S.NO | Uniprot ID | Protein Name | Sequence Length | RRM Region | Mutation | Involvement of Repeats in Mutations |
1 | Q13247 | Serine/arginine-rich splicing factor 6 | 344 | 280 280 S->A: No effect on regulation of alternative splicing of MAPT/Tau exon 10 by DYRK1A 303 303 S->A: Abolishes regulatory effect of DYRK1A on alternative splicing of MAPT/Tau exon 10 316 316 S->A: No effect on regulation of alternative splicing of MAPT/Tau exon 10 by DYRK1A | N | |
2 | P09012 | U1 small nuclear ribonucleoprotein A | 282 | 11 11 T->V: Abolishes RNA binding 13 13 Y->F: Substantially reduces RNA binding 15 15 N->V: Abolishes RNA binding 16 16 N->V: Substantially reduces RNA binding 52 52 R->Q: Abolishes RNA binding | Y | |
3 | P14866 | Heterogeneous nuclear ribonucleoprotein L | 589 | 105 105 H->A: 6-fold decrease in RNA-binding affinity 132 132 V->A: 4-fold increase in RNA-binding affinity 141 141 L->A: 15-fold decrease in RNA-binding affinity when associated with A-174 172 172 N->A: 1-fold increase in RNA-binding affinity 174 174 S->A: 15-fold decrease in RNA-binding affinity when associated with A-174 504 504 H->A: Significant decrease in RNA-binding affinity 506 506 F->A: Significant decrease in RNA-binding affinity | Y | |
4 | Q13148 | TAR DNA-binding protein 43 | 414 | 106 175
106 175 Missing: Completely abolishes RNA binding 106 111 106 111 LIVLGL->DIDLGD: Completely abolishes RNA binding 106 111 106 111 Missing: Completely abolishes RNA binding 147 149 147 149 FGF->LGL: Highly reduces binding to RNA and DNA 193 257 193 257 Missing: Alters but does not abolish RNA binding | Y | |
5 | P11940 | Polyadenylate-binding protein 1 | 636 | 455 455 R->A: Greatly reduces methylation by CARM1 (in vitro) when associated with A-460 460 460 R->A: Greatly reduces methylation by CARM1 (in vitro) when associated with A-455 | N | |
6 | P52597 | Heterogeneous nuclear ribonucleoprotein F | 415 | 20 20 W->A: Loss of RNA-binding 84 84 E->A: Loss of RNA-binding 116 116 R->A: Decreases affinity for RNA oligonucleotide 100-fold 120 120 F->A: Little disruption of binding RNA when associated with A-180 150 150 K->A: No effect on affinity for RNA oligonucleotide 156 156 F->A: Drastically effects folding of RRM2 173 173 K->A: Minimal effect on affinity for RNA oligonucleotide 178 178 H->A: Little disruption of binding RNA 179 179 R->A: Decreases affinity for RNA oligonucleotide 100-fold 180 180 Y->A: Decreases affinity for RNA oligonucleotide 10-fold when associated with A-120 182 182 E->A: Decreases affinity for RNA oligonucleotide 100-fold 184 184 F->A: Minimal effect on affinity for RNA oligonucleotide | Y | |
7 | O43719 | HIV Tat-specific factor 1 | 755 | 136 136 Y->D: Loss of interaction with U snRNPs | Y | |
8 | P09651 | Heterogeneous nuclear ribonucleoprotein A1 | 372 | 326 326 G->A: No nuclear import nor export 327 327 P->A: No nuclear import nor export 334 335 334 335 GG->LL: Normal nuclear import and export | N | |
9 | O14979 | Heterogeneous nuclear ribonucleoprotein D-like | 420 | 404 404 G->A: Reduces significantly its nuclear localization | N | |
10 | P26368 | Splicing factor U2AF 65 kDa subunit | 475 | 92 92 W->A: Decreases affinity for UAF1 by 3 orders of magnitude 96 96 P->G: Decreases affinity for UAF1 by 2 orders of magnitude 104 104 P->G: Decreases affinity for UAF1 by 2 orders of magnitude 387 388 387 388 EE->RR: Reduces interaction with SF1 391 394 391 394 DDEE->AAAA: Reduces interaction with SF1 391 394 391 394 DDEE->RRKK: Reduces interaction with SF1 396 397 396 397 EE->AA: No effect 396 397 396 397 EE->GA: Reduces interaction with SF1 396 397 396 397 EE->KK: Reduces interaction with SF1 454 454 F->A: Reduces interaction with SF1 | Y | |
11 | Q07955 | Serine/arginine-rich splicing factor 1 | 248 | 58 59
58 59 FV->SR: In FV1 loss of ability to activate splicing 93 93 R->A: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs when associated with Ala-97 and Ala-109 97 97 R->A: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs when associated with Ala-93 and Ala-109 109 109 R->A: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs when associated with Ala-93 and Ala-97 162 163 162 163 FV->SR: In FV2 loss of ability to activate splicing 162 162 F->A: In AV loss of ability to activate splicing 162 162 F->D: Reduced nucleocytoplasmic shuttling when associated with D-190 180 180 F->D: Reduced nucleocytoplasmic shuttling when associated with D-162 182 248 182 248 Missing: In MR-B strongly inhibits splicing 182 199 182 199 Missing: In MR-E loss of ability to activate splicing 192 248 192 248 Missing: In MR-A loss of ability to activate splicing 192 199 192 199 Missing: In MR-D loss of ability to activate splicing 199 224 199 224 Missing: In RS-A loss of ability to activate splicing but retains splice site switching 215 248 215 248 Missing: In RS-C loss of ability to activate splicing but retains splice site switching 226 248 226 248 Missing: In RS-B retains both splice activation and splice site switching activity | Y | |
