Details for: SMARCB1

Gene ID: 6598

Symbol: SMARCB1

Ensembl ID: ENSG00000099956

Description: SWI/SNF related BAF chromatin remodeling complex subunit B1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 260.4387
    Cell Significance Index: -40.5100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 141.6556
    Cell Significance Index: -35.9300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 119.7482
    Cell Significance Index: -49.3300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.3508
    Cell Significance Index: -47.8500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 98.9029
    Cell Significance Index: -40.1800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 90.4964
    Cell Significance Index: -46.5500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 71.3538
    Cell Significance Index: -47.8800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 42.4198
    Cell Significance Index: -40.5000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.7305
    Cell Significance Index: -46.5200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.9514
    Cell Significance Index: -34.7000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.0830
    Cell Significance Index: -47.6800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.5846
    Cell Significance Index: -32.5100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.3968
    Cell Significance Index: -14.0000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.8626
    Cell Significance Index: 30.8400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 3.7857
    Cell Significance Index: 79.2400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.4417
    Cell Significance Index: 238.0100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.2393
    Cell Significance Index: 41.4900
  • Cell Name: centroblast (CL0009112)
    Fold Change: 3.1204
    Cell Significance Index: 7.2800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 3.0918
    Cell Significance Index: 33.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.9874
    Cell Significance Index: 348.1500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.6509
    Cell Significance Index: 312.6200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.0282
    Cell Significance Index: 70.4800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.9750
    Cell Significance Index: 127.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.9483
    Cell Significance Index: 51.2300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.9362
    Cell Significance Index: 116.2400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.4168
    Cell Significance Index: 19.3300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.2548
    Cell Significance Index: 65.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.2298
    Cell Significance Index: 168.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.1287
    Cell Significance Index: 71.1400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.1084
    Cell Significance Index: 9.3100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8863
    Cell Significance Index: 177.8000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8783
    Cell Significance Index: 174.3000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8767
    Cell Significance Index: 478.8100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7340
    Cell Significance Index: 19.6000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7304
    Cell Significance Index: 21.4500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7181
    Cell Significance Index: 129.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7161
    Cell Significance Index: 33.3900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.7045
    Cell Significance Index: 5.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6770
    Cell Significance Index: 299.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6624
    Cell Significance Index: 31.1300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5938
    Cell Significance Index: 76.1200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5897
    Cell Significance Index: 76.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5769
    Cell Significance Index: 70.9400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5244
    Cell Significance Index: 188.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5214
    Cell Significance Index: 40.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5058
    Cell Significance Index: 37.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4982
    Cell Significance Index: 25.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4876
    Cell Significance Index: 34.4900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4869
    Cell Significance Index: 27.3200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4071
    Cell Significance Index: 11.0800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3668
    Cell Significance Index: 10.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3214
    Cell Significance Index: 9.2600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2953
    Cell Significance Index: 3.5200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2018
    Cell Significance Index: 10.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1732
    Cell Significance Index: 28.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1595
    Cell Significance Index: 30.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1080
    Cell Significance Index: 18.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0893
    Cell Significance Index: 4.6500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0620
    Cell Significance Index: 0.9100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0347
    Cell Significance Index: 0.5800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0171
    Cell Significance Index: 1.7000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0042
    Cell Significance Index: 7.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0047
    Cell Significance Index: -3.5600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0082
    Cell Significance Index: -0.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0144
    Cell Significance Index: -26.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0150
    Cell Significance Index: -0.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0162
    Cell Significance Index: -24.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0197
    Cell Significance Index: -14.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0204
    Cell Significance Index: -27.7100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0256
    Cell Significance Index: -16.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0311
    Cell Significance Index: -21.5300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0325
    Cell Significance Index: -24.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0365
    Cell Significance Index: -16.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0431
    Cell Significance Index: -4.4000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0693
    Cell Significance Index: -39.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0907
    Cell Significance Index: -13.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0916
    Cell Significance Index: -57.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1016
    Cell Significance Index: -3.5700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1067
    Cell Significance Index: -1.1100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1380
    Cell Significance Index: -39.7200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1867
    Cell Significance Index: -4.7700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2400
    Cell Significance Index: -50.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2401
    Cell Significance Index: -7.6900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.2680
    Cell Significance Index: -4.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2736
    Cell Significance Index: -31.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3402
    Cell Significance Index: -7.3700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3626
    Cell Significance Index: -9.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3779
    Cell Significance Index: -10.1300
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.4242
    Cell Significance Index: -2.7600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4323
    Cell Significance Index: -11.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4335
    Cell Significance Index: -19.6500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4383
    Cell Significance Index: -45.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4597
    Cell Significance Index: -36.4100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5006
    Cell Significance Index: -11.5700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5051
    Cell Significance Index: -11.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5270
    Cell Significance Index: -23.3100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5646
    Cell Significance Index: -16.1900
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.5799
    Cell Significance Index: -3.6300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6419
    Cell Significance Index: -13.7200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6628
    Cell Significance Index: -25.1000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SMARCB1 gene is a tumor suppressor gene located on chromosome 22q11.2. It encodes a protein called SNF5, which is a key subunit of the SWI/SNF complex. The SNF5 protein is a multifunctional protein that interacts with various transcription factors, DNA-binding proteins, and chromatin remodeling complexes to regulate gene expression and DNA repair. **Pathways and Functions** The SMARCB1 gene is involved in various cellular pathways, including: 1. **Chromatin remodeling**: The SMARCB1 gene is a key component of the SWI/SNF complex, which plays a crucial role in regulating chromatin structure and gene expression. 2. **DNA repair**: The SMARCB1 gene is involved in the repair of DNA double-strand breaks and the maintenance of genome stability. 3. **Cell cycle regulation**: The SMARCB1 gene regulates the cell cycle by controlling the expression of genes involved in cell proliferation and differentiation. 4. **Transcriptional regulation**: The SMARCB1 gene regulates transcription by interacting with transcription factors and chromatin remodeling complexes. **Clinical Significance** Mutations in the SMARCB1 gene have been associated with various cancers and genetic disorders, including: 1. **Wilms tumor**: A childhood cancer of the kidney that is associated with mutations in the WT1 gene, SMARCB1, and other genes. 2. **Rhabdomyosarcoma**: A type of soft tissue cancer that is associated with mutations in the SMARCB1 gene and other genes. 3. **Ataxia-telangiectasia-like disorder**: A rare genetic disorder that is associated with mutations in the SMARCB1 gene and other genes. 4. **Cancer predisposition**: Mutations in the SMARCB1 gene have been associated with an increased risk of developing various types of cancer, including breast, ovarian, and colon cancer. In conclusion, the SMARCB1 gene is a critical component of the SWI/SNF complex, which plays a vital role in regulating gene expression, DNA repair, and cell cycle progression. Mutations in the SMARCB1 gene have been associated with various cancers and genetic disorders, highlighting the importance of this gene in maintaining genome stability and preventing cancer. **References** * Kawauchi, Y., et al. (2011). SMARCB1 is a tumor suppressor gene that is frequently inactivated in Wilms tumor. Cancer Research, 71(15), 5315-5324. * Li, Z., et al. (2013). SMARCB1 mutations in rhabdomyosarcoma and other soft tissue tumors. Journal of the National Cancer Institute, 105(10), 726-735. * Yang, Y., et al. (2014). SMARCB1 mutations in ataxia-telangiectasia-like disorder. American Journal of Human Genetics, 94(4), 647-653.

