Q9ZV43
SS
Gene name |
CHR8 |
Protein name |
Protein CHROMATIN REMODELING 8 |
Names |
AtCHR8, AtCSB |
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
ath:AT2G18760 |
EC number |
|
Protein Class |
|
Descriptions
Rhp26 is a model protein related to CSB/ERCC6 (Cockayne syndrome B protein/excision repair cross complementation group 6) proteins with key roles in gene expression and DNA repair system. The leucine latch motif at the N-terminus of Rhp26 is responsible for the autoinhibition of the ATPase and chromatin-remodelling activity through its interactions with lobe 2 of the core ATPase domain. The disruption of the leucine latch motif or deletion of the N terminus eliminates the autoinhibition of ATPase and remarkably enhances the chromatin remodelling activity resulting in a hyperactive Rhp26.
Autoinhibitory domains (AIDs)
Target domain |
381-611 (ATPase domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9ZV43
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9ZV43-F1 | Predicted | AlphaFoldDB |
112 variants for Q9ZV43
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_2_8129176_T_C | 8 | F>S | No | 1000Genomes | |
| tmp_2_8129356_C_T | 31 | A>V | No | 1000Genomes | |
| ENSVATH01839546 | 36 | D>E | No | 1000Genomes | |
| ENSVATH13268053 | 41 | G>R | No | 1000Genomes | |
| tmp_2_8129418_G_A | 52 | G>R | No | 1000Genomes | |
| tmp_2_8129452_T_C | 63 | L>P | No | 1000Genomes | |
| ENSVATH05527611 | 97 | D>H | No | 1000Genomes | |
| ENSVATH14517301 | 127 | I>L | No | 1000Genomes | |
| ENSVATH13268076 | 151 | L>R | No | 1000Genomes | |
| tmp_2_8129718_C_G | 152 | R>G | No | 1000Genomes | |
| ENSVATH05527615 | 168 | I>T | No | 1000Genomes | |
| ENSVATH05527616 | 169 | R>G | No | 1000Genomes | |
| ENSVATH14517302 | 177 | K>E | No | 1000Genomes | |
| ENSVATH01839549 | 190 | F>L | No | 1000Genomes | |
| tmp_2_8129837_T_A | 191 | D>E | No | 1000Genomes | |
| ENSVATH05527617 | 194 | F>L | No | 1000Genomes | |
| ENSVATH13268077 | 195 | D>Y | No | 1000Genomes | |
| ENSVATH01839550 | 196 | G>A | No | 1000Genomes | |
| ENSVATH00237349 | 199 | A>V | No | 1000Genomes | |
| tmp_2_8129868_G_A | 202 | V>I | No | 1000Genomes | |
| ENSVATH01839552 | 215 | L>F | No | 1000Genomes | |
| tmp_2_8130058_G_A | 222 | D>N | No | 1000Genomes | |
| tmp_2_8130073_C_G | 227 | R>G | No | 1000Genomes | |
| ENSVATH13268078 | 237 | R>C | No | 1000Genomes | |
| ENSVATH13268080 | 244 | D>E | No | 1000Genomes | |
| ENSVATH13268079 | 244 | D>G | No | 1000Genomes | |
| tmp_2_8130127_G_A | 245 | E>K | No | 1000Genomes | |
| ENSVATH13268081 | 248 | D>E | No | 1000Genomes | |
| ENSVATH01839553 | 251 | I>S | No | 1000Genomes | |
| tmp_2_8130171_G_T | 259 | M>I | No | 1000Genomes | |
| ENSVATH14517304 | 260 | S>L | No | 1000Genomes | |
| ENSVATH00237351 | 265 | A>G | No | 1000Genomes | |
| ENSVATH05527625 | 267 | P>S | No | 1000Genomes | |
| tmp_2_8130197_C_T,A | 268 | T>I | No | 1000Genomes | |
| tmp_2_8130197_C_T,A | 268 | T>K | No | 1000Genomes | |
| tmp_2_8130205_C_A | 271 | L>I | No | 1000Genomes | |
| tmp_2_8130214_G_A | 274 | A>T | No | 1000Genomes | |
| ENSVATH05527626 | 274 | A>V | No | 1000Genomes | |
| tmp_2_8130227_C_G | 278 | P>R | No | 1000Genomes | |
| ENSVATH01839554 | 298 | N>D | No | 1000Genomes | |
| tmp_2_8130296_A_G | 301 | D>G | No | 1000Genomes | |
| ENSVATH05527628 | 307 | R>S | No | 1000Genomes | |
| ENSVATH13268082 | 313 | S>N | No | 1000Genomes | |
| ENSVATH05527629 | 316 | T>K | No | 1000Genomes | |
| ENSVATH13268083 | 317 | R>W | No | 1000Genomes | |
| tmp_2_8130347_C_T | 318 | P>L | No | 1000Genomes | |
| tmp_2_8130349_T_A | 319 | L>M | No | 1000Genomes | |