12 | Q92879 | CUGBP Elav-like family member 1 | 486 | 63 63 F->L: Does not reduce RNA-binding when associated with D-331 and F-472 when associated with D-331 and F-472 331 331 G->D: Does not reduce RNA-binding when associated with L-63 and F-472 when associated with D-331 and F-472 472 472 L->F: Does not reduce RNA-binding when associated with L-63 and D-331 when associated with D-331 and F-472 | Y | |
13 | Q96T37 | RNA-binding protein 15 | 977 | 574 578
574 578 RDRDR->KDKDK: Decreased, but not abolished methylation by PRMT1 578 578 R->K: Decreased methylation by PRMT1, leading to decreased ubiquitination by CNOT4 795 795 K->A: Disrupts interaction with SETD1B 898 898 K->A: Disrupts interaction with SETD1B 923 923 F->A: Disrupts interaction with SETD1B | N | |
14 | Q9BWF3 | RNA-binding protein 4 | 364 | 37 37 Y->A: Abrogates regulation of alternative splice site selection when associated with A-39 A-113 and A-115 39 39 F->A: Abrogates regulation of alternative splice site selection when associated with A-37 A-113 and A-115 113 113 Y->A: Abrogates regulation of alternative splice site selection when associated with A-37 A-39 and A-115 115 115 F->A: Abrogates regulation of alternative splice site selection when associated with A-37 A-39 and A-113 309 309 S->A: Inhibits IRES-mediated mRNA translation | Y | |
15 | Q9NZI8 | Insulin-like growth factor 2 mRNA-binding protein 1 | 577 | 213 214
213 214 KE->EL: 50-fold decrease in RNA-binding affinity, decreased location in cytoplasmic RNP, increased nuclear location when associated with 294-E-L-295 and 423-E-L-424 294 295 294 295 KE->EL: 50-fold decrease in RNA-binding affinity, decreased location in cytoplasmic RNP, increased nuclear location when associated with 213-E-L-214 and 423-E-L-424 423 424 423 424 KK->EL: 50-fold decrease in RNA-binding affinity, decreased location in cytoplasmic RNP, increased nuclear location when associated with 213-E-L-214 and 294-E-L-295 | N | |
16 | O00425 | Insulin-like growth factor 2 mRNA-binding protein 3 | 579 | 213 213 K->E: Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location when associated with E-294 422-E-E-423 and 505-E-E-506 294 294 K->E: Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, Modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location when associated with E-213 422-E-E-423 and 505-E-E-506 423 424 423 424 KQ->EE: Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, Modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location when associated with E-213 E-294 and 505-E-E-506 505 506 505 506 KG->EE: Loss of homo- and heterooligomerization with IGF2BP1 and IGF2BP2, Modestly impaired binding to ACTB and MYC transcripts and almost no effect on ELAVL1-, DHX9- and HNRNPU-binding, nor on subcellular location when associated with E-213 E-294 and 422-E-E-423 | N | |
17 | Q15717 | ELAV-like protein 1 | 326 | 158 158 S->A: Decreases phosphorylation by PRKCD 221 221 S->A: Decreases phosphorylation by PRKCD when associated with A-318 318 318 S->A: Decreases phosphorylation by PRKCD when associated with A-221 | Y | |
18 | P22626 | Heterogeneous nuclear ribonucleoproteins A2/B1 | 353 | 207 207 F->S: Does not affect hydrogel-binding 209 209 F->S: Does not affect hydrogel-binding 219 219 F->S: Does not affect hydrogel-binding 227 227 F->S: Does not affect hydrogel-binding 234 234 Y->S: Does not affect hydrogel-binding 240 240 F->S: Does not affect hydrogel-binding 244 244 Y->S: Does not affect hydrogel-binding 247 247 Y->S: Slightly affects hydrogel-binding 256 256 F->S: Does not affect hydrogel-binding 262 262 Y->S: Slightly affects hydrogel-binding 269 269 Y->S: Does not affect hydrogel-binding 276 276 Y->S: Impairs hydrogel-binding 283 283 Y->S: Slightly affects hydrogel-binding 287 287 Y->S: Does not affect hydrogel-binding 290 290 Y->S: Impairs hydrogel-binding 295 295 Y->S: Impairs hydrogel-binding 300 300 Y->S: Slightly affects hydrogel-binding 303 303 F->S: Impairs hydrogel-binding 306 306 Y->S: Slightly affects hydrogel-binding 313 313 Y->S: Slightly affects hydrogel-binding 321 321 F->S: Impairs hydrogel-binding 331 331 Y->S: Impairs hydrogel-binding 336 336 Y->S: Slightly affects hydrogel-binding 347 347 Y->S: Does not affect hydrogel-binding 353 353 Y->S: Does not affect hydrogel-binding | N | |
