Q6PGB8
SS
Gene name |
Smarca1 (Snf2l) |
Protein name |
Probable global transcription activator SNF2L1 |
Names |
EC 3.6.4.- , ATP-dependent helicase SMARCA1 , DNA-dependent ATPase SNF2L , Nucleosome-remodeling factor subunit SNF2L , SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:93761 |
EC number |
3.6.4.-: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
SMARCA5 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5, SNF2h) is a helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and a catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. <br>A highly conserved acidic patch formed by histones H2A and H2B of the nucleosome relieves the autoinhibition imposed by the AutoN and the NegC regions of the SMARCA5. In the autoinhibited state, AutoN and NegC hold the remodeler in an inactive state. The active state is promoted by AutoN and NegC binding near the acidic patch and by H4 tail binding to the ATPase domain. Thus, the acidic patch helps promote the translocation competent state of SMARCA5 by providing a binding site for NegC and AutoN.
Autoinhibitory domains (AIDs)
Target domain |
190-645 (Helicase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q6PGB8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6PGB8-F1 | Predicted | AlphaFoldDB |
59 variants for Q6PGB8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3410720763 | 5 | T>M | No | EVA | |
| rs211792054 | 21 | V>I | No | EVA | |
| rs30136000 | 48 | T>M | No | EVA | |
| rs3389507131 | 56 | K>N | No | EVA | |
| rs3389563006 | 86 | M>T | No | EVA | |
| rs246671664 | 89 | M>I | No | EVA | |
| rs3410720775 | 95 | R>H | No | EVA | |
| rs3389507150 | 97 | K>T | No | EVA | |
| rs3410102007 | 98 | R>S | No | EVA | |
| rs3389554404 | 99 | F>Y | No | EVA | |
| rs3389525112 | 104 | K>M | No | EVA | |
| rs3389537479 | 110 | A>V | No | EVA | |
| rs3410351374 | 118 | Q>K | No | EVA | |
| rs6290295 | 137 | D>E | No | EVA | |
| rs3410720821 | 140 | Q>H | No | EVA | |
| rs3410146830 | 140 | Q>L | No | EVA | |
| rs3410101965 | 141 | S>C | No | EVA | |
| rs3409991607 | 233 | R>* | No | EVA | |
| rs3410720776 | 259 | V>D | No | EVA | |
| rs3407960965 | 259 | V>I | No | EVA | |
| rs3389558608 | 332 | R>S | No | EVA | |
| rs3389525179 | 335 | K>R | No | EVA | |
| rs3389568605 | 347 | L>V | No | EVA | |
| rs3389551925 | 361 | L>* | No | EVA | |
| rs3389507139 | 401 | R>H | No | EVA | |
| rs3389537499 | 410 | S>N | No | EVA | |
| rs3389573246 | 440 | D>E | No | EVA | |
| rs3410094667 | 447 | K>N | No | EVA | |
| rs1132607362 | 458 | M>I | No | EVA | |
| rs3410094631 | 489 | S>LSRATILPLLPTMCSSVV* | No | EVA | |
| rs3389573277 | 514 | Q>H | No | EVA | |
| rs3410244959 | 516 | T>S | No | EVA | |
| rs3389559218 | 519 | L>* | No | EVA | |
| rs3389551365 | 520 | D>E | No | EVA | |
| rs3389507149 | 521 | I>N | No | EVA | |
| rs3389551314 | 523 | E>G | No | EVA | |
| rs3407960924 | 532 | E>D | No | EVA | |
| rs3389573240 | 533 | Y>* | No | EVA | |
| rs3408967118 | 534 | S>C | No | EVA | |
| rs3407960926 | 537 | D>V | No | EVA | |
| rs3410214462 | 670 | A>V | No | EVA | |
| rs245508573 | 671 | C>Y | No | EVA | |
| rs3410720754 | 674 | S>R | No | EVA | |
| rs3389559179 | 709 | N>K | No | EVA | |
| rs3409719600 | 748 | N>K | No | EVA | |
| rs3407959948 | 749 | Y>* | No | EVA | |
| rs3407959931 | 752 | D>H | No | EVA | |
| rs3410101774 | 757 | E>* | No | EVA | |
| rs3408967160 | 807 | V>I | No | EVA | |
| rs3408967154 | 808 | P>Q | No | EVA | |
| rs3408967086 | 808 | P>T | No | EVA | |
| rs3410718709 | 824 | Q>K | No | EVA | |
| rs3389558609 | 880 | E>G | No | EVA | |
| rs3410351355 | 903 | D>N | No | EVA | |
| rs3410144321 | 908 | M>I | No | EVA | |
| rs3389551370 | 960 | R>I | No | EVA | |
| rs3389514048 | 1001 | A>T | No | EVA | |
| rs3410469016 | 1002 | M>I | No | EVA | |
| rs3410101798 | 1040 | V>G | No | EVA |
No associated diseases with Q6PGB8
10 regional properties for Q6PGB8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SNF2, N-terminal | 190 - 469 | IPR000330 |
| domain | SANT/Myb domain | 848 - 897 | IPR001005-1 |
| domain | SANT/Myb domain | 950 - 1014 | IPR001005-2 |
| domain | Helicase, C-terminal domain-like | 491 - 645 | IPR001650 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 183 - 375 | IPR014001 |
| domain | ISWI, HAND domain | 750 - 848 | IPR015194 |
| domain | SLIDE domain | 905 - 1018 | IPR015195 |
| domain | SANT domain | 847 - 899 | IPR017884 |
| domain | SMARCA1, N-terminal | 172 - 404 | IPR044755 |
| domain | SNF2/RAD5-like, C-terminal helicase domain | 483 - 615 | IPR049730 |
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 | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATPase complex | A protein complex which is capable of ATPase activity. |