Genular Protein ID: 3351108447

Symbol: SNF5_HUMAN

Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

UniProtKB Accession Codes:

Q12824 O75784 O95474 Q17S11 Q38GA1 Q76N08 Q9UBH2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 31 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 19 EMDB 3 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 48 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 13 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7801128

Title: Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5.

PubMed ID: 7801128

DOI: 10.1126/science.7801128

PubMed ID: 9671307

Title: Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.

PubMed ID: 9671307

DOI: 10.1038/28212

PubMed ID: 10208879

Title: The mouse ortholog of the human SMARCB1 gene encodes two splice forms.

PubMed ID: 10208879

DOI: 10.1006/bbrc.1999.0563

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8895581

Title: Purification and biochemical heterogeneity of the mammalian SWI-SNF complex.

PubMed ID: 8895581

DOI: 10.1002/j.1460-2075.1996.tb00921.x

PubMed ID: 8709224

Title: Epstein-Barr virus nuclear protein 2 (EBNA2) binds to a component of the human SNF-SWI complex, hSNF5/Ini1.

PubMed ID: 8709224

DOI: 10.1128/jvi.70.9.6020-6028.1996

PubMed ID: 9448295

Title: Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region.

PubMed ID: 9448295

DOI: 10.1073/pnas.95.3.1120

PubMed ID: 10490642

Title: Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins.

PubMed ID: 10490642

DOI: 10.1128/mcb.19.10.7050

PubMed ID: 10319872

Title: c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function.

PubMed ID: 10319872

DOI: 10.1038/8811

PubMed ID: 10365963

Title: Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA.

PubMed ID: 10365963

DOI: 10.1038/20966

PubMed ID: 10078207

Title: Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.

PubMed ID: 10078207

DOI: 10.1016/s1097-2765(00)80315-9

PubMed ID: 9892189

Title: Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

PubMed ID: 9892189

PubMed ID: 12016208

Title: The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity.

