Q6PML9
PR
Gene name |
SLC30A9 (C4orf1, HUEL) |
Protein name |
Zinc transporter 9 |
Names |
ZnT-9, Human embryonic lung protein, HuEL, Solute carrier family 30 member 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10463 |
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
2 structures for Q6PML9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2ENK | NMR | - | A | 124-217 | PDB |
| AF-Q6PML9-F1 | Predicted | AlphaFoldDB |
384 variants for Q6PML9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1131692331 RCV000496089 |
350 | A>missing | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079365 | 350 | A>del | BILAPES; no effect on Wnt-signaling; no change in mitochondrial subcellular location; decrease in cytosolic free zinc levels [UniProt] | Yes | UniProt |
|
rs1577670869 CA356743287 |
2 | L>F | No |
ClinGen Ensembl |
|
|
rs1185749484 CA356743285 |
2 | L>S | No |
ClinGen gnomAD |
|
|
CA2902099 rs767957901 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902100 rs767957901 |
3 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356743291 rs1257507068 |
3 | P>T | No |
ClinGen gnomAD |
|
|
CA356743307 rs1365002837 |
4 | G>A | No |
ClinGen gnomAD |
|
|
CA356743302 rs1265825405 |
4 | G>S | No |
ClinGen TOPMed |
|
|
CA356743327 rs1385920478 |
6 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1470848595 CA356743331 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA2902104 rs753988839 |
7 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2902103 rs766861026 |
7 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573770304 CA2902105 |
8 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2902106 rs778912116 COSM1694290 |
9 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356743370 rs1352404936 |
10 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs577403817 CA95841559 |
11 | H>Q | No |
ClinGen TOPMed |
|
|
CA2902108 rs542568888 |
11 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA95841561 rs1022536047 |
12 | R>K | No |
ClinGen Ensembl |
|
|
CA2902109 rs781087670 |
13 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs745635130 CA2902110 |
13 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769918635 CA2902112 |
15 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs769918635 CA356743410 |
15 | W>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2902113 COSM40613 rs147121215 |
16 | S>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356743438 rs1176587416 |
20 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1376843605 CA356743447 |
21 | L>P | No |
ClinGen gnomAD |
|
|
rs1577670969 CA356743451 |
22 | R>C | No |
ClinGen Ensembl |
|
|
rs1464539824 CA356743452 |
22 | R>H | No |
ClinGen gnomAD |
|
|
CA356743471 rs1371027337 |
24 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356743466 rs1371027337 |
24 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs372123431 CA95841580 |
25 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2902118 rs372123431 |
25 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773687388 CA2902119 |
26 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1560530454 CA356743514 |
27 | A>E | No |
ClinGen Ensembl |
|
|
rs1560530452 CA356743504 |
27 | A>T | No |
ClinGen Ensembl |
|
|
rs1442661778 CA356743525 |
28 | A>V | No |
ClinGen TOPMed |
|
|
CA95841588 rs965670945 |
30 | C>R | No |
ClinGen Ensembl |
|
|
rs1340920789 CA356743547 |
30 | C>Y | No |
ClinGen TOPMed |
|
|
CA356743577 rs1231453782 |
32 | P>A | No |
ClinGen gnomAD |
|
|
rs766668556 CA2902122 |
33 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA356743617 rs1483647196 |
35 | R>C | No |
ClinGen gnomAD |
|
|
rs11541147 CA2902123 |
35 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11541147 CA356743621 |
35 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356743614 rs1483647196 |
35 | R>S | No |
ClinGen gnomAD |
|
|
rs765338091 CA2902127 |
36 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765338091 CA2902125 |
36 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765338091 CA2902126 |
36 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2902143 rs779672493 |
37 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356745301 rs1464715983 |
38 | W>C | No |
ClinGen TOPMed |
|
|
CA356745297 rs1349560958 |
38 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765718538 CA2902144 |
39 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs897021485 CA95845454 |
39 | Q>P | No |
ClinGen Ensembl |
|
|
CA356745346 rs1194677872 |
42 | V>L | No |
ClinGen TOPMed |
|
|
rs150654979 CA356745406 |
46 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2902148 rs751753033 |
48 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1261126734 CA356745436 |
49 | N>D | No |
ClinGen TOPMed |
|
|
CA356745448 rs1560534438 |
49 | N>K | No |
ClinGen Ensembl |
|
|
CA356745450 rs1047626 |
50 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2902149 VAR_052003 rs1047626 |
50 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2902150 rs149368642 |
52 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA95845483 rs957360246 |
