832
517 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
rs768726455
CA2268506
517 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA351548637
rs1397408078
519 C>F No ClinGen
gnomAD
rs763562406
CA2268534
523 S>L No ClinGen
ExAC
gnomAD
rs554946637
CA2268537
525 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1227091577
CA351548749
526 K>Q No ClinGen
gnomAD
CA2268539
rs141254266
528 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1280855809
CA351548871
533 N>S No ClinGen
TOPMed
CA351548877
rs1434198057
534 K>E No ClinGen
TOPMed
CA351548920
rs1349279779
535 T>I No ClinGen
TOPMed
rs755202696
CA2268542
537 V>M No ClinGen
ExAC
gnomAD
rs1259512423
CA351549006
539 P>R No ClinGen
gnomAD
rs781165466
CA2268543
540 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA351549051
rs1373921382
543 I>F No ClinGen
gnomAD
rs141978861
CA351549054
543 I>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2268545
rs141978861
543 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771265506
CA2268548
548 S>I No ClinGen
ExAC
gnomAD
TCGA novel 549 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1383368652
CA351549127
549 L>V No ClinGen
gnomAD
CA351549157
rs1382019702
551 L>F No ClinGen
gnomAD
CA2268549
rs774758154
554 M>V No ClinGen
ExAC
gnomAD
CA2268550
rs760287133
555 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs41284017
CA2268552
557 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2268553
rs200411977
560 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs766133222
CA2268557
562 V>I No ClinGen
ExAC
gnomAD
rs751335186
CA2268558
563 I>T No ClinGen
ExAC
gnomAD
rs1329505618
CA351549364
564 R>C No ClinGen
TOPMed
rs369383563
CA351549367
564 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369383563
CA2268559
564 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351549372
rs1466454467
565 L>F No ClinGen
TOPMed
gnomAD
CA351549403
rs1182012855
567 Q>K No ClinGen
gnomAD
rs1038857154
CA69781618
567 Q>R No ClinGen
TOPMed
gnomAD
CA69781629
rs901778371
569 E>D No ClinGen
Ensembl
CA2268560
rs781495760
571 P>L No ClinGen
ExAC
gnomAD
CA351550368
rs1222744743
577 K>Q No ClinGen
gnomAD
CA2268590
rs769402505
577 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA351550398
rs1574972868
578 Y>S No ClinGen
Ensembl
CA351550423
rs772809301
581 T>I No ClinGen
ExAC
gnomAD
rs772809301
CA2268591
581 T>N No ClinGen
ExAC
gnomAD
CA351550421
rs1574972886
581 T>P No ClinGen
Ensembl
TCGA novel 583 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770286335
CA2268593
583 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1574972904
CA351550443
584 E>D No ClinGen
Ensembl
rs774349816
CA2268594
586 N>S No ClinGen
ExAC
gnomAD
CA351550454
rs774349816
586 N>T No ClinGen
ExAC
gnomAD
CA351550460
rs1479735023
587 R>C No ClinGen
TOPMed
gnomAD
rs376586731
CA2268595
587 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1574972957
CA351550480
590 V>G No ClinGen
Ensembl
rs767476496
CA2268596
590 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs564026953
CA69790611
591 E>G No ClinGen
gnomAD
CA2268598
rs370695700
592 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs550083440
CA2268599
592 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550083440
CA351550493
592 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368273326
CA2268601
593 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2268602
rs368273326
593 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1404239104
CA351550511
595 A>V No ClinGen
gnomAD
rs372250030
CA2268603
596 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758883547
CA2268604
597 P>A No ClinGen
ExAC
gnomAD
rs938126566
CA69790707
597 P>L No ClinGen
TOPMed
gnomAD
rs758883547
CA2268605
597 P>S No ClinGen
ExAC
gnomAD
CA69790714
rs376180429
600 S>F No ClinGen
ESP
TOPMed
CA351550537
rs1307130432
600 S>P No ClinGen
gnomAD
CA2268607
rs748074723
601 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2268608
rs748074723
601 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs200063855
CA2268609
601 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA351550550
rs200861169
603 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200861169
CA2268610
603 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200861169
CA2268611
603 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA69790757
rs776524083
604 M>V No ClinGen
TOPMed
CA2268612
rs151175565
605 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146953899
CA2268614
606 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 607 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770074983
CA2268616
607 A>T No ClinGen
ExAC
gnomAD
rs776981870
CA2268617
608 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs531399879
CA2268618
609 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA351550614
rs1158362031
613 H>R No ClinGen
TOPMed
rs367703038
CA2268620
614 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs534809733
CA2268621
615 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1361587019
CA351550624
615 I>V No ClinGen
TOPMed
gnomAD
CA351550629
rs1357401215
616 V>M No ClinGen
gnomAD
CA351550635
rs1245266539
617 E>K No ClinGen
gnomAD

