| Tbio | AT-rich interactive domain-containing protein 1B |
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically.
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Comments
| Disease | Target Count |
|---|---|
| Liver carcinoma | 217 |
| Neuroblastoma | 78 |
| Nicolaides Baraitser syndrome | 2 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3099 | 6.70827536916944E-12 |
| pituitary cancer | 1972 | 9.55361528840898E-7 |
| ependymoma | 2514 | 9.65404484248402E-6 |
| ovarian cancer | 8492 | 2.95136195442197E-5 |
| medulloblastoma, large-cell | 6234 | 7.44060324985466E-5 |
| osteosarcoma | 7933 | 1.40977666563944E-4 |
| glioblastoma | 5572 | 1.6046317896083E-4 |
| pediatric high grade glioma | 2712 | 2.68201853441313E-4 |
| pilocytic astrocytoma | 3086 | 3.08389369840996E-4 |
| Pick disease | 1893 | 7.00685897468941E-4 |
| invasive ductal carcinoma | 2950 | 0.00443412045039557 |
| progressive supranuclear palsy | 674 | 0.00916094515077942 |
| group 3 medulloblastoma | 2254 | 0.0115335766578741 |
| spina bifida | 1064 | 0.0341669696973994 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 573 | 4.553 | 2.3 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Craniosynostosis | 47 | 4.79 | 2.4 |
| Acrocephalosyndactylia | 15 | 4.133 | 2.1 |
| Hypertrichosis | 23 | 4.055 | 2.0 |
| Borjeson-Forssman-Lehmann syndrome | 6 | 3.568 | 1.8 |
| Obstructive sleep apnea | 28 | 3.315 | 1.7 |
| LADD syndrome | 9 | 3.162 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | -1.676 | 0.000 |
| ependymoma | -1.200 | 0.000 |
| glioblastoma | -1.900 | 0.000 |
| medulloblastoma, large-cell | -1.200 | 0.000 |
| pediatric high grade glioma | -1.500 | 0.000 |
| group 3 medulloblastoma | 1.100 | 0.012 |
| pilocytic astrocytoma | -1.100 | 0.000 |
| spina bifida | -1.033 | 0.034 |
| Pick disease | 1.100 | 0.001 |
| progressive supranuclear palsy | 1.100 | 0.009 |
| Breast cancer | -1.300 | 0.000 |
| invasive ductal carcinoma | -1.100 | 0.004 |
| ovarian cancer | -1.400 | 0.000 |
| pituitary cancer | 1.100 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG Inparanoid |
| Macaque | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG |
| Horse | OMA Inparanoid |
| Cow | OMA EggNOG |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG |
| Xenopus | EggNOG Inparanoid |
| Zebrafish | OMA Inparanoid |
| C. elegans | OMA EggNOG Inparanoid |
| Fruitfly | EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26937011 | This study demonstrate that ARID1B is required for neuronal differentiation in the developing brain, such as in dendritic arborization and synapse formation. |
| 26716708 | ARID1B role in genome-wide transcriptional regulation by SWI/SNF complexes. |
| 26637798 | This study provide the evidence ARID1B mutation releate to Autism Spectrum Disorder. |
| 26395437 | Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. |
| 26376624 | De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature |
| 26340334 | Chromatin-Remodeling-Factor ARID1B Represses Wnt/beta-Catenin Signaling. |
| 26223912 | Results show the crystal structure and binding site of SWI1 protein and identify loop L1 and L2 regions of SWI1 ARID likely play key roles in ARID-DNA interactions. |
| 25817822 | ARID1B potentially serves as a valuable prognostic and predictive biomarker as well as a therapeutic target in breast cancer. |
| 25250687 | The most prominent and consistent clinical findings in patients with ARID1B haploinsufficiency are developmental delay, speech impairment and intellectual disability. |
| 25169814 | Phenotype of Coffin-Siris syndrome patients with ARID1B mutations |
| More... |
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLK 1 - 70 TVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSL 71 - 140 GGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGT 141 - 210 QQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSM 211 - 280 DPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAA 281 - 350 GGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLN 351 - 420 QLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAW 421 - 490 AAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPI 491 - 560 GIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQD 561 - 630 MSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQS 631 - 700 NPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQ 701 - 770 SPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNY 771 - 840 SRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGM 841 - 910 SQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQ 911 - 980 APPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYEL 981 - 1050 GNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGT 1051 - 1120 SSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSM 1121 - 1190 AEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRM 1191 - 1260 PYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYG 1261 - 1330 QQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSG 1331 - 1400 PDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGG 1401 - 1470 PTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRA 1471 - 1540 PSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQR 1541 - 1610 RKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLID 1611 - 1680 IFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSI 1681 - 1750 ALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTH 1751 - 1820 FESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKF 1821 - 1890 PFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVL 1891 - 1960 ILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTES 1961 - 2030 ICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYA 2031 - 2100 TLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQ 2101 - 2170 PPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL 2171 - 2236 //
| PMID | Year | Title |
|---|---|---|
| 26937011 | 2016 | Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons. |
| 26716708 | 2015 | Genome-Wide Transcriptional Regulation Mediated by Biochemically Distinct SWI/SNF Complexes. |
| 26637798 | 2015 | Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. |
| 26395437 | 2016 | Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. |
| 26376624 | 2015 | De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. |
| 26340334 | 2015 | Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling. |
| 26223912 | 2015 | Binding of human SWI1 ARID domain to DNA without sequence specificity: A molecular dynamics study. |
| 25817822 | 2015 | Clinicopathological significance of ARID1B in breast invasive ductal carcinoma. |
| 25250687 | 2014 | Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. |
| 25169814 | 2014 | The ARID1B phenotype: what we have learned so far. |
| More... |
