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The 11 PAS Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthPAS RegionMutationInvolvement of Repeats in Mutations
1 Q14190 Single-minded homolog 2 667367 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 13231028 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 669467 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 870844 844 C->S: Abolishes hypoxia-inducible transcriptional activation of ctaD
N
5 Q16665 Hypoxia-inducible factor 1-alpha 826247 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 1255662 662 S->D: Restores CSNK1E-dependent phosphorylation of variant G-662
N
7 O15534 Period circadian protein homolog 1 1290121 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 84840 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 84638 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 6269 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 78991 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