P0DM63
PR
Gene name |
NPIPA8 |
Protein name |
Nuclear pore complex-interacting protein family member A8 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:101059953 |
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 P0DM63
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0DM63-F1 | Predicted | AlphaFoldDB |
94 variants for P0DM63
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs71240157 CA279193135 |
15 | T>K | No |
ClinGen Ensembl |
|
|
rs562309429 CA7928314 |
65 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395222787 rs1393912995 |
70 | T>S | No |
ClinGen TOPMed |
|
|
CA279193080 rs992942110 |
70 | T>S | No |
ClinGen TOPMed |
|
|
CA279193079 rs879051485 |
71 | I>L | No |
ClinGen gnomAD |
|
|
rs758113586 CA395222768 |
73 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758113586 CA395222767 |
73 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758113586 CA7928312 |
73 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766005192 CA7928313 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271014160 CA395222759 |
75 | Q>E | No |
ClinGen gnomAD |
|
|
CA7928310 rs764892186 |
75 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA395222729 rs1278518532 |
79 | D>Y | No |
ClinGen gnomAD |
|
|
rs1245650084 CA395222720 |
80 | G>V | No |
ClinGen TOPMed |
|
|
CA395222706 rs1230975684 |
82 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1323694955 CA395222691 |
85 | Q>* | No |
ClinGen gnomAD |
|
|
rs1323694955 CA395222690 |
85 | Q>E | No |
ClinGen gnomAD |
|
|
CA395222687 rs1386687644 |
85 | Q>R | No |
ClinGen gnomAD |
|
|
CA395222677 rs1252797341 |
86 | Q>H | No |
ClinGen TOPMed |
|
|
CA395222675 rs1485578693 |
87 | R>G | No |
ClinGen TOPMed |
|
|
rs540465602 CA279193078 |
89 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
CA395222654 rs1596808568 |
90 | R>K | No |
ClinGen Ensembl |
|
|
CA395222648 rs1458036185 |
91 | S>P | No |
ClinGen gnomAD |
|
|
rs1157031326 CA395222633 |
93 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395222631 rs776363481 |
93 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7928308 rs776363481 |
93 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378243445 CA395222630 |
94 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1198307679 CA395222627 |
94 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1378243445 CA395222628 |
94 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1222819580 CA395222609 |
97 | E>K | No |
ClinGen gnomAD |
|
|
CA395222581 rs1163707958 |
99 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395222564 rs1190416065 |
101 | I>T | No |
ClinGen gnomAD |
|
|
CA395222557 rs1232286022 |
102 | V>A | No |
ClinGen TOPMed |
|
|
rs1473737298 CA395222551 |
103 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395222535 CA395222536 rs1450055703 |
105 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1187758982 CA395222530 |
106 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395222509 rs1251769898 |
109 | L>S | No |
ClinGen TOPMed |
|
|
rs963672778 CA279193075 |
110 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1195182646 CA395222501 |
110 | W>* | No |
ClinGen TOPMed |
|
|
rs1241287540 CA395222505 |
110 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399935820 CA395222471 |
114 | E>D | No |
ClinGen TOPMed |
|
|
rs1346918157 CA395222448 |
118 | R>* | No |
ClinGen TOPMed |
|
|
rs1457650102 CA395222446 |
118 | R>Q | No |
ClinGen TOPMed |
|
|
rs377282038 CA7928307 |
122 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1278807030 CA395222421 |
122 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1209726676 CA395222405 |
124 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1209726676 CA395222406 |
124 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395222387 rs1276884833 |
127 | T>A | No |
ClinGen TOPMed |
|
|
CA395222384 rs1450487891 |
127 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395222383 rs1450487891 |
127 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA279193073 rs1018310704 |
128 | T>A | No |
ClinGen TOPMed |
|
|
rs1299260004 CA395222368 |
130 | V>I | No |
ClinGen gnomAD |
|
|
CA395222353 rs1229747331 |
132 | R>C | No |
ClinGen gnomAD |
|
|
CA395222351 rs1361926616 |
