BACK HOME

Details of 22 HEAT Repeats and their Mutations

S.NOUniprot ID Protein Name Sequence LengthHEAT Repeats regionMutationsInvolvement of Repeats in Mutations
1 Q14008 Cytoskeleton-associated protein 5 20321939 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 25492159 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 27852744 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 1294106 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 28041003 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 898468 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 7422 6 GSENS->M: No Golgi targeting, accumulates in the cytoplasm
N
8 Q14974 Importin subunit beta-1 876178 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 3142495 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 4873501 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 1071191 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 41281510 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 Symplekin1274185 185 K->A: Abolishes stimulation of SSU72 phosphatase activity
Y
14 Q14997 Proteasome activator complex subunit 4 18431716 1717 NF->TS: Abolihes binding to acetylated histones
Y
15 Q08AM6 Protein VAC14 homolog 782773 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 1304200 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 874776 776 W->S: Loss of interaction with ZNF289/ARFGAP2
N
18 O43432 Eukaryotic translation initiation factor 4 gamma 3 1585756 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 56316 33 Missing: Nuclear and cytoplasmic localization
521 563 Missing: No change in NLS binding nor folding
N
20 Q13535 Serine/threonine-protein kinase ATR 26442327 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 1030993 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 36612335 2335 D->A: Loss of function
N
23 Q9BU89 Deoxyhypusine hydroxylase 30256 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