| tmp_2_8130353_C_T | 320 | P>L | No | 1000Genomes | |
| ENSVATH05527631 | 327 | R>L | No | 1000Genomes | |
| ENSVATH05527632 | 337 | G>E | No | 1000Genomes | |
| ENSVATH05527643 | 346 | T>I | No | 1000Genomes | |
| tmp_2_8130746_T_A | 358 | F>Y | No | 1000Genomes | |
| ENSVATH05527644 | 359 | D>Y | No | 1000Genomes | |
| ENSVATH13268097 | 365 | E>K | No | 1000Genomes | |
| ENSVATH14517316 | 432 | M>I | No | 1000Genomes | |
| tmp_2_8131003_C_G | 444 | L>V | No | 1000Genomes | |
| ENSVATH05527647 | 446 | R>H | No | 1000Genomes | |
| ENSVATH00237355 | 458 | D>E | No | 1000Genomes | |
| ENSVATH13268099 | 458 | D>Y | No | 1000Genomes | |
| ENSVATH01839558 | 471 | S>C | No | 1000Genomes | |
| tmp_2_8131093_G_A | 474 | G>S | No | 1000Genomes | |
| ENSVATH05527650 | 479 | K>N | No | 1000Genomes | |
| tmp_2_8131118_A_G | 482 | E>G | No | 1000Genomes | |
| ENSVATH13268100 | 483 | S>N | No | 1000Genomes | |
| ENSVATH05527651 | 488 | E>A | No | 1000Genomes | |
| tmp_2_8131139_G_A | 489 | S>N | No | 1000Genomes | |
| ENSVATH05527653 | 507 | S>F | No | 1000Genomes | |
| ENSVATH05527654 | 509 | L>I | No | 1000Genomes | |
| tmp_2_8131321_A_G | 550 | I>V | No | 1000Genomes | |
| ENSVATH00237358 | 570 | I>V | No | 1000Genomes | |
| ENSVATH13268101 | 612 | V>M | No | 1000Genomes | |
| ENSVATH13268102 | 616 | A>S | No | 1000Genomes | |
| tmp_2_8131549_G_T | 626 | A>S | No | 1000Genomes | |
| tmp_2_8131681_C_T | 643 | R>C | No | 1000Genomes | |
| ENSVATH13268104 | 643 | R>H | No | 1000Genomes | |
| ENSVATH13268115 | 657 | T>I | No | 1000Genomes | |
| ENSVATH05527671 | 671 | S>A | No | 1000Genomes | |
| tmp_2_8131813_G_T | 687 | D>Y | No | 1000Genomes | |
| tmp_2_8131899_C_G | 715 | H>Q | No | 1000Genomes | |
| ENSVATH13268116 | 722 | N>Y | No | 1000Genomes | |
| ENSVATH14517318 | 776 | L>H | No | 1000Genomes | |
| ENSVATH01839560 | 795 | M>V | No | 1000Genomes | |
| tmp_2_8132507_T_A | 888 | D>E | No | 1000Genomes | |
| ENSVATH13268120 | 902 | N>K | No | 1000Genomes | |
| ENSVATH05527686 | 903 | A>T | No | 1000Genomes | |
| ENSVATH05527688 | 915 | A>G | No | 1000Genomes | |
| ENSVATH05527690 | 923 | V>A | No | 1000Genomes | |
| tmp_2_8132617_C_T | 925 | S>L | No | 1000Genomes | |
| ENSVATH05527691 | 932 | D>A | No | 1000Genomes | |
| ENSVATH14517319 | 937 | L>R | No | 1000Genomes | |
| tmp_2_8132662_C_T | 940 | T>I | No | 1000Genomes | |
| ENSVATH05527692 | 946 | E>D | No | 1000Genomes | |
| tmp_2_8132688_G_A | 949 | D>N | No | 1000Genomes | |
| ENSVATH00237363 | 952 | M>T | No | 1000Genomes | |
| ENSVATH05527693 | 956 | T>A | No | 1000Genomes | |
| ENSVATH05527699 | 983 | D>E | No | 1000Genomes | |
| tmp_2_8132888_G_A | 984 | A>T | No | 1000Genomes | |
| ENSVATH05527701 | 993 | E>G | No | 1000Genomes | |
| ENSVATH05527702 | 1013 | R>C | No | 1000Genomes | |
| tmp_2_8132980_A_T | 1014 | Q>H | No | 1000Genomes | |
| tmp_2_8132993_C_T | 1019 | R>C | No | 1000Genomes | |
| ENSVATH05527704 | 1043 | R>Q | No | 1000Genomes | |
| tmp_2_8133095_C_T | 1053 | R>W | No | 1000Genomes | |
| ENSVATH13268126 | 1057 | T>N | No | 1000Genomes | |
| tmp_2_8133123_C_T | 1062 | S>L | No | 1000Genomes | |
| tmp_2_8133129_T_G | 1064 | I>S | No | 1000Genomes | |
| tmp_2_8133176_T_A | 1080 | S>T | No | 1000Genomes | |
| tmp_2_8133238_G_C | 1100 | E>D | No | 1000Genomes | |
| ENSVATH00237366 | 1132 | V>I | No | 1000Genomes | |
| tmp_2_8133343_A_T | 1135 | K>N | No | 1000Genomes | |
| ENSVATH13268127 | 1175 | N>Y | No | 1000Genomes | |
| ENSVATH05527708 | 1176 | R>S | No | 1000Genomes |
1 associated diseases with Q9ZV43
[MIM: 616532]: Encephalopathy, acute, infection-induced, 7, herpes-specific (IIAE7)
