S.NO | Uniprot ID | Protein Name | Sequence Length | HEAT Repeats region | Mutations | Involvement of Repeats in Mutations |
1 | Q14008 | Cytoskeleton-associated protein 5 | 2032 | 1939 1939 L->A,R: Disrupts interaction with TACC3 1939 1939 L->A: Abolishes localization to spindle microtubules, no effect on localization to centrosomes and kinetochores when associated with A-1942 1942 1942 L->A,R: Disrupts interaction with TACC3 1942 1942 L->A: Abolishes localization to spindle microtubules, no effect on localization to centrosomes and kinetochores when associated with A-1939 | N | |
2 | P42345 | Serine/threonine-protein kinase mTOR | 2549 | 2159 2159 S->A: Reduces mTORC1-associated S-2481 autophosphorylation when associated with A-2164 2159 2159 S->D: Stronger phosphorylation of RPS6KB1 when associated with E-2164 2164 2164 T->A: Reduces mTORC1-associated S-2481 autophosphorylation when associated with A-2159 2164 2164 T->E: Stronger phosphorylation of RPS6KB1 when associated with D-2159 2173 2173 T->A: Increased mTOR kinase activity 2340 2340 H->A: Barely detectable kinase activity | N | |
3 | O75691 | Small subunit processome component 20 homolog | 2785 | 2744 2746 KKK->AAA: Inhibits nucleolar but not nuclear localization 2744 2744 K->A: Does not decrease nucleolar localization 2745 2745 K->A: Does not decrease nucleolar localization 2746 2746 K->A: Decreases nucleolar localization 2748 2749 KK->AA: Inhibits nucleolar but not nuclear localization 2748 2748 K->A: Does not decrease nucleolar localization 2749 2749 K->A: Decreases nucleolar localization 2751 2751 K->A: Does not decrease nucleolar localization 2753 2753 K->A: Does not decrease nucleolar localization 2757 2760 KKRK->AAAA: Inhibits nucleolar localization and decreases nuclear localization 2757 2757 K->A: Does not decrease nucleolar localization 2758 2758 K->A: Does not decrease nucleolar localization 2760 2760 K->A: Does not decrease nucleolar localization | N | |
4 | O75122 | CLIP-associating protein 2 | 1294 | 106 106 W->E: Decreases affinity for microtubules when associated with A-191 E-667 E-833 A-838 and A-839 191 191 K->A: Decreases affinity for microtubules when associated with E-106 E-667 E-833 A-838 and A-839 496 497 IP->AA: No effect on MAPRE1 binding when associated with 519-A-A-520 496 497 IP->SS: Reduced targeting to the growing microtubule plus ends when associated with 519-S-S-520 499 499 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-503 D-507 D-525 D-529 D-533 D-537 and D-541 503 503 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-507 D-525 D-529 D-533 D-537 and D-541 507 507 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-503 D-525 D-529 D-533 D-537 and D-541 519 520 IP->AA: No effect on MAPRE1 binding when associated with 496-A-A-497 519 520 IP->SS: Reduced targeting to the growing microtubule plus ends when associated with 496-S-S-497 525 525 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-503 D-507 D-529 D-533 D-537 and D-541 529 529 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-503 D-507 D-525 D-533 D-537 and D-541 533 533 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-503 D-507 D-525 D-529 D-537 and D-541 537 537 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-503 D-507 D-525 D-529 D-533 and D-541 541 541 S->D: Phosphomimetic mutant that reduces MAPRE1 binding when associated with D-499 D-503 D-507 D-525 D-529 D-533 and D-537 667 667 W->E: Decreases affinity for microtubules when associated with E-106 A-191 E-833 A-838 and A-839 833 833 K->E: Decreases affinity for microtubules when associated with E-106 A-191 E-667 A-838 and A-839 838 838 R->A: Decreases affinity for microtubules when associated with E-106 A-191 E-667 E-833 and A-839 839 839 K->A: Decreases affinity for microtubules when associated with E-106 A-191 E-667 E-833 and A-838 | Y | |
5 | Q6KC79 | Nipped-B-like protein | 2804 | 1003 1003 V->A: Abolishes interaction with CBX3 when associated with A-1005 1003 1003 V->E: Abolishes interaction with CBX5 when associated with E-1005 1005 1005 L->A: Abolishes interaction with CBX3 when associated with A-1003 1005 1005 L->E: Abolishes interaction with CBX5 when associated with E-1003 | N | |
6 | Q92973 | Transportin-1 | 898 | 468 468 W->A: Abolishes interaction with the ADAR nuclear localization signal 738 738 W->A: Abolishes interaction with the ADAR nuclear localization signal | Y | |
