Q9UNP9
Gene name |
PPIE (CYP33) |
Protein name |
Peptidyl-prolyl cis-trans isomerase E |
Names |
PPIase E, Cyclophilin E, Cyclophilin-33, Rotamase E |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10450 |
EC number |
5.2.1.8: Cis-trans isomerases |
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
29 structures for Q9UNP9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZMF | X-ray | 188 A | A | 137-301 | PDB |
| 2CQB | NMR | - | A | 1-89 | PDB |
| 2KU7 | NMR | - | A | 2-82 | PDB |
| 2KYX | NMR | - | A | 3-83 | PDB |
| 2R99 | X-ray | 161 A | A | 131-301 | PDB |
| 3LPY | X-ray | 200 A | A/B | 5-82 | PDB |
| 3MDF | X-ray | 185 A | A/B | 1-83 | PDB |
| 3UCH | X-ray | 250 A | A | 129-301 | PDB |
| 5MQF | EM | 590 A | o | 1-301 | PDB |
| 5YZG | EM | 410 A | 1 | 1-301 | PDB |
| 5Z56 | EM | 510 A | y | 1-301 | PDB |
| 5Z57 | EM | 650 A | y | 1-301 | PDB |
| 6FF7 | EM | 450 A | o | 1-301 | PDB |
| 6ICZ | EM | 300 A | y | 1-301 | PDB |
| 6ID0 | EM | 290 A | y | 1-301 | PDB |
| 6ID1 | EM | 286 A | y | 1-301 | PDB |
| 7A5P | EM | 500 A | o | 1-301 | PDB |
| 7ABI | EM | 800 A | o | 1-301 | PDB |
| 7W59 | EM | 360 A | y | 1-301 | PDB |
| 7W5A | EM | 360 A | y | 1-301 | PDB |
| 7W5B | EM | 430 A | y | 1-301 | PDB |
| 7ZEV | NMR | - | A | 1-114 | PDB |
| 7ZEW | NMR | - | A | 1-114 | PDB |
| 7ZEX | NMR | - | A | 1-90 | PDB |
| 7ZEY | NMR | - | A | 1-114 | PDB |
| 7ZEZ | NMR | - | A | 1-90 | PDB |
| 8C6J | EM | 280 A | CE | 1-301 | PDB |
| 8CH6 | EM | 590 A | w | 1-301 | PDB |
| AF-Q9UNP9-F1 | Predicted | AlphaFoldDB |
210 variants for Q9UNP9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749129226 CA786818 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA786821 rs745833279 |
3 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771607640 CA786822 |
3 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339809624 rs745833279 |
3 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA786823 rs774920247 |
4 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773524238 CA786826 |
5 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 6 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766699936 CA786828 |
6 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339809661 rs1187358320 |
6 | R>L | No |
ClinGen TOPMed |
|
|
rs766699936 CA339809657 |
6 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990535740 CA20961867 |
7 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767579392 CA786831 |
10 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1270829456 CA339810670 |
16 | E>K | No |
ClinGen TOPMed |
|
|
rs1200873256 CA339810724 |
18 | D>Y | No |
ClinGen gnomAD |
|
|
CA339810779 rs1432577835 |
20 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339810846 rs1282441068 |
23 | H>N | No |
ClinGen TOPMed |
|
|
rs758313497 CA786857 |
25 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339810954 rs1430128365 |
28 | P>L | No |
ClinGen gnomAD |
|
|
rs1557440487 CA339811001 |
31 | D>G | No |
ClinGen Ensembl |
|
|
CA339811025 rs1223265060 |
32 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA786860 rs754451607 |
35 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368889682 CA339811121 |
38 | P>L | No |
ClinGen gnomAD |
|
|
rs780742850 CA786861 |
40 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1284080272 CA339811156 |
41 | Y>F | No |
ClinGen gnomAD |
|
|
rs1283154375 CA339811172 |
42 | E>G | No |
ClinGen TOPMed |
|
|
rs1569626277 CA339811170 |
42 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339811185 rs1222279229 |
43 | T>I | No |
ClinGen TOPMed |
|
|
CA786884 rs749011841 |
44 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM464600 CA786885 rs186973395 |
45 | K>E | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1008215581 CA339811417 |
46 | H>P | No |
ClinGen gnomAD |
|
|
CA20962859 rs1008215581 |
46 | H>R | No |
ClinGen gnomAD |
|
|
rs1290102187 CA339811414 |
46 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA786886 rs780622775 |
50 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339811487 rs780622775 |
50 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339811513 rs1243783735 |
52 | V>I | No |
ClinGen gnomAD |
|
|
CA20962869 COSM241224 rs961502910 |
53 | E>Q | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 55 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA786887 rs747462105 |
56 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs986459693 CA20962957 |
59 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 61 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339811776 rs1285815201 |
61 | A>V | No |
ClinGen gnomAD |
|
|
rs759431590 CA786901 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138799550 CA339811823 |