No associated diseases with P31641

No regional properties for P31641

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P31641

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
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.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
GABA-ergic synapse A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
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.
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.
integral component of postsynaptic membrane The component of the postsynaptic 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.
microvillus membrane The portion of the plasma membrane surrounding a microvillus.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
plasma membrane protein complex Any protein complex that is part of the plasma membrane.

7 GO annotations of molecular function

Name Definition
alanine transmembrane transporter activity Enables the transfer of alanine from one side of a membrane to the other. Alanine is 2-aminopropanoic acid.
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.
amino acid:sodium symporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: amino acid(out) + Na+(out) = amino acid(in) + Na+(in).
gamma-aminobutyric acid transmembrane transporter activity Enables the transfer of gamma-aminobutyric acid from one side of a membrane to the other. Gamma-aminobutyric acid is 4-aminobutyrate (GABA).
gamma-aminobutyric acid:sodium symporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: gamma-aminobutyric acid(out) + Na+(out) + Cl-(out) = gamma-aminobutyric acid(in) + Na+(in) + Cl(in).
taurine transmembrane transporter activity Enables the transfer of taurine from one side of a membrane to the other. Taurine (2-aminoethanesulfonic acid) is a sulphur-containing amino acid derivative which is important in the metabolism of fats.
taurine:sodium symporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: taurine(out) + Na+(out) = taurine(in) + Na+(in).

13 GO annotations of biological process

Name Definition
alanine transport The directed movement of alanine, 2-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
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.
gamma-aminobutyric acid import The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a cell or organelle.
import across plasma membrane The directed movement of some substance from outside of a cell, across the plasma membrane and into the cytosol.
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.
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.
nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of necrotic cell death Any process that increases the rate, frequency or extent of necrotic cell death. Necrotic cell death is a cell death process that is morphologically characterized by a gain in cell volume (oncosis), swelling of organelles, plasma membrane rupture and subsequent loss of intracellular contents.
sodium ion transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
taurine transport The directed movement of taurine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
transport across blood-brain barrier The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.

