Q9UN76
PR
Gene name |
SLC6A14 |
Protein name |
Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) |
Names |
Amino acid transporter ATB0+, Solute carrier family 6 member 14 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11254 |
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 Q9UN76
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UN76-F1 | Predicted | AlphaFoldDB |
313 variants for Q9UN76
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA414339885 rs1556693305 |
2 | D>E | No |
ClinGen gnomAD |
|
|
CA414339880 rs782493010 |
2 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10497356 rs782493010 |
2 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414339892 rs1310305474 |
3 | K>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 3 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414339913 rs1556693308 |
6 | C>Y | No |
ClinGen gnomAD |
|
|
rs1242323829 CA414339923 |
7 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414339922 rs1242323829 |
7 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1014186286 CA334740766 |
10 | F>L | No |
ClinGen Ensembl |
|
|
CA334740767 rs1024620564 |
11 | K>N | No |
ClinGen gnomAD |
|
|
rs1556693309 CA414339955 |
12 | C>R | No |
ClinGen gnomAD |
|
|
CA414340006 rs1364163399 |
17 | K>E | No |
ClinGen TOPMed |
|
|
rs1556693382 CA414340011 |
17 | K>N | No |
ClinGen gnomAD |
|
|
CA334740826 rs939931813 |
18 | V>A | No |
ClinGen TOPMed |
|
|
CA334740825 rs782669005 |
18 | V>M | No |
ClinGen Ensembl |
|
|
CA10497367 rs782174929 |
19 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156847652 CA414340037 |
22 | S>* | No |
ClinGen TOPMed |
|
|
CA10497371 rs782763322 |
22 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10497372 rs781867196 |
26 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA334740828 rs61740723 |
27 | V>L | No |
ClinGen Ensembl |
|
|
CA10497375 rs781788334 |
33 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200267441 CA10497376 |
35 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1008296130 CA334740829 |
36 | R>C | No |
ClinGen Ensembl |
|
|
rs1479325102 CA414340139 |
36 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 40 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497377 rs782594996 |
43 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414340193 rs868936692 |
44 | D>N | No |
ClinGen Ensembl |
|
|
rs369863561 CA334740830 |
49 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1556693395 CA414340236 |
50 | I>V | No |
ClinGen gnomAD |
|
|
rs782664834 CA414340255 |
52 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10497381 rs782279504 |
55 | G>A | No |
ClinGen ExAC |
|
|
CA10497382 rs782441667 |
59 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA414340297 rs1556693400 |
59 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10497383 rs781928105 |
63 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782345629 CA10497385 |
68 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA334740831 rs1001091871 |
69 | N>S | No |
ClinGen Ensembl |
|
| rs373789886 | 72 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782017676 CA10497405 |
73 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782288223 CA10497406 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497407 rs782305514 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA414340430 rs1235751514 |
76 | I>M | No |
ClinGen TOPMed |
|
|
CA10497408 rs781932626 |
78 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556693629 CA414340444 |
79 | A>T | No |
ClinGen gnomAD |
|
|
CA414340469 rs1569539600 |
82 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 85 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781978117 CA10497411 |
87 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10497414 rs781911577 |
92 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1390669590 CA414340561 |
96 | L>P | No |
ClinGen TOPMed |
|
|
CA10497416 rs782734696 |
96 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556693638 CA414340580 |
99 | F>Y | No |
ClinGen gnomAD |
|
|
rs1556693641 CA414340608 |
103 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952099777 CA334741016 |
109 | R>W | No |
ClinGen gnomAD |
|
|
CA10497421 rs782551549 |
114 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556693755 CA414340720 |
118 | G>E | No |
ClinGen gnomAD |
|
|
CA10497436 rs782739692 |
121 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA414340744 rs1388599301 |
122 | V>I | No |
ClinGen TOPMed |
|
|
CA10497438 rs782131785 |
125 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414340785 rs1556693757 |
128 | V>E | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497440 rs781788758 |
133 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs984679978 CA334741082 |
135 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10497441 rs370750794 |
137 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414340857 rs1569539622 |
139 | S>G | No |
ClinGen Ensembl |
|
|
CA10497443 rs782600646 CA10497442 |
143 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782506887 CA10497444 |
149 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA414340939 rs1452549772 |
