F8VPZ5
SS
Gene name |
Ercc6 (Csb) |
Protein name |
DNA excision repair protein ERCC-6 |
Names |
EC 3.6.4.- , ATP-dependent helicase ERCC6 , Cockayne syndrome protein CSB |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:319955 |
EC number |
3.6.4.-: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
CSB is implicated in the repair of DNA lesions that induce replication stress. It possesses an intrinsic ATP-dependent fork reversal activity, activated upon removal of its N-terminal region, which autoinhibits CSB’s ATPase domain. This activity supports CSB's role in regulating slowdown in fork progression upon exposure to replication stress and in fork reversal <i>in vivo</i>.
Autoinhibitory domains (AIDs)
Target domain |
451-1005 (ATPase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for F8VPZ5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-F8VPZ5-F1 | Predicted | AlphaFoldDB |
79 variants for F8VPZ5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3550824018 | 10 | T>S | No | EVA | |
| rs3550989458 | 14 | E>D | No | EVA | |
| rs242912360 | 42 | G>R | No | EVA | |
| rs3389325048 | 62 | V>M | No | EVA | |
| rs3405022660 | 91 | E>Q | No | EVA | |
| rs3389333687 | 175 | K>R | No | EVA | |
| rs3389301347 | 178 | K>E | No | EVA | |
| rs864302246 | 185 | L>Q | No | EVA | |
| rs228850098 | 236 | A>T | No | EVA | |
| rs3389317454 | 253 | A>S | No | EVA | |
| rs3389272168 | 269 | A>V | No | EVA | |
| rs248854089 | 291 | A>V | No | EVA | |
| rs50305783 | 300 | I>V | No | EVA | |
| rs235944214 | 303 | S>T | No | EVA | |
| rs49636894 | 310 | I>N | No | EVA | |
| rs49864133 | 320 | V>L | No | EVA | |
| rs222323561 | 329 | K>M | No | EVA | |
| rs237367279 | 349 | P>L | No | EVA | |
| rs3389333705 | 355 | L>W | No | EVA | |
| rs864277243 | 364 | E>G | No | EVA | |
| rs255549360 | 376 | P>S | No | EVA | |
| rs239100884 | 406 | L>I | No | EVA | |
| rs50197684 | 409 | R>K | No | EVA | |
| rs3405022625 | 429 | S>A | No | EVA | |
| rs3389301346 | 430 | E>D | No | EVA | |
| rs3389242749 | 434 | E>K | No | EVA | |
| rs3550917959 | 438 | G>R | No | EVA | |
| rs864259836 | 573 | V>E | No | EVA | |
| rs51294937 | 600 | T>A | No | EVA | |
| rs47185936 | 612 | Y>C | No | EVA | |
| rs3389320421 | 689 | F>S | No | EVA | |
| rs3404931908 | 812 | P>R | No | EVA | |
| rs3404926832 | 813 | K>Q | No | EVA | |
| rs3389314056 | 874 | H>L | No | EVA | |
| rs3550778713 | 892 | P>L | No | EVA | |
| rs3389313775 | 921 | G>S | No | EVA | |
| rs3389289569 | 925 | V>F | No | EVA | |
| rs3389289569 | 925 | V>I | No | EVA | |
| rs3389313753 | 926 | I>F | No | EVA | |
| rs3389320471 | 937 | D>H | No | EVA | |
| rs3389333701 | 951 | K>N | No | EVA | |
| rs3389289564 | 988 | Q>* | No | EVA | |
| rs46738531 | 1031 | Q>H | No | EVA | |
| rs3389313748 | 1053 | D>E | No | EVA | |
| rs251889972 | 1082 | G>S | No | EVA | |
| rs48862720 | 1083 | P>A | No | EVA | |
| rs51861176 | 1088 | H>P | No | EVA | |
| rs263668226 | 1091 | N>D | No | EVA | |
| rs50223333 | 1093 | N>S | No | EVA | |
| rs3550840052 | 1101 | G>V | No | EVA | |
| rs255778616 | 1127 | T>A | No | EVA | |
| rs49381886 | 1128 | V>L | No | EVA | |
| rs3389281838 | 1135 | P>S | No | EVA | |
| rs221114696 | 1149 | A>T | No | EVA | |
| rs51355471 | 1152 | R>C | No | EVA | |
| rs3389281747 | 1153 | C>R | No | EVA | |
| rs248385846 | 1160 | V>G | No | EVA | |
| rs265936399 | 1161 | P>R | No | EVA | |
| rs50106981 | 1166 | M>T | No | EVA | |
| rs3389313828 | 1184 | E>* | No | EVA | |
| rs3389310346 | 1195 | Q>L | No | EVA | |
| rs50681756 | 1200 | S>Y | No | EVA | |
| rs242699299 | 1227 | S>G | No | EVA | |
| rs47500191 | 1238 | S>G | No | EVA | |
| rs3389320489 | 1256 | V>I | No | EVA | |
| rs3389314043 | 1297 | G>E | No | EVA | |
| rs3389317797 | 1318 | V>I | No | EVA | |
| rs3389313795 | 1319 | K>Q | No | EVA | |
| rs47482011 | 1327 | D>N | No | EVA | |
| rs3389310287 | 1329 | S>I | No | EVA | |
| rs244819228 | 1336 | S>* | No | EVA | |
| rs3389333678 | 1341 | K>N | No | EVA | |
| rs227910996 | 1341 | K>R | No | EVA | |
| rs237744324 | 1405 | V>L | No | EVA | |
| rs3389314030 | 1410 | T>S | No | EVA | |
| rs49784029 | 1436 | Q>R | No | EVA | |
| rs3389301281 | 1445 | K>N | No | EVA | |
| rs218006659 | 1448 | V>M | No | EVA | |
| rs3389317817 | 1452 | C>S | No | EVA |
No associated diseases with F8VPZ5
4 regional properties for F8VPZ5