7 | Q8IZE3 | Protein-associating with the carboxyl-terminal domain of ezrin | 742 | 2 6 GSENS->M: No Golgi targeting, accumulates in the cytoplasm | N | |
8 | Q14974 | Importin subunit beta-1 | 876 | 178 178 I->A: Largely reduced binding to FxFG repeats and reduced nuclear import 178 178 I->F,D: Loss of binding to FxFG repeats and reduced nuclear import | Y | |
9 | P42858 | Huntingtin | 3142 | 495 495 I->A: Inhibits interaction with ZDHHC13 and ZDHHC17 498 499 QP->AA: Abolishes interaction with ZDHHC17 498 498 Q->A: Inhibits interaction with ZDHHC13 and ZDHHC17 499 499 P->A: Inhibits interaction with ZDHHC13 and ZDHHC17 | N | |
10 | Q6NUP7 | Serine/threonine-protein phosphatase 4 regulatory subunit 4 | 873 | 501 501 R->W: Abolishes interaction with PPP4C 618 618 V->A: Diminishes interaction with PPP4C 618 618 V->D: Abolishes interaction with PPP4C | N | |
11 | O14980 | Exportin-1 | 1071 | 191 191 S->A: Does not abolish Rex-mediated mRNA export 284 284 V->E: Does not abolish Rex-mediated mRNA export 334 334 D->G: Does not abolish Rex-mediated mRNA export 337 337 I->L: Does not abolish Rex-mediated mRNA export 346 346 T->A: Does not abolish Rex-mediated mRNA export 402 402 V->I: Does not abolish Rex-mediated mRNA export 411 411 P->T: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export when associated with S-414 when associated with S-414 412 412 M->V: Does not abolish interaction with Rex and RANBP3, and Rex-mediated mRNA export 414 414 F->S: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export when associated with T-411 when associated with T-411 428 447 EEVLVVENDQGEVVREFMKD->QQVLVVQNNQGQVVRQFMKN: Abolishes Ran binding activity in absence of cargo and abolishes partially Ran binding activity in presence of cargo 430 446 VLVVENDQGEVVREFMK->DEDEENDQGEDEEEDDD: Partially restores Ran binding activity in presence of cargo 430 433 VLVV->DEDE: Abolishes Ran binding activity both in absence or presence of cargo 454 454 Y->A: Does not abolish Ran binding activity and nuclear export complex formation 474 474 R->I: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export 481 481 H->Q: Strongly abolishes interaction with Rex and RANBP3, abolishes Rex-mediated mRNA export 513 513 E->A: Abolishes Ran binding activity and nuclear export complex formation when associated with A-553 and A-554 525 525 L->A: Enhances Ran binding activity and does not abolish nuclear export complex formation when associated with A-561 when associated with A-568 and A-572 550 550 Q->A: Enhances Ran binding activity and does not abolish nuclear export complex formation when associated with A-553 and A-590 553 553 R->A: Enhances Ran binding activity and does not abolish nuclear export complex formation when associated with A-550 and A-590 when associated with A-513 and A-554 554 554 F->A: Partially abolishes Ran binding activity and does not abolish nuclear export complex formation when associated with A-561 when associated with A-553 and A-513 561 561 F->A: Abolishes Ran binding activity and nuclear export complex formation when associated with A-554 when associated with A-525 568 568 K->A: Does not abolish Ran binding activity and partially abolish nuclear export complex formation when associated with A-525 and A-572 572 572 F->A: Does not abolish Ran binding activity and partially abolish nuclear export complex formation when associated with A-525 and A-568 583 583 M->A: Enhances Ran binding activity when associated with A-590 590 590 K->A: Enhances Ran binding activity and does not abolish nuclear export complex formation when associated with A-583 when associated with A-550 and A-553 | Y | |
12 | P78527 | DNA-dependent protein kinase catalytic subunit | 4128 | 1510 1510 L->P: Loss of interaction with C1D 1516 1517 EL->PD: Loss of interaction with C1D 2609 2609 T->A: Leads to radiation sensitivity and impaired DSB joining when associated with A-2612 2612 2612 S->A: Reduced phosphorylation when associated with A-2609 2638 2638 T->A: Alleviates phosphorylation, leaves a fully active enzyme with compromised cellular resistance to ionizing radiation without affecting DNA end joining when associated with A-2647 2647 2647 T->A: Alleviates phosphorylation, leaves a fully active enzyme with compromised cellular resistance to ionizing radiation without affecting DNA end joining when associated with A-2638 | N | |
13 | Q92797 | Symplekin | 1274 | 185 185 K->A: Abolishes stimulation of SSU72 phosphatase activity | Y | |