54 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356745517 rs1319600325 |
55 | H>R | No |
ClinGen gnomAD |
|
|
rs367781595 CA95845484 |
57 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356745577 rs1577677972 |
58 | I>T | No |
ClinGen Ensembl |
|
|
CA356745574 rs1464274626 |
58 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356745594 rs1315453692 |
59 | G>A | No |
ClinGen TOPMed |
|
|
CA356745607 rs1239172014 |
60 | T>S | No |
ClinGen gnomAD |
|
|
CA356745641 rs1577677992 |
61 | L>Q | No |
ClinGen Ensembl |
|
|
CA95845497 rs970462840 |
62 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748038954 CA2902155 |
62 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161658642 CA356745713 |
64 | V>G | No |
ClinGen gnomAD |
|
|
CA2902157 rs774310888 |
69 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA95845525 rs774310888 |
69 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs151273121 CA2902159 |
71 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777066247 CA2902161 |
75 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902162 rs746379988 |
76 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1288615379 CA356746022 |
78 | S>L | No |
ClinGen gnomAD |
|
|
rs148515839 CA2902164 |
82 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148515839 CA356746098 |
82 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356746117 rs1209331586 |
83 | V>E | No |
ClinGen gnomAD |
|
|
rs911378047 CA95845596 |
83 | V>M | No |
ClinGen TOPMed |
|
|
CA2902165 rs115329927 |
84 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA95845604 rs942499678 |
84 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774664083 CA2902168 |
86 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA356746180 rs774664083 |
86 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA551141305 rs1413014655 |
86 | V>YIL* | No |
ClinGen gnomAD |
|
|
rs761932924 CA2902169 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754958896 CA2902173 |
88 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA2902174 rs765273495 |
90 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA356747934 rs1239677693 |
92 | A>V | No |
ClinGen TOPMed |
|
|
CA356747962 rs752706454 |
94 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902193 rs752706454 |
94 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902195 VAR_052004 rs2581423 |
97 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2902196 rs2581423 |
97 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA95855515 rs552013390 |
98 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1049758979 CA95855519 |
99 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356748016 rs1322122126 |
99 | L>V | No |
ClinGen TOPMed |
|
|
CA356748040 rs1388665785 |
101 | A>T | No |
ClinGen gnomAD |
|
|
rs1386135081 CA356748046 |
101 | A>V | No |
ClinGen TOPMed |
|
|
CA356748054 rs1438241549 |
102 | P>A | No |
ClinGen TOPMed |
|
|
rs1577687377 CA356748088 |
105 | Q>E | No |
ClinGen Ensembl |
|
|
CA356748104 rs1292316654 |
106 | E>* | No |
ClinGen gnomAD |
|
|
CA356748121 rs1452375409 |
107 | P>S | No |
ClinGen gnomAD |
|
|
CA2902198 rs780871647 |
111 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143375647 CA2902220 |
114 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755493271 CA2902222 |
119 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA95857266 rs932071958 |
121 | Y>C | No |
ClinGen gnomAD |
|
|
CA356748315 rs1185095243 |
122 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | G>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356748352 rs1158223648 COSM1055447 |
125 | Y>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2902225 rs772591530 |
126 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772591530 CA95857275 |
126 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 127 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866608879 CA95857294 |
135 | R>K | No |
ClinGen Ensembl |
|
|
rs747262718 CA2902227 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2902228 rs771126781 |
136 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1186557 CA356748442 rs1414282334 |
137 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1352610756 CA356748466 |
139 | E>K | No |
ClinGen gnomAD |
|
|
rs58477045 CA95857307 |
141 | C>S | No |
ClinGen Ensembl |
|
|
rs1445339663 CA356748508 |
145 | S>G | No |
ClinGen TOPMed |
|
|
rs1232738129 CA356750014 |
146 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs375364466 CA2902248 |
150 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1342271819 CA356750137 |
151 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203155086 CA356750140 |
151 | R>Q | No |
ClinGen gnomAD |
|
|
rs539632033 CA2902249 |
155 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778280343 CA2902250 |
157 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747392390 CA2902251 |
158 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA356750270 rs1577690643 |
159 | H>D | No |
ClinGen Ensembl |
|
|
CA356750319 rs1190434803 |
161 | D>V | No |
ClinGen gnomAD |
|
|
rs757480898 CA2902252 |
162 | T>A | No |
ClinGen ExAC |