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.- | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| B-WICH complex | A chromatin remodeling complex that positively regulates histone H3 acetylation, in particular H3K9, by recruiting histone acetyltransferases to rDNA gene regions. Located in the nucleolus where it assembles on RNA Polymerase I (Pol I) and possibly on RNA Polymerase III (Pol III) promoter and coding regions during early G1 phase and activates the post-initiation phases of Pol I transcription. May also activate RNA Polymerase II (Pol II) gene transcription. In mammals, B-WICH contains the WICH complex core of BAZ1B and SMARCA5, additional protein subunits and possibly rRNAs. Although it contains several catalytic subunits it is not clear which functions are carried out by the complex itself. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| transcription elongation factor complex | Any protein complex that interacts with RNA polymerase II to increase (positive transcription elongation factor) or reduce (negative transcription elongation factor) the rate of transcription elongation. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| ATP-dependent activity, acting on DNA | Catalytic activity that acts to modify DNA, driven by ATP hydrolysis. |
| ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA translocase activity | Generation of movement along a single- or double-stranded DNA molecule, driven by ATP hydrolysis. |
| helicase activity | Catalysis of the reaction |
| protein tyrosine kinase activator activity | Increases the activity of a protein tyrosine kinase, an enzyme which phosphorylates a tyrosyl phenolic group on a protein. |
35 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA damage response | 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 protection | Any process in which DNA is protected from damage by, for example, oxidative stress. |
| 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. |
| double-strand break repair via classical nonhomologous end joining | An instance of double-strand break repair via nonhomologous end joining that requires a number of factors important for V(D)J recombination, including the KU70/80 heterodimer (KU), XRCC4, ligase IV, and DNA-PKcs in mammals. It does not produce translocations (as opposed to the alternative nonhomologous end joining). |
| double-strand break repair via synthesis-dependent strand annealing | SDSA is a major mechanism of double-strand break repair in mitosis which allows for the error-free repair of a double-strand break without the exchange of adjacent sequences. The broken DNA searches for and base pairs with a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template. Newly synthesized DNA is then displaced from the template and anneal with its complement on the other side of the double-strand break. |
| intrinsic apoptotic signaling pathway in response to DNA damage | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| negative regulation of double-strand break repair via nonhomologous end joining | Any process that stops, prevents or reduces the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
| neurogenesis | Generation of cells within the nervous system. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| positive regulation of DNA-templated transcription, elongation | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase. |
| positive regulation of double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of transcription by RNA polymerase I | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription by RNA polymerase III | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase III. |
| positive regulation of transcription initiation by RNA polymerase II | Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter. |
| pyrimidine dimer repair | The repair of UV-induced T-T, C-T and C-C dimers. |
| reciprocal meiotic recombination | The cell cycle process in which double strand breaks are formed and repaired through a single or double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity. |
| regulation of transcription elongation by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| 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. |