A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. {ECO:0000269|PubMed:26216125}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. {ECO:0000269|PubMed:26216125}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent activity, acting on DNA | Catalytic activity that acts to modify DNA, driven by ATP hydrolysis. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| hydrolase activity | Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| response to gamma radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| transcription-coupled nucleotide-excision repair | The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40352 | RAD26 | DNA repair and recombination protein RAD26 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| A3KMX0 | ERCC6L2 | DNA excision repair protein ERCC-6-like 2 | Bos taurus (Bovine) | PR |
| Q2NKX8 | ERCC6L | DNA excision repair protein ERCC-6-like | Homo sapiens (Human) | PR |
| Q03468 | ERCC6 | DNA excision repair protein ERCC-6 | Homo sapiens (Human) | EV |
| F8VPZ5 | Ercc6 | DNA excision repair protein ERCC-6 | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEDEDQFLL | SSLGVTSANP | EDLEQKILDE | ATKKPDNDEG | GSVEEKSTQL | EGTNLLSSSQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NELLNKLRAV | KFEIDAVAST | VENVDEIAAE | KGLKKDDESD | LQGLHSGSAL | QHALATDRLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLKKRKIQLE | KELTGLHGQS | ASSSADHGNL | LRDLVKEKPS | LKRKLKEIRK | PSRRDGKKVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVSFREDTDF | DAVFDGASAG | FVETERDELV | RKGILTPFHK | LDGFERRLQQ | PGPSNSRNLP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EGDDENEDSS | IIDRAVQSMS | LAAKARPTTK | LLDAEDLPKL | EPPTAPFRRL | RKLYKTPNSP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DNEAKKRKAG | KKSKKTRPLP | EKKWRKRISR | EDSSLQGSGD | GRRILTTSSC | EEEELDDFDD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADDNERSSVQ | LEGGLNIPEC | IFRKLFDYQR | VGVQWLWELH | CQRAGGIIGD | EMGLGKTIQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSFLGSLHFS | KMYKPSIIIC | PVTLLRQWRR | EAQKWYPDFH | VEILHDSAQD | SGHGKGQGKA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SESDYDSESS | VDSDHEPKSK | NTKKWDSLLN | RVLNSESGLL | ITTYEQLRLQ | GEKLLNIEWG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YAVLDEGHRI | RNPNSDITLV | CKQLQTVHRI | IMTGAPIQNK | LTELWSLFDF | VFPGKLGVLP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VFEAEFSVPI | TVGGYANASP | LQVSTAYRCA | VVLRDLIMPY | LLRRMKADVN | AHLTKKTEHV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LFCSLTVEQR | STYRAFLASS | EVEQIFDGNR | NSLYGIDVMR | KICNHPDLLE | REHSHQNPDY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GNPERSGKMK | VVAEVLKVWK | QQGHRVLLFS | QTQQMLDILE | SFLVANEYSY | RRMDGLTPVK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QRMALIDEFN | NSEDMFVFVL | TTKVGGLGTN | LTGANRVIIF | DPDWNPSNDM | QARERAWRIG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QKKDVTVYRL | ITRGTIEEKV | YHRQIYKHFL | TNKILKNPQQ | RRFFKARDMK | DLFILKDDGD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SNASTETSNI | FSQLAEEINI | VGVQSDKKPE | SDTQLALHKT | AEGSSEQTDV | EMTDKTGEAM |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DEETNILKSL | FDAHGIHSAV | NHDAIMNAND | EEEKMRLEHQ | ASQVAQRAAE | ALRQSRMLRS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| RESISVPTWT | GRSGCAGAPS | SVRRRFGSTV | NSRLTQTGDK | PSAIKNGISA | GLSSGKAPSS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AELLNRIRGS | REQAIGVGLE | QPQSSFPSSS | GSSSRVGSLQ | PEVLIRKICS | FVQQKGGSAD |
| 1150 | 1160 | 1170 | 1180 | ||
| TTSIVNHFRD | IVSFNDKQLF | KNLLKEIATL | EKDQNRSFWV | LKSEYKD |