14 | Q14997 | Proteasome activator complex subunit 4 | 1843 | 1716 1717 NF->TS: Abolihes binding to acetylated histones | Y | |
15 | Q08AM6 | Protein VAC14 homolog | 782 | 773 773 G->A: Reduces interaction with NOS1 774 774 D->A: Reduces interaction with NOS1 776 776 L->A: Reduces interaction with NOS1 777 777 D->A: Abolishes interaction with NOS1 780 782 VVL->AAA: Reduces interaction with NOS1 782 782 L->G: Reduces interaction with NOS1 | N | |
16 | O75533 | Splicing factor 3B subunit 1 | 1304 | 200 200 W->A: Abolishes interaction with RBM39 when associated with A-218 A-232 A-254 A-293 A-310 and A-338 218 218 W->A: Abolishes interaction with RBM39 when associated with A-200 A-232 A-254 A-293 A-310 and A-338 223 223 T->A: No effect on interaction with PPP1R8 227 227 T->A: No effect on interaction with PPP1R8 232 232 W->A: Abolishes interaction with RBM39 when associated with A-200 A-218 A-254 A-293 A-310 and A-338 235 235 T->A: No effect on interaction with PPP1R8 244 244 T->A: Slight inhibition of interaction with PPP1R8 248 248 T->A: Slight inhibition of interaction with PPP1R8 254 254 W->A: Abolishes interaction with RBM39 when associated with A-200 A-218 A-232 A-293 A-310 and A-338 257 257 T->A: No effect on interaction with PPP1R8 261 261 T->A: Slight inhibition of interaction with PPP1R8 267 267 T->A: No effect on interaction with PPP1R8 273 273 T->A: No effect on interaction with PPP1R8 278 278 T->A: No effect on interaction with PPP1R8 293 293 W->A: Abolishes interaction with RBM39 when associated with A-200 A-218 A-232 A-254 A-310 and A-338 296 296 T->A: No effect on interaction with PPP1R8 303 303 T->A: No effect on interaction with PPP1R8 310 310 W->A: Abolishes interaction with RBM39 when associated with A-200 A-218 A-232 A-254 A-293 and A-338 313 313 T->A: No effect on interaction with PPP1R8 338 338 W->A: Abolishes interaction with RBM39 when associated with A-200 A-218 A-232 A-254 A-293 and A-310 700 700 K->E: Does not affect the stability of the SF3B complex interaction with U2AF65 | Y | |
17 | Q9Y678 | Coatomer subunit gamma-1 | 874 | 776 776 W->S: Loss of interaction with ZNF289/ARFGAP2 | N | |
18 | O43432 | Eukaryotic translation initiation factor 4 gamma 3 | 1585 | 756 756 R->D: Reduces binding to EIF4A when associated with D-759 and D-764 759 759 R->D: Reduces binding to EIF4A when associated with D-756 and D-764 764 764 K->D: Reduces binding to EIF4A when associated with D-756 and D-759 814 814 R->D: Reduces binding to EIF4A when associated with D-820 820 820 K->D: Reduces binding to EIF4A when associated with D-814 834 835 RK->DD: Reduces binding to IRES | Y | |
19 | Q8WYA6 | Beta-catenin-like protein 1 | 563 | 16 33 Missing: Nuclear and cytoplasmic localization 521 563 Missing: No change in NLS binding nor folding | N | |
20 | Q13535 | Serine/threonine-protein kinase ATR | 2644 | 2327 2327 K->R: Abolishes kinase activity 2475 2475 D->A: Abolishes kinase activity increases sensitivity to IR and impairs translocation to nuclear foci upon DNA damage 2494 2494 D->E: Abolishes kinase activity reduces cell viability, augments sensitivity to IR and UV | N | |
21 | Q96T76 | MMS19 nucleotide excision repair protein homolog | 1030 | 993 993 K->R: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-1002, 1007-R-R-1008 and R-1013 1002 1002 K->R: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-993, 1007-R-R-1008 and R-1013 1007 1008 KK->RR: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-993, R-1002 and R-1013 1013 1013 K->R: Impairs MAGEF1-NSMCE1-mediated polyubiquitination when associated with R-993, R-1002 and 1007-R-R-1008 | Y | |
22 | Q96Q15 | Serine/threonine-protein kinase SMG1 | 3661 | 2335 2335 D->A: Loss of function | N | |
23 | Q9BU89 | Deoxyhypusine hydroxylase | 302 | 56 56 H->A: Loss of deoxyhypusine monooxygenase activity 57 57 E->A: Loss of deoxyhypusine monooxygenase activity 86 86 M->A: Loss of iron-binding 86 86 M->L: No effect on iron-binding when associated with L-237 89 89 H->A: Loss of deoxyhypusine monooxygenase activity 90 90 E->A: Loss of deoxyhypusine monooxygenase activity 207 207 H->A: Loss of deoxyhypusine monooxygenase activity 208 208 E->A: Loss of deoxyhypusine monooxygenase activity 237 237 M->L: Decreased iron-binding when associated with L-86 240 240 H->A: Loss of deoxyhypusine monooxygenase activity 241 241 E->A: Loss of deoxyhypusine monooxygenase activity | Y |