Q96P16
Gene name |
RPRD1A (P15RS) |
Protein name |
Regulation of nuclear pre-mRNA domain-containing protein 1A |
Names |
Cyclin-dependent kinase inhibitor 2B-related protein, p15INK4B-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55197 |
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
3 structures for Q96P16
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4JXT | X-ray | 190 A | A | 1-137 | PDB |
| 4NAC | X-ray | 200 A | A/B | 1-131 | PDB |
| AF-Q96P16-F1 | Predicted | AlphaFoldDB |
166 variants for Q96P16
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs774131938 CA8938891 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748892078 CA8938889 |
5 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8938887 rs769263531 |
7 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402200626 rs1432641941 |
8 | A>T | No |
ClinGen gnomAD |
|
|
rs78759517 CA298663329 |
10 | E>G | No |
ClinGen Ensembl |
|
|
rs1319625006 CA402200591 |
11 | K>R | No |
ClinGen gnomAD |
|
|
CA402200574 rs1432889368 |
12 | K>N | No |
ClinGen gnomAD |
|
|
COSM1264566 rs757714667 CA8938884 |
14 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA298663318 rs1029427212 |
14 | S>T | No |
ClinGen TOPMed |
|
|
CA298663304 rs757714667 |
14 | S>W | No |
ClinGen ExAC TOPMed |
|
|
rs76432625 CA298663283 |
16 | L>V | No |
ClinGen Ensembl |
|
|
rs1598686244 CA402200527 |
17 | S>T | No |
ClinGen Ensembl |
|
|
CA402200517 rs1389798761 |
18 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA402200503 rs1447718530 |
19 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8938882 rs138029311 |
20 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_037229 | 21 | Q>H | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA8938878 rs759516825 |
28 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA402200297 rs1216019007 |
38 | R>C | No |
ClinGen gnomAD |
|
|
CA8938875 rs761774077 |
38 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA402200260 rs1303294462 |
42 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402200225 rs1362664771 |
45 | E>V | No |
ClinGen TOPMed |
|
|
rs762635649 CA8938872 |
49 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402198991 rs1328384016 |
60 | L>F | No |
ClinGen gnomAD |
|
|
CA402198984 rs1598636974 |
61 | Y>S | No |
ClinGen Ensembl |
|
|
rs764828851 CA8938852 |
67 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs111706297 CA298678950 |
79 | K>E | No |
ClinGen Ensembl |
|
|
CA298678943 rs1028905977 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs1198164144 CA402198814 |
85 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs897472561 CA298678934 |
85 | I>V | No |
ClinGen Ensembl |
|
|
CA402198736 rs1412325021 |
95 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs772741025 CA8938814 |
95 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA402198738 rs1412325021 |
95 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA402198726 rs1308186217 |
96 | T>I | No |
ClinGen gnomAD |
|
|
CA402198727 rs1308186217 |
96 | T>S | No |
ClinGen gnomAD |
|
|
CA402198725 rs1428882166 |
97 | D>N | No |
ClinGen gnomAD |
|
|
CA8938813 rs762363915 |
99 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA402198707 rs1164754566 |
99 | S>N | No |
ClinGen gnomAD |
|
|
CA402198676 rs1458394091 |
103 | H>Y | No |
ClinGen gnomAD |
|
|
rs749541565 CA8938811 |
107 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8938810 rs749541565 |
107 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8938809 rs780310615 |
109 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769850382 CA8938808 |
110 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8938806 rs781199117 COSM3422155 COSM3422157 |
120 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8938805 rs758378117 |
121 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA298676408 rs924893698 |
123 | E>D | No |
ClinGen TOPMed |
|
|
CA8938803 rs778636902 |
124 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA402198519 rs1568133544 |
126 | K>R | No |
ClinGen Ensembl |
|
|
rs753515329 CA8938801 |
127 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234568122 CA402198507 |
128 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760366747 CA8938799 |
130 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1028191023 CA298676310 |
131 | G>D | No |
ClinGen gnomAD |
|
|
rs1288805715 CA402198464 |
133 | K>Q | No |
ClinGen TOPMed |
|
|
rs778919387 CA8938785 |
133 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753702057 CA8938783 |
135 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA402198447 rs1384300502 |
135 | P>L | No |
ClinGen TOPMed |
|
|
rs779668769 CA8938782 |
136 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8938781 rs755883351 |
137 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA402198430 rs1406061908 |
138 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA402198431 rs1406061908 |
138 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM988186 rs1174471975 CA402198429 |