64 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208074488 CA339811815 |
64 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339811824 rs1462496610 |
65 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339811841 rs1236674644 |
66 | N>S | No |
ClinGen gnomAD |
|
|
rs113902258 CA20962973 |
67 | M>T | No |
ClinGen Ensembl |
|
|
CA339812213 rs1355657463 |
73 | F>S | No |
ClinGen TOPMed |
|
|
rs150373599 CA786919 |
75 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767343380 CA786921 |
77 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA786922 rs775286547 |
78 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763457871 CA786924 |
80 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 85 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339812470 rs1332295014 |
85 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756929050 CA786926 |
90 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339813268 rs1450886446 |
96 | W>* | No |
ClinGen gnomAD |
|
|
CA339813267 rs1209256500 |
96 | W>L | No |
ClinGen gnomAD |
|
|
CA339813277 rs1265351706 |
98 | D>N | No |
ClinGen gnomAD |
|
|
rs924710963 CA20963542 |
104 | K>E | No |
ClinGen Ensembl |
|
|
rs775953205 CA786945 |
104 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA339813327 rs1441537948 |
104 | K>T | No |
ClinGen TOPMed |
|
|
rs1352892036 CA339813341 |
106 | S>A | No |
ClinGen TOPMed |
|
|
CA339813343 rs1569648256 |
106 | S>C | No |
ClinGen Ensembl |
|
|
CA339813350 rs1189751653 |
107 | G>V | No |
ClinGen gnomAD |
|
|
CA786946 rs761382927 |
108 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3689682 CA786947 rs764879686 COSM267239 |
109 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750092753 CA786948 |
111 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs762747932 CA786949 |
115 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1457971249 CA339813408 |
116 | E>Q | No |
ClinGen gnomAD |
|
|
CA20963595 rs1054552682 |
117 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376529925 CA786950 |
118 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163179726 CA339813423 |
118 | G>R | No |
ClinGen TOPMed |
|
|
CA786951 rs753107197 |
119 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458804483 CA339813440 |
121 | P>S | No |
ClinGen gnomAD |
|
|
rs918702022 CA20963603 |
122 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs918702022 CA339813450 |
122 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA786952 rs756533263 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 124 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA786954 rs200484350 |
125 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339813477 rs1438277009 |
127 | Q>E | No |
ClinGen TOPMed |
|
|
CA786955 rs757328126 |
128 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA786984 rs748811881 |
129 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA339813526 rs1378019547 |
129 | G>R | No |
ClinGen gnomAD |
|
|
CA339813533 rs748811881 |
129 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA20964243 rs1017974068 |
130 | E>K | No |
ClinGen TOPMed |
|
|
rs1301327142 CA339813559 |
131 | P>L | No |
ClinGen gnomAD |
|
|
rs1016475431 CA20964254 |
132 | I>M | No |
ClinGen Ensembl |
|
|
rs770390684 CA786985 |
132 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA786986 rs774052244 |
133 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA339813589 rs1475007167 |
134 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20964262 rs748891149 |
137 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA786987 rs149451835 |
137 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764384693 CA786988 |
138 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339813697 rs750975872 |
141 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750975872 CA786992 |
141 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758471272 CA786993 |
144 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320514727 CA339813775 |
146 | I>V | No |
ClinGen TOPMed |
|
|
rs540102410 CA20964283 |
147 | K>N | No |
ClinGen 1000Genomes |
|
|
CA339813841 rs1205398083 |
148 | I>M | No |
ClinGen gnomAD |
|
|
rs766435677 CA786994 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339813895 rs1218789008 |
151 | K>E | No |
ClinGen TOPMed |
|
|
CA339813909 rs1344925834 |
151 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA786996 rs139872652 |
152 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA786998 rs747985266 |
154 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA786999 rs756063594 |