|
|
CA2902253 rs781310820 |
163 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1430510359 CA356750386 |
164 | S>C | No |
ClinGen gnomAD |
|
|
CA356750476 rs1577690657 |
166 | T>A | No |
ClinGen Ensembl |
|
|
rs780740348 CA2902254 |
167 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA356750565 rs1294556091 |
170 | R>G | No |
ClinGen gnomAD |
|
|
rs774216459 CA2902257 |
170 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2902258 rs748080476 |
171 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA356750621 rs1560541482 |
172 | D>E | No |
ClinGen Ensembl |
|
|
CA95858875 rs149913785 |
175 | A>T | No |
ClinGen ESP gnomAD |
|
| rs770648488 | 176 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389903986 CA356750909 |
177 | S>Y | No |
ClinGen TOPMed |
|
|
rs1409165253 CA356750934 |
178 | L>S | No |
ClinGen gnomAD |
|
|
CA2902283 rs776283901 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA356751009 rs1458610461 |
180 | V>F | No |
ClinGen TOPMed |
|
|
rs1412346108 CA356751048 |
181 | W>* | No |
ClinGen TOPMed |
|
|
CA356751053 rs1577691047 |
182 | G>R | No |
ClinGen Ensembl |
|
|
CA2902285 rs769631387 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2902286 rs775119057 |
189 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2902287 rs762594381 |
190 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1411261015 CA356751310 |
191 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764622551 CA2902288 |
194 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2902289 COSM188219 rs144935504 |
194 | R>H | oesophagus large_intestine endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs990334692 CA95859065 |
195 | K>E | No |
ClinGen TOPMed |
|
|
CA356751609 rs1312674408 |
199 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767777877 CA2902291 |
199 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750851753 CA2902292 |
203 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2902309 rs142007432 |
204 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM402434 CA2902308 rs142007432 |
204 | R>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA95844527 rs1038959317 |
204 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2902310 rs547294532 |
205 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA95844531 rs547294532 |
205 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1394953534 CA356742981 |
211 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755022909 CA95844558 |
212 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778859416 CA2902315 |
213 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752882508 CA2902316 |
213 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356743007 rs1230750464 |
214 | E>K | No |
ClinGen gnomAD |
|
|
rs1270822875 CA356743031 |
215 | Y>C | No |
ClinGen gnomAD |
|
|
CA2902318 rs781319794 |
217 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs774180416 CA95844591 |
219 | L>W | No |
ClinGen Ensembl |
|
|
CA2902319 rs745621391 |
221 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902336 rs767513447 |
225 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474661847 CA356743835 |
225 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA95847247 rs201359194 |
228 | T>I | No |
ClinGen TOPMed |
|
|
CA95847239 rs201359194 |
228 | T>R | No |
ClinGen TOPMed |
|
|
CA356743860 rs1413896550 |
229 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 230 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750399680 CA2902338 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs973620224 CA95847275 |
235 | G>R | No |
ClinGen gnomAD |
|
|
CA2902339 rs776659745 |
236 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902341 rs749164208 |
238 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291599194 CA356743924 |
239 | V>G | No |
ClinGen gnomAD |
|
|
CA2902342 rs754563129 |
240 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1260681802 CA356743940 |
242 | V>L | No |
ClinGen gnomAD |
|
|
rs199595007 CA95847306 |
244 | I>M | No |
ClinGen 1000Genomes |
|
|
rs747568245 CA2902344 |
246 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs778379099 CA2902363 |
247 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778379099 CA2902362 |
247 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs758117426 CA2902364 |
251 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA356745222 rs758117426 |
251 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2902365 rs777254191 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA356745235 rs1273508174 |
253 | F>V | No |
ClinGen TOPMed |
|
|
CA356745266 rs1194202835 |
257 | A>S | No |
ClinGen gnomAD |
|
|
rs746575958 CA2902366 |
260 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781738895 CA2902368 |
262 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356745399 rs1394786610 |
266 | M>I | No |
ClinGen gnomAD |
|
|
rs138544445 CA2902370 |
266 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356745445 rs1577708253 |
270 | A>T | No |
ClinGen Ensembl |
|
|
CA2902371 rs753026193 |
271 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356745481 rs763261920 |
