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The 25 RRM Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthRRM RegionMutationInvolvement of Repeats in Mutations
1 Q13247 Serine/arginine-rich splicing factor 6 344280 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 28211 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 589105 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 414106 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 636455 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 41520 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 755136 136 Y->D: Loss of interaction with U snRNPs
Y
8 P09651 Heterogeneous nuclear ribonucleoprotein A1 372326 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 420404 404 G->A: Reduces significantly its nuclear localization
N
10 P26368 Splicing factor U2AF 65 kDa subunit 47592 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 24858 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 48663 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 977574 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 36437 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 577213 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 579213 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 326158 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 353207 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 "707535 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 599211 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 566172 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 698349 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 59459 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 471267 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 523119 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