155 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777825153 CA787000 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339813973 rs1463864979 |
156 | I>V | No |
ClinGen TOPMed |
|
|
CA339814014 rs1352872542 |
157 | Q>E | No |
ClinGen gnomAD |
|
|
CA339814078 rs1366964937 |
160 | L>P | No |
ClinGen TOPMed |
|
|
CA20964335 rs759101916 |
161 | R>C | No |
ClinGen TOPMed |
|
|
COSM3689684 rs776933148 CA787006 COSM3689683 |
161 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA787007 rs776933148 |
161 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs573338483 CA787008 |
163 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339814132 rs1557447168 |
164 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA20964343 rs981534733 |
165 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773763047 CA787009 |
166 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339814176 rs1305268925 |
166 | P>R | No |
ClinGen gnomAD |
|
|
CA787010 rs763427310 |
167 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354299333 CA339815918 |
170 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757170281 CA787038 COSM909342 COSM1584509 |
173 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA787039 rs778694289 |
173 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA787040 rs570412863 |
174 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs757897036 CA787041 |
175 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1443888316 CA339816054 |
177 | T>A | No |
ClinGen gnomAD |
|
|
rs1211113379 CA339816076 |
178 | H>R | No |
ClinGen gnomAD |
|
|
rs1392803623 CA339816074 |
178 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs768302199 CA787044 |
180 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA787045 rs778155074 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1412775757 CA339816182 |
184 | F>L | No |
ClinGen gnomAD |
|
|
CA787046 rs375485659 |
186 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA787047 rs771374286 |
191 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20967873 rs925108996 |
191 | R>H | No |
ClinGen Ensembl |
|
|
CA787048 rs774718170 |
192 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA339816324 rs774718170 |
192 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs938075282 CA20967876 |
194 | P>S | No |
ClinGen TOPMed |
|
|
rs1159248826 CA339816413 |
197 | M>V | No |
ClinGen TOPMed |
|
|
rs775720566 CA787051 |
201 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760940629 CA787052 |
206 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA787054 rs764245200 |
207 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764245200 CA787053 |
207 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339816605 rs1238279664 |
208 | G>R | No |
ClinGen gnomAD |
|
|
rs761484384 CA787055 |
209 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339816626 rs761484384 |
209 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs779462215 CA20967888 |
214 | I>V | No |
ClinGen Ensembl |
|
|
rs750345757 CA787057 |
215 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs368373757 CA339816711 |
215 | Y>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA787056 rs368373757 |
215 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1279330785 CA339816720 |
216 | G>E | No |
ClinGen gnomAD |
|
|
CA339816732 rs1346058533 |
217 | K>N | No |
ClinGen gnomAD |
|
|
CA339816737 rs1207529608 |
218 | K>T | No |
ClinGen gnomAD |
|
|
rs758344472 CA339816749 |
219 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA339816756 rs751095684 |
220 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs765808679 CA787059 COSM909343 COSM1584507 |
220 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1326403489 CA339816810 |
227 | K>Q | No |
ClinGen TOPMed |
|
|
rs780682561 CA787062 |
228 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA787063 rs747872958 |
229 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747872958 CA339816850 |
229 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440973128 CA339817318 |
239 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA787084 rs758884041 |
241 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA20969100 rs571843486 |
242 | N>S | No |
ClinGen Ensembl |
|
|
CA339817377 rs1557456895 |
244 | N>S | No |
ClinGen Ensembl |
|
|
rs780677615 CA339817414 |
246 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866582135 CA20969106 |
246 | S>F | No |
ClinGen Ensembl |
|
|
rs780677615 CA787085 |
246 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213657125 CA339817439 |
247 | Q>H | No |
ClinGen gnomAD |
|
|
CA787086 rs747620205 |
247 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466531290 CA339817487 |