132 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395222331 rs1214983866 |
135 | K>E | No |
ClinGen TOPMed |
|
|
rs1246957209 CA395222313 |
137 | N>S | No |
ClinGen TOPMed |
|
|
rs1469267060 CA395222292 |
140 | R>K | No |
ClinGen TOPMed |
|
|
CA395222290 rs1450580426 |
140 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395222275 rs1472794851 |
142 | T>I | No |
ClinGen TOPMed |
|
|
rs1472794851 CA395222276 |
142 | T>N | No |
ClinGen TOPMed |
|
|
rs1360110783 CA395222272 |
143 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1312437285 CA395222264 |
144 | K>R | No |
ClinGen gnomAD |
|
|
rs1433154980 CA395222258 |
145 | E>K | No |
ClinGen gnomAD |
|
|
CA395222251 rs1372454761 |
146 | H>D | No |
ClinGen gnomAD |
|
|
rs1325686123 CA395222232 |
147 | L>M | No |
ClinGen gnomAD |
|
|
CA279193041 rs956861195 |
147 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1230537239 CA395222215 |
149 | K>N | No |
ClinGen gnomAD |
|
|
rs1380330237 CA395222196 |
152 | M>T | No |
ClinGen gnomAD |
|
|
rs1413144332 CA395222175 |
155 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1352512031 CA395222172 |
155 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395222162 rs1308902666 |
156 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs759672896 CA395222153 |
158 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759672896 CA7928306 |
158 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352851552 CA395222151 |
158 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395222139 rs1168219471 |
160 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1246779872 CA395222136 |
160 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs113159992 CA279193040 |
162 | R>G | No |
ClinGen Ensembl |
|
|
CA395222121 rs1407080664 |
162 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395222107 rs1418264555 |
164 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7928305 rs774636853 |
167 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279193038 rs999930490 |
168 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA395222084 rs1474115499 |
168 | E>K | No |
ClinGen gnomAD |
|
|
CA395222077 rs1182452728 |
169 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1165701742 CA395222052 |
172 | K>I | No |
ClinGen TOPMed |
|
|
rs1479991071 CA395222022 |
176 | K>E | No |
ClinGen gnomAD |
|
|
rs1224421033 CA395222011 |
177 | E>G | No |
ClinGen gnomAD |
|
|
CA395222015 rs1230731739 |
177 | E>K | No |
ClinGen gnomAD |
|
|
rs1224421033 CA395222010 |
177 | E>V | No |
ClinGen gnomAD |
|
|
rs1273135668 CA395221999 |
179 | H>D | No |
ClinGen gnomAD |
|
|
CA395221909 rs1555461769 |
189 | Q>R | No |
ClinGen Ensembl |
|
|
rs1555461753 CA395221346 |
268 | E>K | No |
ClinGen Ensembl |
|
|
CA395221329 rs1555461751 |
270 | V>L | No |
ClinGen Ensembl |
|
|
CA395221127 rs1555461748 |
301 | A>V | No |
ClinGen Ensembl |
|
|
rs1555461746 CA395220853 |
343 | A>V | No |
ClinGen Ensembl |
No associated diseases with P0DM63
No regional properties for P0DM63
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P0DM63 | |||
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 |
| E9PKD4 | NPIPA5 | Nuclear pore complex-interacting protein family member A5 | Homo sapiens (Human) | PR |
| F8WFD2 | NPIPA3 | Nuclear pore complex-interacting protein family member A3 | 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 |
| A6NJ64 | NPIPB2 | Putative nuclear pore complex-interacting protein family member B2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFCCLGYEWL | SGGCTTWHSA | WVINTLADHR | HRGTDFGGSP | WLLIITVFLR | SYKFAISLCT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYLCVSFLKT | IFPSQNGHDG | STDVQQRARR | SNRRRQEGIK | IVLEDIFTLW | RQVETKVRAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IRKMKVTTKV | NRHDKINGKR | KTAKEHLRKL | SMKEREHREE | ERQVSEAEEN | GKLDMKEIHT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YMEMFQRAQA | LRRRAEDYYR | CKITPSARKP | LCNRVRMAAV | EHRHSSGLPY | WPYLTAETLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NRMGHQPPPP | TQQHSIIDNS | LSLKTPSECV | LYPLPPSADD | NLKTPPECLL | TPLPPSALPS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ADDNLKTPAE | CLLYPLPPSA | DDNLKTPPEC | LLTPLPPSAP | PSADDNLKTP | PECVCSLPFH |
| PQRMIISRN |