F8WFD2
PR
Gene name |
NPIPA3 |
Protein name |
Nuclear pore complex-interacting protein family member A3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:642778 |
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 F8WFD2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-F8WFD2-F1 | Predicted | AlphaFoldDB |
77 variants for F8WFD2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA395188283 rs1555518854 |
13 | G>S | No |
ClinGen Ensembl |
|
|
CA395188292 rs1555518855 |
14 | C>Y | No |
ClinGen Ensembl |
|
|
CA395188765 rs1555519229 |
78 | H>L | No |
ClinGen Ensembl |
|
|
CA395188783 rs1419182307 |
81 | S>P | No |
ClinGen gnomAD |
|
|
rs1478283660 CA395188865 |
93 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1173039002 CA395188868 |
93 | R>H | No |
ClinGen gnomAD |
|
|
rs1404140039 CA395188873 |
94 | R>C | No |
ClinGen gnomAD |
|
|
CA395189080 rs1268225691 |
122 | C>R | No |
ClinGen gnomAD |
|
|
CA395189232 rs1360963443 |
143 | A>T | No |
ClinGen gnomAD |
|
|
CA395189237 rs1555519251 |
143 | A>V | No |
ClinGen Ensembl |
|
|
rs1555519322 CA395189338 |
156 | E>K | No |
ClinGen Ensembl |
|
|
CA395189590 rs1320958435 |
187 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1233886272 CA395189596 |
188 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1273605837 CA395189603 |
189 | Q>R | No |
ClinGen TOPMed |
|
|
CA395189621 rs1359598976 |
192 | R>W | No |
ClinGen TOPMed |
|
|
rs1268642934 CA395189627 |
193 | R>Q | No |
ClinGen TOPMed |
|
|
rs1278628845 CA395189631 |
194 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1214213560 CA395189720 |
204 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395189752 rs1597035030 |
209 | K>N | No |
ClinGen Ensembl |
|
|
rs1597035050 CA395189783 |
214 | R>W | No |
ClinGen Ensembl |
|
|
rs1422607936 CA395190400 |
218 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7913075 rs62037507 |
220 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278963462 rs986614366 |
223 | R>C | No |
ClinGen TOPMed |
|
|
rs1400447511 CA395190434 |
223 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs912020977 CA278963463 |
224 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 228 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299805043 CA395190477 |
230 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1329102546 CA395190488 |
231 | W>C | No |
ClinGen TOPMed |
|
|
CA395190544 rs1274949585 |
240 | K>E | No |
ClinGen gnomAD |
|
|
rs1437208441 CA395190573 |
243 | M>I | No |
ClinGen gnomAD |
|
|
CA395190584 rs1597036398 |
245 | H>P | No |
ClinGen Ensembl |
|
|
rs1274396277 CA395190593 |
246 | Q>R | No |
ClinGen gnomAD |
|
|
rs1221540770 CA395190607 |
248 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1488894490 CA395190647 |
254 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs202008061 CA278963466 |
257 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1275765231 CA395190691 |
260 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1457586296 CA395190707 |
263 | L>F | No |
ClinGen TOPMed |
|
|
rs1267144702 CA395190710 |
263 | L>R | No |
ClinGen gnomAD |
|
|
CA395190724 rs1263445741 |
265 | T>I | No |
ClinGen TOPMed |
|
|
rs1341832841 CA395190731 |
267 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395190737 rs1248644335 |
268 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395190750 rs1239101956 |
269 | C>Y | No |
ClinGen TOPMed |
|
|
rs1158055947 CA395190767 |
272 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1468713456 CA395190765 |
272 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1406462698 CA395190809 |
279 | L>P | No |
ClinGen TOPMed |
|
|
CA395190828 rs1379691458 |
282 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395190843 rs1160248529 |