272 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2902373 rs763261920 |
272 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA356745499 rs1297083833 |
273 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356745495 rs1314461425 |
273 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs538043925 CA95855701 |
275 | S>P | No |
ClinGen 1000Genomes |
|
|
CA2902375 rs557772746 |
276 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 277 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762022876 CA2902376 |
280 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2902396 rs776363176 |
281 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759507930 CA2902397 |
282 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356746979 rs1240699104 |
284 | A>T | No |
ClinGen gnomAD |
|
|
rs1222039958 CA356746993 |
286 | G>D | No |
ClinGen TOPMed |
|
|
CA2902398 rs765138443 |
286 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1429469692 CA356746998 |
287 | I>V | No |
ClinGen gnomAD |
|
|
CA2902399 rs752461971 |
288 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs371887179 CA95862967 |
291 | V>F | No |
ClinGen ESP |
|
|
rs1577714747 CA356747030 |
292 | Q>* | No |
ClinGen Ensembl |
|
|
CA356747061 rs1415010421 |
296 | P>L | No |
ClinGen gnomAD |
|
|
CA95862987 rs1035688104 |
297 | S>P | No |
ClinGen Ensembl |
|
|
rs773093581 CA2902401 |
299 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2902427 rs754406282 |
304 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2902428 rs755323056 |
304 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375750615 CA2902429 COSM447868 |
306 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2902430 rs142610119 |
306 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA95864914 rs903490813 |
307 | Y>C | No |
ClinGen TOPMed |
|
|
CA2902431 rs758618690 |
309 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs777892269 CA2902432 COSM1722698 |
310 | S>L | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1444250108 CA356747739 |
312 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2902437 rs749220292 |
315 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1472597038 CA356747802 |
317 | I>V | No |
ClinGen TOPMed |
|
|
CA2902438 rs369354141 |
320 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356747876 rs1216550916 |
321 | G>V | No |
ClinGen gnomAD |
|
|
CA2902439 rs774108439 |
322 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356747894 rs1483412248 |
325 | S>P | No |
ClinGen TOPMed |
|
|
CA356747906 rs1326057142 |
326 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs181235146 CA95864970 |
331 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356748045 rs1225778550 |
337 | Q>R | No |
ClinGen gnomAD |
|
|
rs900257938 CA95864979 |
338 | P>Q | No |
ClinGen Ensembl |
|
|
CA2902440 rs761551854 |
338 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356748072 rs1210923042 |
339 | I>M | No |
ClinGen Ensembl |
|
|
CA2902442 rs772760872 |
339 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767158132 CA2902441 |
339 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356748075 rs1228039330 |
340 | E>K | No |
ClinGen TOPMed |
|
|
rs760169933 CA2902443 |
342 | L>F | No |
ClinGen ExAC |
|
|
COSM3767874 rs997009442 CA95865010 |
344 | W>C | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2902459 rs148360466 |
349 | L>V | No |
ClinGen ESP ExAC |
|
|
rs772849863 CA2902460 |
351 | G>E | No |
ClinGen ExAC gnomAD |
|
|
VAR_052005 CA2902462 rs1801962 |
353 | L>S | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs776256493 CA2902463 |
354 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765794733 CA2902465 |
356 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753162033 CA2902466 |
357 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA95867119 rs972481521 |
359 | T>P | No |
ClinGen gnomAD |
|
|
rs777414458 CA2902480 |
360 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746867948 CA2902482 |
361 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902484 rs367803288 |
362 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356749694 rs367803288 |
362 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371371376 CA356749733 |
364 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs371371376 CA95867149 |
364 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA356749806 COSM1540421 rs1273207910 |
368 | R>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA356749808 rs1280651892 |
368 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1280651892 CA356749811 |
368 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs775132482 CA2902487 |
370 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA356749896 rs1438120785 |
372 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2902488 rs141510850 |
372 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2902489 rs764711698 |
373 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1444771875 CA356749948 |
374 | K>E | No |
ClinGen TOPMed |
|
|
CA2902490 rs774550271 |