150 | E>A | No |
ClinGen TOPMed |
|
|
rs943348262 CA334741084 |
151 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782574852 CA10497448 |
157 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 157 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497449 rs782204139 |
158 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251680331 CA414340993 |
158 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203787651 CA414341080 |
170 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1203787651 CA414341082 |
170 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781836696 CA10497475 |
172 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1556693803 CA414341148 |
176 | S>N | No |
ClinGen gnomAD |
|
|
rs1556693803 CA414341147 |
176 | S>T | No |
ClinGen gnomAD |
|
|
rs781981611 CA10497476 |
181 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782803302 CA10497478 |
188 | M>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 190 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782055371 CA414341281 |
194 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112276160 CA334741120 |
194 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 197 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497481 rs782712218 |
198 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10497482 rs781833524 |
199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781833524 CA10497483 |
199 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs782765455 CA10497484 |
202 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782477666 CA10497487 |
203 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA10497486 rs782538909 |
203 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782188754 CA10497488 |
205 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA414341358 rs1556693811 |
206 | I>L | No |
ClinGen gnomAD |
|
|
CA10497489 rs181970187 |
207 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA334741121 rs782654382 |
208 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA334741122 rs143299320 |
211 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143299320 CA10497490 |
211 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA334741123 rs113983740 |
214 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 217 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556693817 CA414341446 |
218 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782086169 CA10497497 |
222 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414341500 rs1569539641 |
224 | Q>R | No |
ClinGen Ensembl |
|
|
CA10497499 rs781982840 |
225 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs782135619 CA10497500 |
228 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414341532 rs1556693905 |
229 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191532900 CA414341581 |
236 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414341642 rs1258506011 |
245 | L>Q | No |
ClinGen TOPMed |
|
|
rs1213100406 CA414341648 |
246 | A>V | No |
ClinGen TOPMed |
|
|
RCV000968441 CA10497501 rs73638816 |
249 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 252 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334741178 rs782595353 |
253 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1279490640 CA414341714 |
257 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10497502 rs781910177 |
258 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10497520 rs782093103 |
269 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10497523 rs782137310 |
281 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497524 rs371749747 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA334741243 rs374537731 |
284 | A>V | No |
ClinGen Ensembl |
|
|
rs1349539944 CA414341905 |
285 | T>I | No |
ClinGen TOPMed |
|
|
rs143526377 CA10497525 |
287 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414341921 rs1556694060 |
288 | G>S | No |
ClinGen gnomAD |
|
|
rs1556694061 CA414341925 |
288 | G>V | No |
ClinGen gnomAD |
|
|
rs1556694062 CA414341931 |
289 | A>V | No |
ClinGen gnomAD |
|
|
rs1556694063 CA414341974 |
296 | Y>H | No |
ClinGen gnomAD |
|
|
CA414341983 rs1556694064 |
297 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556694066 CA414342012 |
301 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782573145 CA10497535 |
314 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1326956565 CA414342119 |
314 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 315 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414342146 rs1556694396 |
318 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497537 rs199531433 |
323 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200351649 CA10497538 |
327 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs868924409 CA414342212 |
328 | G>S | No |
ClinGen Ensembl |
|
|
CA414342221 rs1556694400 |
329 | G>D | No |
ClinGen gnomAD |
|
|
rs1556694399 CA414342220 |
329 | G>R | No |
ClinGen gnomAD |
|
|
rs1556694401 CA414342231 |
331 | V>F | No |
ClinGen gnomAD |
|
|
rs782402642 CA10497540 |
331 | V>G | No |
ClinGen ExAC |
|