138 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1377484096 CA402198418 |
140 | Y>C | No |
ClinGen gnomAD |
|
|
CA8938780 rs750072530 |
140 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8938778 rs767204777 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8938777 rs761397530 |
144 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207562987 CA402198379 |
145 | V>G | No |
ClinGen gnomAD |
|
|
rs1294731184 CA402198372 |
146 | D>E | No |
ClinGen TOPMed |
|
|
CA298676248 rs982502014 |
148 | N>D | No |
ClinGen TOPMed |
|
|
rs750975524 CA8938776 |
151 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs750975524 CA402198336 |
151 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs951298795 CA298676224 |
155 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 158 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758982237 CA8938754 |
163 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs142970983 CA298672425 |
164 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA402198240 rs1316859387 |
165 | D>N | No |
ClinGen TOPMed |
|
|
CA402198227 rs1212802214 |
167 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1381211447 CA402198215 |
168 | R>S | No |
ClinGen gnomAD |
|
|
CA402198214 rs1286054840 |
169 | A>T | No |
ClinGen gnomAD |
|
|
CA8938750 rs776910476 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA402198195 rs1431846788 |
171 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA402198169 rs1207447477 |
175 | N>S | No |
ClinGen TOPMed |
|
|
rs773394858 CA8938747 |
176 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1408764022 CA402198152 |
178 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772016009 CA8938746 |
178 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181968143 CA402198125 |
182 | A>G | No |
ClinGen gnomAD |
|
|
CA402198113 rs1568130590 |
184 | H>R | No |
ClinGen Ensembl |
|
|
rs775556895 CA298672367 |
186 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs935340069 CA298672343 |
188 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs935340069 CA402198084 |
188 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8938742 rs745662634 |
190 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8938741 rs371752785 |
191 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8938740 rs746611301 |
193 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA298672269 rs866790806 |
195 | Q>* | No |
ClinGen Ensembl |
|
|
rs1334338184 CA402198001 |
201 | D>E | No |
ClinGen gnomAD |
|
|
rs1103 CA298672252 |
204 | T>A | No |
ClinGen Ensembl |
|
|
rs1158606173 CA402197982 |
204 | T>R | No |
ClinGen TOPMed |
|
|
CA402197960 rs1427980742 |
206 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8938717 rs747685598 |
207 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA298672098 rs1102 |
208 | S>P | No |
ClinGen Ensembl |
|
|
CA402197939 rs1457250427 |
209 | G>R | No |
ClinGen gnomAD |
|
|
CA402197931 rs1362882196 |
210 | E>A | No |
ClinGen gnomAD |
|
|
CA402197925 rs1178424972 |
211 | R>G | No |
ClinGen TOPMed |
|
|
rs755531779 CA8938715 |
211 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA298672063 rs370259374 |
216 | V>L | No |
ClinGen ESP |
|
|
rs1434540090 CA402197878 |
218 | D>N | No |
ClinGen gnomAD |
|
|
rs754314786 COSM1480314 CA8938714 |
219 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8938711 rs750743635 |
220 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA402197835 rs1296220201 |
224 | A>T | No |
ClinGen TOPMed |
|
|
rs767638938 CA8938710 |
226 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA402197812 rs1394682621 |
227 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402197788 rs1486201477 |
231 | A>T | No |
ClinGen gnomAD |
|
|
COSM988184 rs369471626 CA8938709 |
231 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314128793 CA402197765 |
234 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs568270468 CA8938707 |
235 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8938705 rs368751642 |
241 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8938704 rs770843027 |
242 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8938703 rs768166102 |
242 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771643524 CA8938701 |
245 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359330723 CA402197681 |
247 | F>I | No |
ClinGen gnomAD |
|
|
CA402197664 rs1172813385 |
249 | R>H | No |
ClinGen gnomAD |
|
|
CA298671953 rs961747482 |
250 | C>G | No |
ClinGen gnomAD |
|
|
rs778437944 CA8938699 |
250 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs778437944 CA8938700 |
250 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA298671941 rs887529279 |
251 | Q>R | No |
ClinGen TOPMed |
|
|
CA8938696 rs780443035 |
254 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402197627 rs1184829975 |
255 | L>V | No |
ClinGen gnomAD |
|
|
rs756578040 CA8938695 |
260 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544990628 CA298809447 |
266 | K>E | No |
ClinGen Ensembl |
|
|
rs767361358 CA402290618 |