249 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA20969112 rs751635665 |
250 | L>V | No |
ClinGen Ensembl |
|
|
CA339817556 rs1557457059 |
252 | C>S | No |
ClinGen Ensembl |
|
|
rs1425380294 CA339817562 |
252 | C>Y | No |
ClinGen TOPMed |
|
|
rs768602497 CA787089 |
253 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA787090 rs781344514 |
254 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339817653 rs1176864234 |
257 | W>* | No |
ClinGen TOPMed |
|
|
CA339817647 rs1190538038 |
257 | W>R | No |
ClinGen gnomAD |
|
|
rs748248658 CA787091 |
259 | D>G | No |
ClinGen ExAC |
|
|
rs1569708461 CA339817768 |
264 | V>G | No |
ClinGen Ensembl |
|
|
rs1472811462 CA339817791 |
266 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339817813 rs1569708601 |
267 | E>* | No |
ClinGen Ensembl |
|
|
rs72665281 CA787094 |
270 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539934916 CA787095 |
272 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA787096 rs774265713 |
273 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA787098 rs369622308 |
274 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766872571 CA787099 |
275 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs373395278 CA787101 |
276 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142456461 CA787100 |
276 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868573979 CA20969306 |
280 | A>V | No |
ClinGen Ensembl |
|
|
rs1413937806 CA339818238 |
283 | S>C | No |
ClinGen TOPMed |
|
|
CA339818261 rs1434380171 |
283 | S>R | No |
ClinGen gnomAD |
|
|
rs1370608227 CA339818282 |
284 | K>R | No |
ClinGen gnomAD |
|
|
rs753108497 CA787128 |
286 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1298110721 CA339818354 |
288 | P>S | No |
ClinGen gnomAD |
|
|
rs1371893524 CA339818391 |
289 | K>T | No |
ClinGen gnomAD |
|
|
CA787130 rs753184327 |
290 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233158443 CA339818541 |
294 | I>V | No |
ClinGen gnomAD |
|
|
rs778032411 CA20969347 |
295 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA339818565 rs749448341 |
296 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA787133 rs749448341 |
296 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA787134 rs749448341 |
296 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA787135 rs778524374 |
298 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs549682152 CA20969361 |
301 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA787137 rs549682152 |
301 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q9UNP9
4 regional properties for Q9UNP9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 6 - 84 | IPR000504 |
| domain | Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain | 143 - 299 | IPR002130 |
| conserved_site | Cyclophilin-type peptidyl-prolyl cis-trans isomerase, conserved site | 184 - 201 | IPR020892 |
| domain | Peptidyl-prolyl cis-trans isomerase E, RNA recognition motif | 8 - 82 | IPR034168 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.2.1.8 | Cis-trans isomerases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
| U2-type catalytic step 2 spliceosome | A spliceosomal complex that contains the U2, U5 and U6 snRNPs bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the U2, U5 and U6 snRNPs. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cyclosporin A binding | Binding to cyclosporin A, a cyclic undecapeptide that contains several N-methylated and unusual amino acids. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| peptidyl-prolyl cis-trans isomerase activity | Catalysis of the reaction: peptidyl-proline (omega=180) = peptidyl-proline (omega=0). |
| poly(A) binding | Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| positive regulation of viral genome replication | Any process that activates or increases the frequency, rate or extent of viral genome replication. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein peptidyl-prolyl isomerization | The modification of a protein by cis-trans isomerization of a proline residue. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATTKRVLYV | GGLAEEVDDK | VLHAAFIPFG | DITDIQIPLD | YETEKHRGFA | FVEFELAEDA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAAIDNMNES | ELFGRTIRVN | LAKPMRIKEG | SSRPVWSDDD | WLKKFSGKTL | EENKEEEGSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPKAETQEGE | PIAKKARSNP | QVYMDIKIGN | KPAGRIQMLL | RSDVVPMTAE | NFRCLCTHEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFGFKGSSFH | RIIPQFMCQG | GDFTNHNGTG | GKSIYGKKFD | DENFILKHTG | PGLLSMANSG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PNTNGSQFFL | TCDKTDWLDG | KHVVFGEVTE | GLDVLRQIEA | QGSKDGKPKQ | KVIIADCGEY |
| V |