| TCGA novel | 334 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334741370 rs782581255 |
335 | S>P | No |
ClinGen 1000Genomes |
|
|
rs1422454164 CA414342270 |
337 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 341 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389755911 CA414342315 |
343 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414342314 rs1389755911 |
343 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782711505 CA10497544 |
347 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782103005 CA10497546 |
348 | I>T | No |
ClinGen ExAC |
|
|
CA414342355 rs1556694404 |
349 | V>L | No |
ClinGen gnomAD |
|
|
rs782182083 CA10497547 |
350 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10497548 rs781869581 |
350 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497549 rs782554939 |
355 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10497550 rs782680033 |
356 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781794342 CA10497551 |
357 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA414342419 rs1180881616 |
359 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782157622 CA10497553 |
361 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10497554 rs782241417 |
365 | I>V | No |
ClinGen ExAC |
|
| rs782577137 | 367 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556694412 CA414342474 |
367 | S>P | No |
ClinGen gnomAD |
|
|
CA10497556 rs782697734 |
368 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414342499 rs1225380542 |
371 | H>Y | No |
ClinGen TOPMed |
|
|
rs1556694415 CA414342526 |
374 | H>Q | No |
ClinGen gnomAD |
|
|
CA10497558 rs371745184 |
375 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782305047 CA10497559 |
376 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA10497561 CA10497560 rs781931614 |
377 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 381 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205888478 CA414342587 |
384 | V>L | No |
ClinGen TOPMed |
|
|
rs781800134 CA334741371 |
386 | S>P | No |
ClinGen Ensembl |
|
|
CA414342646 rs868918748 |
391 | A>T | No |
ClinGen Ensembl |
|
|
CA414342673 rs1556694499 |
395 | Y>D | No |
ClinGen gnomAD |
|
|
rs369615885 CA10497574 |
396 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414342685 rs1556694501 |
396 | P>L | No |
ClinGen gnomAD |
|
|
rs782688130 CA10497575 |
400 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414342721 rs1556694505 |
402 | L>H | No |
ClinGen gnomAD |
|
|
rs782461160 CA10497576 |
403 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556694511 CA414342738 |
405 | G>D | No |
ClinGen gnomAD |
|
|
rs1556694509 CA414342735 |
405 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10497577 rs181693418 |
408 | W>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10497578 rs181693418 |
408 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 411 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556694514 | 414 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385541613 CA414342870 |
424 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 426 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185066069 CA414342892 |
427 | S>L | No |
ClinGen TOPMed |
|
|
rs782021094 CA10497581 |
428 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs782804195 CA10497590 |
430 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162968296 CA414342926 |
431 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10497592 rs182839907 |
432 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10497593 rs782740686 |
433 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1556694603 CA414342942 |
433 | T>I | No |
ClinGen gnomAD |
|
|
rs1556694603 CA414342940 |
433 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 434 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414342960 rs1412836553 |
436 | Q>R | No |
ClinGen TOPMed |
|
|
rs1556694604 CA414342971 |
437 | D>E | No |
ClinGen gnomAD |
|
|
rs1161224929 CA414342969 |
437 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414342989 rs1471598061 |
440 | P>S | No |
ClinGen TOPMed |
|
|
rs868994849 CA414343014 |
443 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs146124970 CA10497595 |
446 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA414343033 rs1556694607 |
446 | M>V | No |
ClinGen gnomAD |
|
|
CA10497596 rs782642251 |
448 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA414343059 rs782539436 |
450 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10497597 rs782539436 |
450 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782561221 CA10497598 |
452 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244552814 CA414343122 |
459 | F>S | No |
ClinGen TOPMed |
|
|
rs376654431 CA10497599 |
464 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139069747 CA10497601 |
466 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1556694614 CA414343177 |
468 | Q>E | No |
ClinGen gnomAD |
|
|
CA414343210 rs1556694661 |
471 | I>V | No |
ClinGen gnomAD |
|
|
CA414343242 rs1556694662 |
475 | H>R | No |
ClinGen gnomAD |
|
|
CA414343254 rs782146132 |
477 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10497615 rs782146132 |
