Q99JR8
PR
Gene name |
Smarcd2 (Baf60b) |
Protein name |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 |
Names |
60 kDa BRG-1/Brm-associated factor subunit B, BRG1-associated factor 60B, BAF60B |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:83796 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q99JR8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99JR8-F1 | Predicted | AlphaFoldDB |
14 variants for Q99JR8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs230952573 | 38 | P>S | No | EVA | |
| rs13468328 | 39 | S>N | No | EVA | |
| rs3389173395 | 93 | A>S | No | EVA | |
| rs3389220367 | 94 | G>S | No | EVA | |
| rs3389198422 | 149 | I>M | No | EVA | |
| rs3389146831 | 203 | S>I | No | EVA | |
| rs3389173367 | 290 | R>Q | No | EVA | |
| rs3402868438 | 385 | D>A | No | EVA | |
| rs3389198441 | 399 | D>E | No | EVA | |
| rs3389213206 | 418 | A>S | No | EVA | |
| rs3389208400 | 446 | S>F | No | EVA | |
| rs27010730 | 473 | R>H | No | EVA | |
| rs3403050671 | 485 | V>G | No | EVA | |
| rs3389214400 | 501 | P>L | No | EVA |
No associated diseases with Q99JR8
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| bBAF complex | A brain-specific SWI/SNF-type complex that contains eight or nine proteins, including both conserved (core) and nonconserved components; contains the ATPase product of either the SMARCA4/BAF190A/BRG1 gene, the mammalian ortholog of the yeast SNF2 gene, or the SMARCA2/BAF190B/BRM gene, the mammalian ortholog of the Drosophila brm (brahma) gene, or an ortholog of either of these genes. Compared to the neuron-specific nBAF complex (GO:0071565) it does not contain DPF1, DPF3 or SMARCC1 or their orthologs. May contain PB1/BAF180. |
| brahma complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the Drosophila brm (brahma) or mammalian SMARCA2/BAF190B/BRM gene, or an ortholog thereof. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| 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. |
| RSC-type complex | A SWI/SNF-type complex that contains a bromodomain containing-protein, such as yeast Rsc1 or Rsc4 or mammalian PB1/BAF180. The RSC complex is generally recruited to RNA polymerase III promoters and is specifically recruited to RNA polymerase II promoters by transcriptional activators and repressors; it is also involved in non-homologous end joining. |
| SWI/SNF complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
11 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. |
| nucleosome disassembly | The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| positive regulation of double-strand break repair | Any process that activates or increases the frequency, rate or extent of double-strand break repair. |
| positive regulation of myoblast differentiation | Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| regulation of G0 to G1 transition | A cell cycle process that modulates the rate or extent of the transition from the G0 quiescent state to the G1 phase. |
| regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| regulation of mitotic metaphase/anaphase transition | Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| regulation of nucleotide-excision repair | Any process that modulates the frequency, rate or extent of nucleotide-excision repair. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2TBN1 | SMARCD1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 | Bos taurus (Bovine) | PR |
| E1BJD1 | SMARCD2 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 | Bos taurus (Bovine) | PR |
| Q9VYG2 | Bap60 | Brahma-associated protein of 60 kDa | Drosophila melanogaster (Fruit fly) | PR |
| Q6STE5 | SMARCD3 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 | Homo sapiens (Human) | PR |
| Q96GM5 | SMARCD1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 | Homo sapiens (Human) | PR |
| Q92925 | SMARCD2 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 | Homo sapiens (Human) | PR |
| Q6P9Z1 | Smarcd3 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 | Mus musculus (Mouse) | PR |
| Q61466 | Smarcd1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 | Mus musculus (Mouse) | PR |
| O54772 | Smarcd2 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGRGAGGFP | LPPLSPGGGA | VAAALGAPPP | PAGPGMLPSP | ALRGPGPSGG | MGVPGAAAFR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PMGPAGPAAQ | YQRPGMSPGS | RMPMAGLQVG | PPAGSPFGTA | APLRPGMPPT | MMDPFRKRLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPQAQPPMPA | QRRGLKRRKM | ADKVLPQRIR | ELVPESQAYM | DLLAFERKLD | QTIARKRMEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QEAIKKPLTQ | KRKLRIYISN | TFSPSKADGD | NAGTAGTPGG | TPAADKVASW | ELRVEGKLLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPSKQKRKFS | SFFKSLVIEL | DKELYGPDNH | LVEWHRMPTT | QETDGFQVKR | PGDLNVKCTL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLMLDHQPPQ | YKLDPRLARL | LGVHTQTRAA | IMQALWLYIK | HNQLQDGHER | EYINCNRYFR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QIFSCGRLRF | SEIPMKLAGL | LQHPDPIVIN | HVISVDPNDQ | KKTACYDIDV | EVDDPLKAQM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SNFLASTTNQ | QEIASLDVKI | HETIESINQL | KTQRDFMLSF | STEPQDFIQE | WLRSQRRDLK |
| 490 | 500 | 510 | 520 | 530 | |
| IITDVIGNPE | EERRAAFYHQ | PWAQEAVGRH | IFAKVQQRRQ | ELEQVLGIRL | T |