Q9CXF7
SS
Gene name |
Chd1l |
Protein name |
Chromodomain-helicase-DNA-binding protein 1-like |
Names |
EC 3.6.4.- |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:68058 |
EC number |
3.6.4.-: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
Oncogenic chromatin remodeler ALC1 (ALC1, also known as CHD1L) is an ATP-dependent chromatin remodeler that relaxes the chromatin and plays an important role in the poly(ADP-ribose) polymerase 1-mediated DNA repair pathway. The macro domain of ALC1 binds to lobe 2 of the ATPase motor, sequestering two elements for nucleosome recognition. Autoinhibition by macro domain interactions stabilizes the ATPase lobe, impacting DNA damage repair. The cancer-related mutations of several basic residues on the macro domain disrupt the autoinhibition of ALC1, compromising its function in cells. Upon DNA damage, the interaction between the macro domain and PAR chains in PARP1 can also release the autoinhibition of ALC1 and target the remodeler to the sites of DNA damage. Furthermore, the histone H4 tails of nucleosome and other nucleosomal epitopes often provide the combinational cues to target and regulate chromatin remodelers, leading to the activation of ALC1 in cells.
Autoinhibitory domains (AIDs)
Target domain |
342-507 (Lobe 2 of ATPase motor domain) |
Relief mechanism |
Ligand binding, Partner binding, Others |
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
1 structures for Q9CXF7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9CXF7-F1 | Predicted | AlphaFoldDB |
56 variants for Q9CXF7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs223253431 | 3 | S>G | No | EVA | |
| rs3388645553 | 10 | Q>* | No | EVA | |
| rs220927913 | 21 | L>V | No | EVA | |
| rs253304632 | 28 | P>Q | No | EVA | |
| rs37266316 | 39 | R>C | No | EVA | |
| rs3388640022 | 78 | L>F | No | EVA | |
| rs3388640022 | 78 | L>I | No | EVA | |
| rs3393311211 | 101 | L>F | No | EVA | |
| rs3388645494 | 103 | N>D | No | EVA | |
| rs248872625 | 108 | M>I | No | EVA | |
| rs3388649440 | 113 | P>L | No | EVA | |
| rs6308665 | 129 | R>H | No | EVA | |
| rs3388653262 | 138 | S>* | No | EVA | |
| rs3388654979 | 183 | T>I | No | EVA | |
| rs250379454 | 205 | R>Q | No | EVA | |
| rs3393438166 | 210 | L>I | No | EVA | |
| rs3393179108 | 212 | C>F | No | EVA | |
| rs38082983 | 213 | V>A | No | EVA | |
| rs3393497101 | 217 | D>Y | No | EVA | |
| rs3388648179 | 222 | E>* | No | EVA | |
| rs3388644015 | 269 | E>* | No | EVA | |
| rs3388651207 | 299 | T>A | No | EVA | |
| rs3388638374 | 321 | L>Q | No | EVA | |
| rs3388638310 | 327 | P>S | No | EVA | |
| rs3541603548 | 332 | V>A | No | EVA | |
| rs3388649470 | 495 | P>S | No | EVA | |
| rs36416186 | 502 | A>T | No | EVA | |
| rs3388655024 | 513 | K>R | No | EVA | |
| rs3388648135 | 515 | G>D | No | EVA | |
| rs3388648135 | 515 | G>V | No | EVA | |
| rs3388650371 | 531 | D>Y | No | EVA | |
| rs3388640047 | 539 | T>N | No | EVA | |
| rs36392286 | 551 | A>T | No | EVA | |
| rs3388639983 | 551 | A>V | No | EVA | |
| rs260820246 | 556 | G>A | No | EVA | |
| rs49508463 | 558 | G>E | No | EVA | |
| rs48353373 | 559 | S>N | No | EVA | |
| rs36906996 | 560 | L>Q | No | EVA | |
| rs30451249 | 562 | P>R | No | EVA | |
| rs3388633233 | 609 | E>D | No | EVA | |
| rs249806908 | 639 | I>V | No | EVA | |
| rs3388655003 | 652 | R>G | No | EVA | |
| rs3388638380 | 655 | A>V | No | EVA | |
| rs36412188 | 704 | G>D | No | EVA | |
| rs3388652092 | 805 | L>F | No | EVA | |
| rs3388651229 | 833 | F>Y | No | EVA | |
| rs3388649500 | 837 | K>* | No | EVA | |
| rs219778791 | 843 | V>I | No | EVA | |
| rs224140082 | 855 | F>Y | No | EVA | |
| rs3388650335 | 857 | W>* | No | EVA | |
| rs3388648141 | 868 | L>* | No | EVA | |
| rs256138154 | 870 | T>A | No | EVA | |
| rs3388652099 | 877 | I>L | No | EVA | |
| rs3388633272 | 882 | R>I | No | EVA | |
| rs214988773 | 883 | S>N | No | EVA | |
| rs6236687 | 898 | L>R | No | EVA |
No associated diseases with Q9CXF7
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 |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break 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. |