477 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA334741453 rs377221140 |
479 | H>L | No |
ClinGen Ensembl |
|
|
rs782606767 CA10497619 |
485 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782463590 CA10497618 |
485 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA414343355 rs1473227439 |
492 | L>P | No |
ClinGen TOPMed |
|
|
CA10497620 rs781843426 |
497 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA414343393 rs1556694671 |
498 | I>T | No |
ClinGen gnomAD |
|
|
rs1556694669 CA414343389 |
498 | I>V | No |
ClinGen gnomAD |
|
|
rs1556694672 CA414343417 |
501 | Y>C | No |
ClinGen gnomAD |
|
|
rs1556694718 CA414343444 |
504 | N>H | No |
ClinGen gnomAD |
|
|
CA10497636 rs376518536 |
505 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 506 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414343459 rs1403324217 |
506 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10497637 rs781883971 |
508 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA414343514 rs1556694726 |
513 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 517 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497638 rs782537520 |
520 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1556694731 CA414343633 |
529 | W>* | No |
ClinGen gnomAD |
|
|
CA334741464 rs782069864 |
531 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414343653 rs1556694733 |
532 | I>V | No |
ClinGen gnomAD |
|
|
rs781806347 CA10497640 |
533 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781806347 CA414343663 |
533 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10497644 rs782522454 |
538 | I>T | No |
ClinGen ExAC |
|
|
CA10497665 rs782570814 |
542 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs782198874 CA10497666 |
547 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1556694859 CA414343767 |
547 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 548 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 548 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414343777 rs1556694862 |
548 | F>L | No |
ClinGen gnomAD |
|
|
CA414343771 rs1271726655 |
548 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10497670 rs782404299 |
555 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414343838 rs868914918 |
557 | P>L | No |
ClinGen Ensembl |
|
|
CA414343847 rs782032055 |
559 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1556694865 CA414343850 |
559 | P>L | No |
ClinGen gnomAD |
|
|
rs782032055 CA10497671 |
559 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA414343860 rs1231797282 |
561 | W>R | No |
ClinGen TOPMed |
|
|
rs782323606 CA10497673 |
564 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280333619 CA414343907 |
567 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1556694871 CA414343921 |
569 | M>I | No |
ClinGen gnomAD |
|
|
rs781953185 CA414343916 |
569 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781953185 CA10497674 |
569 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556694872 CA414343926 |
570 | I>F | No |
ClinGen gnomAD |
|
|
rs1569539796 CA414343927 |
570 | I>N | No |
ClinGen Ensembl |
|
|
rs782093417 CA414343943 |
572 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs147488043 CA10497676 |
574 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1556694875 CA414343983 |
578 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497678 rs782152212 |
580 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781996614 CA10497677 |
580 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556694881 CA414344012 |
582 | I>T | No |
ClinGen gnomAD |
|
|
rs1556694879 CA414344010 |
582 | I>V | No |
ClinGen gnomAD |
|
|
CA414344032 rs1328340526 |
585 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 590 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781792160 CA10497680 |
591 | N>S | No |
ClinGen ExAC TOPMed |
|
|
CA10497681 rs782454568 |
592 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1396508603 CA414344082 |
592 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781971522 CA334741579 |
595 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA414344115 rs1556694955 |
595 | R>H | No |
ClinGen gnomAD |
|
|
CA10497693 rs782254925 |
599 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA414344157 rs782036917 |
601 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782036917 CA10497695 |
601 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556694958 CA414344179 |
605 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 611 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10497697 rs782327959 |
613 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1556694960 CA414344243 |
614 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10497698 rs781955858 |
614 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371324045 CA10497699 |
616 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1556694963 CA414344306 |
622 | V>A | No |
ClinGen gnomAD |
|
|
CA414344320 rs1157048143 |
624 | P>L | No |
ClinGen TOPMed |
|
|
rs1157048143 CA414344319 |
624 | P>R | No |
ClinGen TOPMed |
|
|
rs1419402387 CA414344323 |