26 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O18875 SLC6A8 Sodium- and chloride-dependent creatine transporter 1 Bos taurus (Bovine) PR
Q9MZ34 SLC6A6 Sodium- and chloride-dependent taurine transporter Bos taurus (Bovine) PR
Q00589 SLC6A6 Sodium- and chloride-dependent taurine transporter Canis lupus familiaris (Dog) (Canis familiaris) PR
Q9W4C5 NAAT1 Sodium-dependent nutrient amino acid transporter 1 Drosophila melanogaster (Fruit fly) PR
Q9Y345 SLC6A5 Sodium- and chloride-dependent glycine transporter 2 Homo sapiens (Human) PR
Q9UN76 SLC6A14 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) Homo sapiens (Human) PR
P30531 SLC6A1 Sodium- and chloride-dependent GABA transporter 1 Homo sapiens (Human) PR
P48029 SLC6A8 Sodium- and chloride-dependent creatine transporter 1 Homo sapiens (Human) PR
Q9NSD5 SLC6A13 Sodium- and chloride-dependent GABA transporter 2 Homo sapiens (Human) PR
P48066 SLC6A11 Sodium- and chloride-dependent GABA transporter 3 Homo sapiens (Human) PR
Q9H2J7 SLC6A15 Sodium-dependent neutral amino acid transporter B(0)AT2 Homo sapiens (Human) PR
Q9H1V8 SLC6A17 Sodium-dependent neutral amino acid transporter SLC6A17 Homo sapiens (Human) PR
Q9GZN6 SLC6A16 Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 Homo sapiens (Human) PR
P23975 SLC6A2 Sodium-dependent noradrenaline transporter Homo sapiens (Human) PR
P31650 Slc6a11 Sodium- and chloride-dependent GABA transporter 3 Mus musculus (Mouse) PR
P31648 Slc6a1 Sodium- and chloride-dependent GABA transporter 1 Mus musculus (Mouse) PR
Q9JMA9 Slc6a14 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) Mus musculus (Mouse) PR
Q8VBW1 Slc6a8 Sodium- and chloride-dependent creatine transporter 1 Mus musculus (Mouse) PR
Q761V0 Slc6a5 Sodium- and chloride-dependent glycine transporter 2 Mus musculus (Mouse) PR
P31649 Slc6a13 Sodium- and chloride-dependent GABA transporter 2 Mus musculus (Mouse) PR
O35316 Slc6a6 Sodium- and chloride-dependent taurine transporter Mus musculus (Mouse) PR
P31647 Slc6a11 Sodium- and chloride-dependent GABA transporter 3 Rattus norvegicus (Rat) PR
P23978 Slc6a1 Sodium- and chloride-dependent GABA transporter 1 Rattus norvegicus (Rat) PR
P28570 Slc6a8 Sodium- and chloride-dependent creatine transporter 1 Rattus norvegicus (Rat) PR
O76689 snf-6 Sodium-dependent acetylcholine transporter Caenorhabditis elegans PR
G5EBN9 snf-3 Sodium- and chloride-dependent betaine transporter Caenorhabditis elegans PR
10 20 30 40 50 60
MATKEKLQCL KDFHKDILKP SPGKSPGTRP EDEAEGKPPQ REKWSSKIDF VLSVAGGFVG
70 80 90 100 110 120
LGNVWRFPYL CYKNGGGAFL IPYFIFLFGS GLPVFFLEII IGQYTSEGGI TCWEKICPLF
130 140 150 160 170 180
SGIGYASVVI VSLLNVYYIV ILAWATYYLF QSFQKELPWA HCNHSWNTPH CMEDTMRKNK
190 200 210 220 230 240
SVWITISSTN FTSPVIEFWE RNVLSLSPGI DHPGSLKWDL ALCLLLVWLV CFFCIWKGVR
250 260 270 280 290 300
STGKVVYFTA TFPFAMLLVL LVRGLTLPGA GAGIKFYLYP DITRLEDPQV WIDAGTQIFF
310 320 330 340 350 360
SYAICLGAMT SLGSYNKYKY NSYRDCMLLG CLNSGTSFVS GFAIFSILGF MAQEQGVDIA
370 380 390 400 410 420
DVAESGPGLA FIAYPKAVTM MPLPTFWSIL FFIMLLLLGL DSQFVEVEGQ ITSLVDLYPS
430 440 450 460 470 480
FLRKGYRREI FIAFVCSISY LLGLTMVTEG GMYVFQLFDY YAASGVCLLW VAFFECFVIA
490 500 510 520 530 540
WIYGGDNLYD GIEDMIGYRP GPWMKYSWAV ITPVLCVGCF IFSLVKYVPL TYNKTYVYPN
550 560 570 580 590 600
WAIGLGWSLA LSSMLCVPLV IVIRLCQTEG PFLVRVKYLL TPREPNRWAV EREGATPYNS
610
RTVMNGALVK PTHIIVETMM