S.NO | Uniprot ID | Protein Name | Sequence Length | PAS Region | Mutation | Involvement of Repeats in Mutations |
1 | Q14190 | Single-minded homolog 2 | 667 | 367 367 R->A,G: Reduced nuclear translocation 368 368 K->A: No effect on nuclear translocation 369 369 L->A: No effect on nuclear translocation 370 370 V->A: No effect on nuclear translocation 371 371 K->A: No effect on nuclear translocation 372 372 P->A: No effect on nuclear translocation 373 373 K->A,G: Reduced nuclear translocation 375 375 T->A: No effect on nuclear translocation 376 376 K->A: No effect on nuclear translocation 377 377 M->A: No effect on nuclear translocation 378 378 K->G: No effect on nuclear translocation 379 379 T->A: No effect on nuclear translocation 380 380 K->A: No effect on nuclear translocation 381 381 L->A: No effect on nuclear translocation 382 382 R->A: No effect on nuclear translocation 383 383 T->A: No effect on nuclear translocation 385 385 P->A: Reduced nuclear translocation 386 386 Y->A: Reduced nuclear translocation | N | |
2 | Q96RG2 | PAS domain-containing serine/threonine-protein kinase | 1323 | 1028 1028 K->R: Loss of autophosphorylating activity 1058 1058 R->A: Induces lower protein kinase activity 1058 1058 R->K: Does not affect protein kinase activity 1151 1151 A->K: Induces lower protein kinase activity and ability to autophosphorylate 1152 1152 Y->F: Induces lower protein kinase activity 1161 1161 T->A: Loss of catalytic activity (PubMed:11459942) 1165 1165 T->A: Loss of catalytic activity | N | |
3 | Q9Y2N7 | Hypoxia-inducible factor 3-alpha | 669 | 467 467 K->R: No loss of ubiquitination when associated with R-570 492 492 P->A: Reduced hydroxylation activity 570 570 K->R: No loss of ubiquitination when associated with R-467 | N | |
4 | Q99814 | Endothelial PAS domain-containing protein 1 | 870 | 844 844 C->S: Abolishes hypoxia-inducible transcriptional activation of ctaD | N | |
5 | Q16665 | Hypoxia-inducible factor 1-alpha | 826 | 247 247 S->A: Constitutive kinase activity 247 247 S->D: Impaired kinase activity 377 377 K->R: No change in HIF1A protein turnover rate but increased transcriptional activity when associated with R-391 R-477 and R-532 389 389 K->R: No change in sumoylation 391 391 K->R: Abolishes 1 sumoylation when associated with R-532 when associated with R-477 when associated with R-377 R-477 and R-532 392 392 K->R: No change in sumoylation 394 394 P->A: No change in VHLE3-dependent ubiquitination 397 397 L->A: Abolishes VHLE3-dependent ubiquitination when associated with A-400 400 400 L->A: Abolishes VHLE3-dependent ubiquitination when associated with A-397 402 402 P->A: Abolishes in VHLE3-dependent ubiquitination, abolishes oxygen-dependent regulation of VP16, partially reduced VHLE target site ubiquitination and no interaction with VHL when associated with G-564 when associated with A-564 442 442 K->R: No change in sumoylation 460 460 K->R: No change in sumoylation nor in ARD1-mediated acetylation 477 477 K->R: Abolishes 1 sumoylation when associated with R-391 when associated with R-377 R-391 and R-532 532 532 K->R: Reduced ubiquitination when associated with R-377 R-391 and R-477 when associated with K-538 and K-547 538 538 K->R: No change in sumoylation, but reduced ubiquitination when associated with K-532 and K-547 547 547 K->R: No change in sumoylation, but reduced ubiquitination when associated with K-532 and K-538 551 551 S->G: Constitutive expression under nonhypoxic conditions by decreasing ubiquitination 552 552 T->A: Constitutive expression under nonhypoxic conditions by decreasing ubiquitination 564 564 P->A: Increases HIF1A instability and reduces HIF1A-induced target gene transcriptional activation when associated with A-402 564 564 P->G: No change in VHL-dependent ubiquitination when associated with A-402 576 576 S->A: Induces stabilization of the protein 657 657 S->A: Induces stabilization of the protein 709 709 K->R: Abolishes SIRT2-mediated deacetylation, increases HIF1A instability and reduces HIF1A-induced target gene transcriptional activation 719 719 K->T: Dramatic reduction of accumulation in the nucleus in response to hypoxia 795 795 L->A: Inhibits interaction with EP300 and transactivation activity 800 800 C->A: Blocks increase in transcriptional activation caused by nitrosylation 800 800 C->S: Abolishes hypoxia-inducible transcriptional activation of ctaD 803 803 N->A: Recruits CREBBP | Y | |