8 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 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. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| histone reader activity | A chromatin adaptor that recognizes specific forms of histones, either modified by a post-translational modification, or the unmodified form. Histone readers have roles in many processes, including in centromere function or in modulating the accessibility of cis-regulatory regions to the transcription machinery. |
| nucleosome binding | Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| nucleotide binding | Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose. |
| poly-ADP-D-ribose modification-dependent protein binding | Binding to a protein upon poly-ADP-ribosylation of the target protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 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 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. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3B7N1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Bos taurus (Bovine) | SS |
| Q24368 | Iswi | Chromatin-remodeling complex ATPase chain Iswi | Drosophila melanogaster (Fruit fly) | SS |
| O60264 | SMARCA5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | Homo sapiens (Human) | EV |
| P28370 | SMARCA1 | Probable global transcription activator SNF2L1 | Homo sapiens (Human) | SS |
| Q9NRZ9 | HELLS | Lymphoid-specific helicase | Homo sapiens (Human) | PR |
| Q86WJ1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Homo sapiens (Human) | EV |
| Q60848 | Hells | Lymphocyte-specific helicase | Mus musculus (Mouse) | PR |
| Q91ZW3 | Smarca5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | Mus musculus (Mouse) | SS |
| Q6PGB8 | Smarca1 | Probable global transcription activator SNF2L1 | Mus musculus (Mouse) | SS |
| Q7G8Y3 | Os01g0367900 | Probable chromatin-remodeling complex ATPase chain | Oryza sativa subsp japonica (Rice) | PR |
| P41877 | isw-1 | Chromatin-remodeling complex ATPase chain isw-1 | Caenorhabditis elegans | SS |
| Q8RWY3 | CHR11 | ISWI chromatin-remodeling complex ATPase CHR11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XFH4 | DDM1 | ATP-dependent DNA helicase DDM1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGLPRFLQ | ALPAEHGPEP | LRTRVQEPDL | QQWGLTGIRL | RSYQLEGVNW | LVQCFHCQNG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CILGDEMGLG | KTCQTIALLI | YLVGRLNDEG | PFLVLCPLSV | LSNWKEEMER | FAPGLSCVTY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TGDKEERARL | QQDLRQESGF | HVLLTTYEIC | LKDASFLKSF | SWSVLAVDEA | HRLKNQSSLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HRTLSEFSAV | FRLLLTGTPI | QNSLRELYSL | LCVVEPDLFC | REQVEDFVQR | YQDIEKESKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASELHRLLQP | FLLRRVKAQV | ATELPKKTEV | VVYHGMSALQ | KKYYKAILMK | DLDAFENETA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKVKLQNILT | QLRKCVDHPY | LFDGVEPEPF | EVGEHLIEAS | GKLHLLDRLL | AFLYSGGHRV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLFSQMTHML | DILQDYMDYR | GYSYERVDGS | VRGEERHLAI | KNFGNQPIFV | FLLSTRAGGV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GMNLTAADTV | IFVDSDFNPQ | NDLQAAARAH | RIGQNKSVKV | IRLIGRDTVE | EIVYRKAASK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQLTNMVIEG | GHFTPGAQKP | SAEADFQLSE | ILKFGLDKLL | SSEGSSMEDI | DLKSILGETK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DGQWTPDALP | AAAAAGGGSL | EPEEGSELES | RSYENHMYLF | EGRDYSKEPS | KEDRKSFEQL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VNLQKTLLEK | TSHGGRTLRN | KGSVLIPGLA | EGPIKRKKIL | SPEELEDRRK | KRQEAAAKRK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RLMEEKRKEK | EEAEHRKKMA | WWESNGYQSF | CLSSEDSELE | DLEGGDESSA | ELAYEDLDST |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SINYVSGDVT | HPQAGEEDAV | IVHCVDDSGR | WGRGGLFTAL | EVRSAEPRKI | YELAGKMEDL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SLGDVLLFPI | DDKESRDKGQ | DLLALVVAQH | RDRTNVLSGI | KMAALEEGLK | KIFLAAKKKK |
| 850 | 860 | 870 | 880 | 890 | |
| ASVHLPRIGH | ATKGFNWYGT | ERLIRKHLAT | RGIPTYIYYF | PRSKARHSQP | ASSSSAPLVP |