267 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767361358 CA8938663 |
267 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8938662 rs149833712 |
267 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383003363 CA402290572 |
275 | V>M | No |
ClinGen gnomAD |
|
|
COSM277114 CA402290564 rs1198214970 |
276 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA402290563 rs918462703 |
276 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA298809445 rs918462703 |
276 | R>L | No |
ClinGen gnomAD |
|
|
rs140057019 CA8938657 |
277 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261646240 CA402290558 |
277 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA298809444 rs984205975 |
278 | E>D | No |
ClinGen Ensembl |
|
|
CA402290554 rs1395020730 |
278 | E>K | No |
ClinGen gnomAD |
|
|
rs747405130 CA8938652 |
282 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8938653 rs771497563 |
282 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948620722 CA402290512 CA298809443 |
284 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778230833 CA8938651 |
285 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1219865966 CA402290498 |
287 | P>A | No |
ClinGen gnomAD |
|
|
rs1568108598 CA402290474 |
290 | S>F | No |
ClinGen Ensembl |
|
|
CA8938650 rs758740817 |
290 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 290 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971830369 CA298809442 |
291 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748368061 CA8938649 |
292 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs146097569 CA8938648 |
294 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8938645 rs781114893 |
296 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757146784 CA402290426 |
298 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751377732 CA8938643 |
299 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8938642 rs763856571 |
301 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs762553843 CA402290407 |
301 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs762553843 CA8938641 |
301 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1412155283 CA402290396 |
303 | P>H | No |
ClinGen gnomAD |
|
|
rs1056979561 CA298809441 |
303 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752379681 CA298809440 |
305 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8938640 rs752379681 |
305 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs907942364 CA298809439 |
307 | D>G | No |
ClinGen TOPMed |
|
|
CA402290328 rs771583595 |
313 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8938636 rs771583595 |
313 | D>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with Q96P16
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| RNA polymerase II, holoenzyme | A nuclear DNA-directed RNA polymerase complex containing an RNA polymerase II core enzyme as well as additional proteins and transcription factor complexes, that are capable of promoter recognition and transcription initiation from an RNA polymerase II promoter in vivo. These additional components may include general transcription factor complexes TFIIA, TFIID, TFIIE, TFIIF, or TFIIH, as well as Mediator, SWI/SNF, GCN5, or SRBs and confer the ability to recognize promoters. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| RNA polymerase II complex binding | Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| dephosphorylation of RNA polymerase II C-terminal domain | The process of removing a phosphate group from an amino acid residue in the C-terminal domain of RNA polymerase II. Some dephosphorylation occurs during transcription while some may occur after the enzyme is released from the template in order to prepare it for the beginning of the transcription cycle again. RNA polymerase II with little or no phosphorylation is referred to as the hypophosphorylated or II(A) form. |
| mRNA 3'-end processing | Any process involved in forming the mature 3' end of an mRNA molecule. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NQG5 | RPRD1B | Regulation of nuclear pre-mRNA domain-containing protein 1B | Homo sapiens (Human) | PR |
| Q9CSU0 | Rprd1b | Regulation of nuclear pre-mRNA domain-containing protein 1B | Mus musculus (Mouse) | PR |
| Q8VDS4 | Rprd1a | Regulation of nuclear pre-mRNA domain-containing protein 1A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAFSEAALE | KKLSELSNSQ | QSVQTLSLWL | IHHRKHSRPI | VTVWERELRK | AKPNRKLTFL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YLANDVIQNS | KRKGPEFTKD | FAPVIVEAFK | HVSSETDESC | KKHLGRVLSI | WEERSVYEND |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLEQLKQALY | GDKKPRKRTY | EQIKVDENEN | CSSLGSPSEP | PQTLDLVRAL | QDLENAASGD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AAVHQRIASL | PVEVQEVSLL | DKITDKESGE | RLSKMVEDAC | MLLADYNGRL | AAEIDDRKQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TRMLADFLRC | QKEALAEKEH | KLEEYKRKLA | RVSLVRKELR | SRIQSLPDLS | RLPNVTGSHM |
| 310 | |||||
| HLPFAGDIYS | ED |