374 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 375 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2902491 rs762193591 |
377 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA356750043 rs1396802613 |
377 | S>T | No |
ClinGen TOPMed |
|
|
rs201494911 CA95867211 |
381 | Y>C | No |
ClinGen Ensembl |
|
|
CA2902492 rs200030265 |
381 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405355432 CA356750200 |
382 | V>I | No |
ClinGen TOPMed |
|
|
CA356750339 rs1309564103 |
383 | M>V | No |
ClinGen TOPMed |
|
|
CA356750429 rs1577718858 |
386 | R>C | No |
ClinGen Ensembl |
|
|
CA2902508 rs748871230 |
386 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356750548 rs1384525190 |
390 | T>R | No |
ClinGen gnomAD |
|
|
CA356750557 rs1297324298 |
391 | N>D | No |
ClinGen gnomAD |
|
|
rs1307693744 CA356750566 |
391 | N>I | No |
ClinGen gnomAD |
|
|
CA2902510 rs774944123 |
394 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868588778 CA95867500 |
397 | D>G | No |
ClinGen Ensembl |
|
|
rs1214255047 CA356750881 |
402 | L>F | No |
ClinGen gnomAD |
|
|
rs1264747665 CA356750893 |
403 | G>R | No |
ClinGen gnomAD |
|
|
rs767872937 CA2902512 |
405 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767872937 CA356750943 |
405 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264188967 CA356750963 |
406 | I>T | No |
ClinGen gnomAD |
|
|
CA356750957 rs1189521625 |
406 | I>V | No |
ClinGen gnomAD |
|
|
CA356750979 rs1478264633 |
407 | A>P | No |
ClinGen gnomAD |
|
|
rs1193482264 CA356751010 |
408 | A>V | No |
ClinGen gnomAD |
|
|
CA356751036 rs1162485334 |
409 | T>I | No |
ClinGen TOPMed |
|
|
CA95867512 rs150864299 |
412 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1408377459 CA356751139 |
412 | G>R | No |
ClinGen TOPMed |
|
|
rs773628644 CA2902514 |
416 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902520 rs763882792 |
419 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356751989 rs1161826337 |
423 | D>V | No |
ClinGen gnomAD |
|
|
CA356752003 rs1346970991 |
424 | S>C | No |
ClinGen TOPMed |
|
|
CA2902523 rs781121447 |
424 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 425 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765580184 CA95869328 |
425 | L>Q | No |
ClinGen Ensembl |
|
|
CA356752021 rs1160559540 |
425 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 426 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745707499 CA2902524 |
429 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745707499 CA356752081 |
429 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 430 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356752119 rs1290373466 |
432 | T>A | No |
ClinGen gnomAD |
|
|
rs779788857 CA2902526 |
434 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376973066 CA356752164 |
435 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs959434206 CA95869338 |
436 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356752172 rs1307549674 |
436 | M>V | No |
ClinGen gnomAD |
|
|
CA356752208 rs748696224 |
438 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs748696224 CA2902527 |
438 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs768223884 CA2902528 |
439 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs142771930 CA2902529 |
441 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1211345468 CA356752276 |
442 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA356752290 rs1560559250 |
443 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2902530 rs146045214 |
444 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356752376 rs1482446659 |
448 | A>G | No |
ClinGen gnomAD |
|
|
CA95869348 rs772621304 |
452 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772621304 CA2902531 |
452 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356752426 COSM1429741 rs1156285599 |
452 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs751218126 CA95869352 |
453 | S>A | No |
ClinGen Ensembl |
|
|
rs1021918930 CA95869355 |
453 | S>F | No |
ClinGen TOPMed |
|
|
rs773540500 CA2902532 |
454 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA356752447 rs1414681304 |
454 | I>V | No |
ClinGen gnomAD |
|
|
rs139981842 CA2902534 |
455 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356752483 rs1264881083 |
456 | P>Q | No |
ClinGen TOPMed |
|
|
rs776928382 CA2902536 |
458 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759471504 CA2902537 |
459 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765359327 CA2902538 |
460 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs549295310 CA2902540 |
461 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2902539 rs752883251 |
461 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767605085 CA2902541 |
462 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA356753410 rs1364245278 |
468 | N>S | No |
ClinGen TOPMed |
|
|
CA2902543 rs143447301 |
469 | D>N | No |
ClinGen ESP ExAC |
|
|
rs977866047 CA95869425 |
470 | P>A | No |
ClinGen TOPMed |
|
|
rs779512800 CA2902544 |
471 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1207033542 CA356753454 |
472 | V>I | No |
ClinGen gnomAD |
|
|
CA2902545 rs144592772 |