| CERF complex | An ISWI complex that contains an ATPase subunit of the ISWI family (specifically SNF2L in mammals, which contain two ISWI homologs) and a CECR2 homolog. In mammals, CERF is involved in regulation of transcription from RNA polymerase II promoters. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| NURF complex | An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2L in mammals), a NURF301 homolog (BPTF in humans), and additional subunits, though the composition of these additional subunits varies slightly with species. NURF is involved in regulation of transcription from TRNA polymerase II promoters. |
10 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. |
| ATP-dependent DNA/DNA annealing activity | An ATP-dependent activity that facilitates the formation of a complementary double-stranded DNA molecule. |
| 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). |
| helicase activity | Catalysis of the reaction |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| 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. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| nucleosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of one or more nucleosomes. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| 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. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of neural precursor cell proliferation | Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38144 | ISW1 | ISWI chromatin-remodeling complex ATPase ISW1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 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 |
| Q86WJ1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Homo sapiens (Human) | EV |
| Q9NRZ9 | HELLS | Lymphoid-specific helicase | Homo sapiens (Human) | PR |
| 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 |
| Q60848 | Hells | Lymphocyte-specific helicase | Mus musculus (Mouse) | PR |
| Q9CXF7 | Chd1l | Chromodomain-helicase-DNA-binding protein 1-like | Mus musculus (Mouse) | SS |
| P40201 | Chd1 | Chromodomain-helicase-DNA-binding protein 1 | Mus musculus (Mouse) | PR |
| Q91ZW3 | Smarca5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | 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 |
| Q22516 | chd-3 | Chromodomain-helicase-DNA-binding protein 3 homolog | Caenorhabditis elegans | PR |
| Q9XFH4 | DDM1 | ATP-dependent DNA helicase DDM1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWY3 | CHR11 | ISWI chromatin-remodeling complex ATPase CHR11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPDTATEAA | TVAVSDARAT | VVVVEDEQPG | PSTFKEEGAA | AAATEGTTAT | EKGEKKEKIT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPFQLKLAAK | ASKSEKEMDP | EYEEKMVNMP | LKADRAKRFE | FLLKQTELFA | HFIQPSAQKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PTSPLNMKLA | RPRVKKDDKQ | SLISVGDYRH | RRTEQEEDEE | LLSESRKTSN | VCVRFEVSPS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YVKGGPLRDY | QIRGLNWLIS | LYENGVNGIL | ADEMGLGKTL | QTIALLGYLK | HYRNIPGPHM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLVPKSTLHN | WMNEFKRWVP | SLRVICFVGD | KDVRAAFIRD | EMMPGEWDVC | VTSYEMVIKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSVFKKFHWR | YLVIDEAHRI | KNEKSKLSEI | VREFKSTNRL | LLTGTPLQNN | LHELWALLNF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLPDVFNSAD | DFDSWFDTKN | CLGDQKLVER | LHAVLKPFLL | RRIKTDVEKS | LPPKKEIKIY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LGLSKMQREW | YTKILMKDID | VLNSSGKMDK | MRLLNILMQL | RKCCNHPYLF | DGAEPGPPYT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TDEHIVGNSG | KMVALDKLLA | RIKEQGSRVL | IFSQMTRLLD | ILEDYCMWRG | YEYSRLDGQT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PHEEREEAID | AFNAPNSSKF | IFMLSTRAGG | LGINLASADV | VILYDSDWNP | QVDLQAMDRA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HRIGQKKPVR | VFRLITDNTV | EERIVERAEI | KLRLDSIVIQ | QGRLIDQQSN | KLAKEEMLQM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IRHGATHVFA | CKESELTDED | IVTILERGEK | KTAEMNERMQ | KMGESSLRNF | RMDLEQSLYK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FEGEDYREKQ | KLGTVEWIEP | PKRERKANYA | VDAYFREALR | VSEPKIPKAP | RPPKQPNVQD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FQFFPPRLFE | LLEKEILYYR | KTIGYKVPRN | PEIPNPAIAQ | REEQKKIDGA | EPLTPQETEE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KDKLLTQGFT | NWTKRDFNQF | IKANEKYGRD | DIDNIAREVE | GKSPEEVMEY | SAVFWERCNE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LQDIEKIMAQ | IERGEARIQR | RISIKKALDA | KIARYKAPFH | QLRIQYGTSK | GKNYTEEEDR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FLICMLHKMG | FDRENVYEEL | RQCVRNAPQF | RFDWFIKSRT | AMEFQRRCNT | LISLIEKENM |
| 1030 | 1040 | ||||
| EIEERERAEK | KKRATKTPMV | KFSAFS |