6 | O15055 | Period circadian protein homolog 2 | 1255 | 662 662 S->D: Restores CSNK1E-dependent phosphorylation of variant G-662 | N | |
7 | O15534 | Period circadian protein homolog 1 | 1290 | 121 126
121 126 TSGCSS->AAGCSA: Strongly decreases interaction with BTRC and FBXW11 and inhibits degradation promoted by CSNK1E 210 213 210 213 SEYT->AEYA: No effect on interaction with BTRC and FBXW11 714 726 714 726 SVVSVTSQCSFSS->AVVAVTAQCAFAA: No effect on interaction with BTRC and FBXW11 794 798 794 798 FLSRF->ALSRA: Strongly decreases interaction with BTRC and FBXW11 | Y | |
8 | P35869 | Aryl hydrocarbon receptor | 848 | 40 40 R->D: Decreases transcription factor activity 50 50 L->D: Interfers with transcription factor activity 74 74 V->D: Interfers with transcription factor activity 79 79 A->D: Interfers with transcription factor activity 82 82 F->D: Interfers with transcription factor activity 118 118 L->D: Interfers with transcription factor activity 122 122 L->D: Interfers with transcription factor activity 136 136 F->D: Interfers with transcription factor activity 154 154 I->D: Interfers with transcription factor activity 381 381 V->A: Increases specific ligand binding 381 381 V->D: Abolishes specific ligand binding 381 381 V->L,G: No effect on specific ligand binding | Y | |
9 | O15516 | Circadian locomoter output cycles protein kaput | 846 | 38 38 S->E: Phosphomimetic mutant with no effect on DNA binding or CLOCK-ARNTL/BMAL1 transcriptional activity 42 42 S->E: Phosphomimetic mutant with no effect on DNA binding or CLOCK-ARNTL/BMAL1 transcriptional activity 50 50 F->M: No effect on ARNTL/BMAL1 binding 84 84 H->L: Impaired ARNTL/BMAL1 binding 116 116 E->K: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1 when associated with K-367 and L-601 332 332 G->E: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1 when associated with L-840 360 360 H->Y: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1 367 367 E->K: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1 when associated with E-116 and L-601 451 451 T->F: Significant loss in phosphorylation 461 461 T->F: Significant loss in phosphorylation 601 601 V->L: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1 when associated with K-116 and K-367 840 840 P->L: 3-fold increase in PER1 reporter activity by CLOCK-ARNTL/BMAL1 when associated with E-332 | Y | |
10 | O00327 | Aryl hydrocarbon receptor nuclear translocator-like protein 1 | 626 | 9 9 S->A,E: Enhanced PER1 reporter activity by CLOCK-ARNTL/BMAL1 9 9 S->F: 2-2 10 10 S->A,E: Enhanced PER1 reporter activity by CLOCK-ARNTL/BMAL1 10 10 S->L: 2-2 78 78 S->E: Phosphomimetic mutant which severely impairs DNA binding and CLOCK-ARNTL/BMAL1 transcriptional activity 88 88 M->F: No effect on CLOCK binding 90 90 S->E: Phosphomimetic mutant with no effect on DNA binding or CLOCK-ARNTL/BMAL1 transcriptional activity 125 125 L->H: Impaired CLOCK binding 611 611 A->S,T: Increased desensitization to CRY1, in the presence of CLOCK when associated with E-407 612 612 G->E: Increased desensitization to CRY1, in the presence of CLOCK | N | |
11 | P27540 | Aryl hydrocarbon receptor nuclear translocator | 789 | 91 91 R->A: Diminishes DNA interaction 93 93 N->A: Diminishes DNA interaction 94 94 H->A: Severely diminishes DNA interaction 98 98 E->A: Severely diminishes DNA interaction 99 99 R->A: Diminishes DNA interaction 101 101 R->A: Severely diminishes DNA interaction 102 102 R->A: Severely diminishes DNA interaction | N | |