284 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA395190880 rs1363429184 |
290 | A>P | No |
ClinGen gnomAD |
|
|
CA395190884 rs1385904694 |
290 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395190904 rs1205209878 |
293 | L>P | No |
ClinGen TOPMed |
|
|
rs1244078913 CA395190902 |
293 | L>V | No |
ClinGen TOPMed |
|
|
CA395190915 rs1278439638 |
295 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395190918 rs1355067325 |
295 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395190933 rs1597036831 |
297 | L>R | No |
ClinGen Ensembl |
|
|
rs1242892763 CA395190958 |
301 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1359230661 CA395191010 |
309 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1597036915 CA395191020 |
310 | E>V | No |
ClinGen Ensembl |
|
|
CA278963468 rs200000305 |
313 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395191040 rs1597036952 |
313 | L>R | No |
ClinGen Ensembl |
|
|
CA395191036 rs200000305 |
313 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395191042 rs1338974767 |
314 | T>A | No |
ClinGen TOPMed |
|
|
CA395191044 rs1333738321 |
314 | T>N | No |
ClinGen TOPMed |
|
|
rs1338974767 CA395191043 |
314 | T>S | No |
ClinGen TOPMed |
|
|
rs1181185805 CA395191088 |
321 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395191091 rs1597037002 |
322 | P>S | No |
ClinGen Ensembl |
|
|
rs1238805896 CA395191105 |
324 | V>A | No |
ClinGen gnomAD |
|
|
rs1238805896 CA395191104 |
324 | V>E | No |
ClinGen gnomAD |
|
|
CA395191134 rs1597037058 |
328 | L>I | No |
ClinGen Ensembl |
|
|
CA395191162 rs1440263003 |
332 | P>A | No |
ClinGen gnomAD |
|
|
CA278963469 rs201173374 |
333 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1457257543 CA395191170 |
333 | K>R | No |
ClinGen gnomAD |
|
|
rs1163606788 CA395191173 |
334 | C>S | No |
ClinGen gnomAD |
|
|
rs1407788397 CA395191201 |
338 | L>I | No |
ClinGen gnomAD |
|
|
CA278963470 rs879003873 |
344 | R>W | No |
ClinGen gnomAD |
|
|
CA395191252 rs1597037267 |
345 | M>R | No |
ClinGen Ensembl |
|
|
CA395191274 rs1376946461 |
348 | S>* | No |
ClinGen gnomAD |
|
|
rs1597037287 CA395191272 |
348 | S>A | No |
ClinGen Ensembl |
No associated diseases with F8WFD2
No regional properties for F8WFD2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for F8WFD2 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E9PJI5 | NPIPA7 | Nuclear pore complex-interacting protein family member A7 | Homo sapiens (Human) | PR |
| P0DM63 | NPIPA8 | Nuclear pore complex-interacting protein family member A8 | Homo sapiens (Human) | PR |
| Q9UND3 | NPIPA1 | Nuclear pore complex-interacting protein family member A1 | Homo sapiens (Human) | PR |
| E9PIF3 | NPIPA2 | Nuclear pore complex-interacting protein family member A2 | Homo sapiens (Human) | PR |
| E9PKD4 | NPIPA5 | Nuclear pore complex-interacting protein family member A5 | Homo sapiens (Human) | PR |
| A6NJ64 | NPIPB2 | Putative nuclear pore complex-interacting protein family member B2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFCCLGYEWL | SGGCKTWHSA | WVINTLADHR | HRGTDFGGSP | WLLIITVFLR | SYKFAISLCT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYLCVSFLKT | IFPSQNGHDG | STDVQQRARR | SNRRRQEGIK | IVLEDIFTLW | RQVETKVRAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ICKMKVTTKV | NRHDKINGKR | KTAKEHLRKL | SMKEREHGEK | ERQVSEAEEN | GKLDMKEIHT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YMEMFQRAQA | LRRRAEDYYR | CKITPSARKP | LCNRVRMAAA | EHRHSSGLPY | WPYLTAETLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NRMGHQPPPP | TQQHSIIDNS | LSLKTPPECL | LTPLPPSALP | SADDNLKTPA | ECLLYPLPPS |
| 310 | 320 | 330 | 340 | ||
| ADDNLKTPPE | CLLTPLPPSA | PPSVDDNLKT | PPKCVCSLPF | HPQRMIISRN |