19 | P23246 | "Splicing factor, proline- and glutamine-rich " | 707 | 535 535 L->A: Impairs DNA binding and ability to mediate transcriptional activation when associated with A-539 A-546 and A-549 539 539 L->A: Impairs DNA binding and ability to mediate transcriptional activation when associated with A-535 A-546 and A-549 546 546 L->A: Impairs DNA binding and ability to mediate transcriptional activation when associated with A-535 A-539 and A-549 549 549 M->A: Impairs DNA binding and ability to mediate transcriptional activation when associated with A-535 A-539 and A-546 687 687 T->A: Abolishes phosphorylation by GSK3B 687 687 T->D: No effect on interaction with THRAP3 (phosphomimetic) | N | |
20 | Q9Y6M1 | Insulin-like growth factor 2 mRNA-binding protein 2 | 599 | 211 211 K->E: Significantly impaired binding to ACTB transcript, but little effect on MYC transcript binding, accumulation in the nucleus when associated with E-292 when associated with E-292 445-E-E-446 and 526-E-E-527 292 292 K->E: Significantly impaired binding to ACTB transcript, but little effect on MYC transcript binding, accumulation in the nucleus when associated with E-211 when associated with E-211 445-E-E-445 and 526-E-E-527 445 446 445 446 KK->EE: Significantly impaired binding to ACTB and MYC transcripts when associated with 527-E-E-528 when associated with E-211 E-292 and 527-E-E-528 527 528 527 528 KG->EE: Significantly impaired binding to ACTB and MYC transcripts when associated with 445-E-E-446 when associated with E-211 E-292 and 445-E-E-446 | N | |
21 | Q9BZB8 | Cytoplasmic polyadenylation element-binding protein 1 | 566 | 172 172 T->A: Does not affect its localization 172 172 T->D: Does not affect its localization 314 314 F->A: Abolishes stress granule assembly and correct localization in dcp1 bodies 545 545 H->A: Abolishes stress granule assembly and correct localization in dcp1 bodies | Y | |
22 | Q8NE35 | Cytoplasmic polyadenylation element-binding protein 3 | 698 | 349 349 L->A: Abolishes nuclear export when associated with A-353 353 353 L->A: Abolishes nuclear export when associated with A-349 441 441 R->A: Does not impair RNA binding 444 444 F->A,N: Abolishes RNA binding 444 444 F->Y: Does not impair RNA binding 446 446 G->A: Does not impair RNA binding 463 463 R->A: Does not impair RNA binding 470 470 D->A: Does not impair RNA binding 474 474 K->A: Does not impair RNA binding 479 479 S->A: Does not impair RNA binding 488 488 F->A: Reduced RNA binding 488 488 F->Y: Does not impair RNA binding 528 528 R->A: Does not impair RNA binding | Y | |
23 | Q9NQ94 | APOBEC1 complementation factor | 594 | 59 59 F->A: Greatly reduced RNA binding 100 100 F->A: Greatly reduced RNA binding 139 139 F->A: Greatly reduced RNA binding 183 183 F->A: Greatly reduced RNA binding 234 234 Y->A: Slightly reduced RNA binding 270 270 F->A: Slightly reduced RNA binding | Y | |
24 | Q15233 | Non-POU domain-containing octamer-binding protein | 471 | 267 267 Y->A: Abolishes interaction with PSPC1 and localization in nuclear paraspeckles when associated with A-271 271 271 W->A: Abolishes interaction with PSPC1 and localization in nuclear paraspeckles when associated with A-267 | N | |
25 | Q8WXF1 | Paraspeckle component 1 | 523 | 119 119 F->A: Abolishes accumulation in paraspeckles, but not in perinucleolar caps when associated with A-121 A-198 and A-200 121 121 F->A: Abolishes accumulation in paraspeckles, but not in perinucleolar caps when associated with A-119 A-198 and A-200 198 198 K->A: Abolishes accumulation in paraspeckles, but not in perinucleolar caps when associated with A-119 A-121 and A-200 200 200 F->A: Abolishes accumulation in paraspeckles, but not in perinucleolar caps when associated with A-119 A-121 and A-198 275 275 Y->A: Abolishes interaction with NONO and localization in nuclear paraspeckles when associated with A-279 279 279 W->A: Abolishes interaction with NONO and localization in nuclear paraspeckles when associated with A-275 | Y | |