473 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1275545730 CA356754794 |
476 | H>R | No |
ClinGen gnomAD |
|
|
CA95871614 rs909489751 |
478 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2902562 rs753630320 |
480 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752161372 CA2902565 |
486 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200715196 CA2902564 |
486 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463819885 CA356755021 |
488 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2902567 rs778188455 |
494 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1350042877 CA356755119 |
495 | D>G | No |
ClinGen TOPMed |
|
|
CA356755131 rs1560561303 |
497 | D>N | No |
ClinGen Ensembl |
|
|
rs775152975 CA95871649 |
499 | R>* | No |
ClinGen TOPMed |
|
|
rs747548443 CA2902568 |
501 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs771400463 CA2902569 |
502 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2902570 rs781602312 |
503 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356755520 rs1284369135 |
517 | E>D | No |
ClinGen gnomAD |
|
|
CA356755580 rs1487098341 |
523 | T>I | No |
ClinGen gnomAD |
|
|
CA2902589 rs756563158 |
524 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA95873325 rs921504620 |
528 | E>Q | No |
ClinGen Ensembl |
|
|
CA356755746 rs1159308070 |
531 | M>V | No |
ClinGen gnomAD |
|
|
CA2902594 rs537929806 |
532 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2902595 rs537929806 |
532 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418101873 CA356755828 |
534 | H>Y | No |
ClinGen gnomAD |
|
|
rs922646529 CA95873339 |
535 | G>E | No |
ClinGen TOPMed |
|
|
CA95873351 rs932718307 |
537 | N>S | No |
ClinGen TOPMed |
|
|
CA2902597 rs759267618 |
538 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1395765025 CA356755979 |
539 | I>T | No |
ClinGen gnomAD |
|
|
CA95873364 rs372401693 |
539 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs985599986 CA95873381 |
541 | T>A | No |
ClinGen TOPMed |
|
|
rs1356839263 CA356756053 |
544 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 552 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766929801 CA2902625 |
556 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750008955 CA2902626 |
558 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA95878295 rs1006969364 COSM277323 |
561 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761237924 CA2902627 |
561 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2902630 rs755415031 |
564 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 566 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q6PML9
[MIM: 617595]: Birk-Landau-Perez syndrome (BILAPES)
An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. {ECO:0000269|PubMed:28334855}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy. {ECO:0000269|PubMed:28334855}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q6PML9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thioredoxin domain | 27 - 152 | IPR013766-1 |
| domain | Thioredoxin domain | 367 - 496 | IPR013766-2 |
| conserved_site | Thioredoxin, conserved site | 63 - 81 | IPR017937-1 |
| conserved_site | Thioredoxin, conserved site | 410 - 428 | IPR017937-2 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| 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. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cation transmembrane transporter activity | Enables the transfer of cation from one side of a membrane to the other. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular zinc ion homeostasis | Any process involved in the maintenance of an internal steady state of zinc ions at the level of a cell. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| zinc ion transport | The directed movement of zinc (Zn II) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8H1G3 | MTPC4 | Metal tolerance protein C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPGLAAAAA | HRCSWSSLCR | LRLRCRAAAC | NPSDRQEWQN | LVTFGSFSNM | VPCSHPYIGT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSQVKLYSTN | VQKEGQGSQT | LRVEKVPSFE | TAEGIGTELK | APLKQEPLQV | RVKAVLKKRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YGSKYTQNNF | ITGVRAINEF | CLKSSDLEQL | RKIRRRSPHE | DTESFTVYLR | SDVEAKSLEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WGSPEALARE | KKLRKEAEIE | YRERLFRNQK | ILREYRDFLG | NTKPRSRTAS | VFFKGPGKVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MVAICINGLN | CFFKFLAWIY | TGSASMFSEA | IHSLSDTCNQ | GLLALGISKS | VQTPDPSHPY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GFSNMRYISS | LISGVGIFMM | GAGLSWYHGV | MGLLHPQPIE | SLLWAYCILA | GSLVSEGATL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVAVNELRRN | ARAKGMSFYK | YVMESRDPST | NVILLEDTAA | VLGVIIAATC | MGLTSITGNP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LYDSLGSLGV | GTLLGMVSAF | LIYTNTEALL | GRSIQPEQVQ | RLTELLENDP | SVRAIHDVKA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TDLGLGKVRF | KAEVDFDGRV | VTRSYLEKQD | FDQMLQEIQE | VKTPEELETF | MLKHGENIID |
| 550 | 560 | ||||
| TLGAEVDRLE | KELKKRNPEV | RHVDLEIL |