| response to oxidative stress | 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to superoxide | 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 superoxide stimulus. Superoxide is the anion, oxygen-, formed by addition of one electron to dioxygen (O2) or any compound containing the superoxide anion. |
| response to toxic substance | 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 toxic stimulus. |
| response to UV | 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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| response to UV-B | 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 UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 280 to 315 nm. |
| response to X-ray | 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 X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
| single strand break repair | The repair of single strand breaks in DNA. Repair of such breaks is mediated by the same enzyme systems as are used in base excision repair. |
| transcription elongation by RNA polymerase I | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase I specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase I. |
| 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 |
| Q9ZV43 | CHR8 | Protein CHROMATIN REMODELING 8 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFHEEVPNST | HPQEQDCLPS | QHANAYKDMP | VGQENGGVSE | AGECLSSTSC | EYGPSTSAEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CVLAATRRGP | TLLHIDRHQI | PAVEPSAQAL | ELQGLGVDVY | DQAVLEQGVL | QQVDSAMHEA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SCVAQLADAE | KEYQSVLDDL | MSCTTSLRQI | NKIIEQLSPQ | AASNRDINRK | LDSVKRQKYN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KEQQLKKITA | KQKRLQAILG | GAGVQVELDH | ASLEEDDAEP | GPSCLGSMLM | PAQETAWEEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IRTGQMTPFG | TPAPQKQEKK | PRKIMLNEAS | GFEKYLAEQA | QLSFERKKQA | ATKRTAKKAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VISESSRAAI | ETKADQRSQV | LSQTDKRLKK | HSRKLQRRAL | QFQGKVGLPS | GKKPLEPEVR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PEAEGDTEGE | ESGSSPTDGE | EEEEQEEEEG | VASLSSDDVS | YELKPLRKRQ | KYQKKVPVQE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IDDDFFPSSE | EEDEAMEGRG | GGRKVARRQD | DGDEDYYKQR | LRRWNRLRLQ | DKEKRLKLED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DSEESDAEFD | EGFKVPGFLF | KKLFKYQQTG | VRWLWELHCQ | QAGGILGDEM | GLGKTIQIIA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FLAGLSYSKI | RTRGSNYRFE | GLGPTIIVCP | TTVMHQWVKE | FHTWWPPFRV | AVLHETGSYT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HKKERLIRDI | VYCHGVLITS | YSYIRLMQDD | ISRHDWHYVI | LDEGHKIRNP | NAAVTLACKQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FRTPHRIILS | GSPMQNNLRE | LWSLFDFIFP | GKLGTLPVFM | EQFSVPITMG | GYSNASPVQV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KTAYKCACVL | RDTINPYLLR | RMKSDVKMSL | SLPDKNEQVL | FCRLTDEQHK | VYQNFIDSKA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VYRILNGENQ | IFSGLVALRK | ICNHPDLFSG | GPKNASGPPE | DELEEEQFGH | WRRSGKMIVV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ESLLKIWHRQ | GQRVLLFSQS | RQMLHILEVF | LRAHKYSYLK | MDGTTTIASR | QPLITKYNED |
| 910 | 920 | 930 | 940 | 950 | 960 |
| TSIFVFLLTT | RVGGLGVNLT | GANRVIIYDP | DWNPSTDTQA | RERAWRIGQK | KQVTVYRLLT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| AGTIEEKIYH | RQIFKQFLTN | RVLKDPKQRR | FFKSNDLYEL | FTLTSPDASQ | GTETSAIFAG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TGSSIQTPKC | QLKKRTSTVL | GTDPKCKKPP | VSDTPANAAT | LIGEKPKAAG | ATGRSVTSGE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SGPFKGDHDT | NGNRASSVAF | GEETDAGSTL | EHLSVMSGDG | KHSDSPTVDH | TSRPPVEAST |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SEKQGSSYAG | ARCQAQTEPV | PMSEQMEGQF | SKYKSKRKHD | ASEEETTEKR | PQPKQKAKNS |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KHCRDAKFEG | TRVPHLVKKR | RYRQQTSEQE | GGAKDRSSDD | YVLEKLFKKS | VGVHSVVRHD |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| AIIDGSSPDY | VLVEAEANRV | AQDALKALRL | SRQQCLGAAS | GVPTWTGHRG | ISGAPTGVKN |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| RFGQKRDSSL | PVQHPSSLTE | KTQNNMKKEG | KAHTPEHFSG | KEDGASVSGA | PSSSSLLARM |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| RARNHMILPE | RLESDSEHLA | EAAAVPPCGT | EHDDLLVDMR | NFIAFQAQVD | GQASTQEILQ |
| 1450 | 1460 | 1470 | 1480 | ||
| EFESKLSVAQ | SCVFRELLRN | LCNFHRTPGG | EGIWKLKPEY | C |