625 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782781411 CA10497700 |
626 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 627 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781875319 CA10497701 |
628 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1556694966 CA414344354 |
629 | D>A | No |
ClinGen gnomAD |
|
|
CA10497702 rs782155457 |
629 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA334741580 rs201896167 |
630 | H>R | No |
ClinGen 1000Genomes |
|
|
CA414344380 rs782685928 |
633 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782685928 CA10497703 |
633 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782377354 CA334741581 |
633 | P>S | No |
ClinGen Ensembl |
|
|
CA10497704 rs200565178 |
638 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1556694971 CA414344415 |
639 | R>G | No |
ClinGen gnomAD |
|
|
CA10497705 rs782466358 |
641 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414344435 rs1556694975 |
642 | E>K | No |
ClinGen gnomAD |
|
|
CA10497706 rs374885310 |
643 | E>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9UN76
1 regional properties for Q9UN76
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Enkurin domain | 243 - 343 | IPR027012 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| (R)-carnitine transmembrane transporter activity | Enables the transfer of (R)-carnitine from one side of a membrane to the other. |
| 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. |
| aromatic amino acid transmembrane transporter activity | Enables the transfer of aromatic amino acids from one side of a membrane to the other. Aromatic amino acids have an aromatic ring. |
| beta-alanine transmembrane transporter activity | Enables the transfer of beta-alanine from one side of a membrane to the other. Beta-alanine is 3-aminopropanoic acid. |
| branched-chain 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: branched-chain amino acid(out) + cation(out) = branched-chain amino acid(in) + cation(in). |
| neutral, basic amino acid:sodium:chloride symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: neutral/basic amino acid(out) + Na+(out) + Cl-(out) = neutral/basic amino acid(in) + Na+(in) + Cl-(in). |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| (R)-carnitine transmembrane transport | The process in which (R)-carnitine is transported across a membrane. |
| 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 transmembrane transport | The process in which an amino acid is transported across a membrane. |
| 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. |
| beta-alanine transport | The directed movement of beta-alanine, 3-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 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. |
| 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. |
25 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 |
| Q9W4C5 | NAAT1 | Sodium-dependent nutrient amino acid transporter 1 | Drosophila melanogaster (Fruit fly) | PR |
| P30531 | SLC6A1 | Sodium- and chloride-dependent GABA transporter 1 | Homo sapiens (Human) | PR |
| Q9Y345 | SLC6A5 | Sodium- and chloride-dependent glycine transporter 2 | Homo sapiens (Human) | PR |
| Q9H1V8 | SLC6A17 | Sodium-dependent neutral amino acid transporter SLC6A17 | 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 |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | 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 |
| O35316 | Slc6a6 | Sodium- and chloride-dependent taurine transporter | Mus musculus (Mouse) | 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 |
| 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 |
| Q9JMA9 | Slc6a14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | 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 |
| MDKLKCPSFF | KCREKEKVSA | SSENFHVGEN | DENQDRGNWS | KKSDYLLSMI | GYAVGLGNVW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RFPYLTYSNG | GGAFLIPYAI | MLALAGLPLF | FLECSLGQFA | SLGPVSVWRI | LPLFQGVGIT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MVLISIFVTI | YYNVIIAYSL | YYMFASFQSE | LPWKNCSSWS | DKNCSRSPIV | THCNVSTVNK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GIQEIIQMNK | SWVDINNFTC | INGSEIYQPG | QLPSEQYWNK | VALQRSSGMN | ETGVIVWYLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LCLLLAWLIV | GAALFKGIKS | SGKVVYFTAL | FPYVVLLILL | VRGATLEGAS | KGISYYIGAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SNFTKLKEAE | VWKDAATQIF | YSLSVAWGGL | VALSSYNKFK | NNCFSDAIVV | CLTNCLTSVF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AGFAIFSILG | HMAHISGKEV | SQVVKSGFDL | AFIAYPEALA | QLPGGPFWSI | LFFFMLLTLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LDSQFASIET | ITTTIQDLFP | KVMKKMRVPI | TLGCCLVLFL | LGLVCVTQAG | IYWVHLIDHF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CAGWGILIAA | ILELVGIIWI | YGGNRFIEDT | EMMIGAKRWI | FWLWWRACWF | VITPILLIAI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FIWSLVQFHR | PNYGAIPYPD | WGVALGWCMI | VFCIIWIPIM | AIIKIIQAKG | NIFQRLISCC |
| 610 | 620 | 630 | 640 | ||
| RPASNWGPYL | EQHRGERYKD | MVDPKKEADH | EIPTVSGSRK | PE |