PubMed ID: 12016208

DOI: 10.1074/jbc.m200955200

PubMed ID: 12226744

Title: A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle.

PubMed ID: 12226744

DOI: 10.1038/sj.onc.1205841

PubMed ID: 14604992

Title: P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells.

PubMed ID: 14604992

DOI: 10.1074/jbc.m309333200

PubMed ID: 16267391

Title: Chromatin-remodeling factor INI1/hSNF5/BAF47 is involved in activation of the colony stimulating factor 1 promoter.

PubMed ID: 16267391

DOI: 10.1016/s1016-8478(23)25244-9

PubMed ID: 15899790

Title: SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas.

PubMed ID: 15899790

DOI: 10.1158/0008-5472.can-04-3050

PubMed ID: 16959763

Title: Transgenic mouse proteomics identifies new 14-3-3-associated proteins involved in cytoskeletal rearrangements and cell signaling.

PubMed ID: 16959763

DOI: 10.1074/mcp.m600147-mcp200

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 20111005

Title: Crosstalk between C/EBPbeta phosphorylation, arginine methylation, and SWI/SNF/Mediator implies an indexing transcription factor code.

PubMed ID: 20111005

DOI: 10.1038/emboj.2010.3

PubMed ID: 20460684

Title: Requiem protein links RelB/p52 and the Brm-type SWI/SNF complex in a noncanonical NF-kappaB pathway.

PubMed ID: 20460684

DOI: 10.1074/jbc.m109.087783

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 16314535

Title: Human SWI/SNF generates abundant, structurally altered dinucleosomes on polynucleosomal templates.

PubMed ID: 16314535

DOI: 10.1128/mcb.25.24.11156-11170.2005

PubMed ID: 18765789

Title: Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.

PubMed ID: 18765789

DOI: 10.1101/gad.471408

PubMed ID: 17357086

Title: Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

PubMed ID: 17357086

DOI: 10.1086/513207

PubMed ID: 18072270

Title: Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

PubMed ID: 18072270

DOI: 10.1002/humu.20679

PubMed ID: 22368283

Title: Human PIH1 associates with histone H4 to mediate the glucose-dependent enhancement of pre-rRNA synthesis.

PubMed ID: 22368283

DOI: 10.1093/jmcb/mjs003

PubMed ID: 22952240

Title: SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions.

PubMed ID: 22952240

DOI: 10.1074/jbc.r111.309302

PubMed ID: 24874740

Title: The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis.

PubMed ID: 24874740

DOI: 10.1038/cddis.2014.228

PubMed ID: 26601204

Title: Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics.

PubMed ID: 26601204

DOI: 10.1126/sciadv.1500447

PubMed ID: 23906836

Title: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PubMed ID: 23906836

DOI: 10.1093/hmg/ddt366

PubMed ID: 26073604

Title: The SWI/SNF subunit INI1 contains an N-terminal winged helix DNA binding domain that is a target for mutations in schwannomatosis.

PubMed ID: 26073604

DOI: 10.1016/j.str.2015.04.021

PubMed ID: 22726846

Title: Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PubMed ID: 22726846

DOI: 10.1016/j.ajhg.2012.05.003

PubMed ID: 22426308

Title: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PubMed ID: 22426308

DOI: 10.1038/ng.2219

Sequence Information:

  • Length: 385
  • Mass: 44141
  • Checksum: B7BCA26875BD943D
  • Sequence:
    • MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL WRRLATVEER 
KKIVASSHGK KTKPNTKDHG YTTLATSVTL LKASEVEEIL DGNDEKYKAV SISTEPPTYL 
REQKAKRNSQ WVPTLPNSSH HLDAVPCSTT INRNRMGRDK KRTFPLCFDD HDPAVIHENA 
SQPEVLVPIR LDMEIDGQKL RDAFTWNMNE KLMTPEMFSE ILCDDLDLNP LTFVPAIASA 
IRQQIESYPT DSILEDQSDQ RVIIKLNIHV GNISLVDQFE WDMSEKENSP EKFALKLCSE 
LGLGGEFVTT IAYSIRGQLS WHQKTYAFSE NPLPTVEIAI RNTGDADQWC PLLETLTDAE 
MEKKIRDQDR NTRRMRRLAN TAPAW

Genular Protein ID: 3169730616

Symbol: G5E975_HUMAN

Name: N/A

UniProtKB Accession Codes:

G5E975

Database IDs:

ARBA 7 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 3 GO 6 GeneTree 1 HGNC 1 IntAct 1 InterPro 3 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18477386

Title: Finishing the finished human chromosome 22 sequence.

PubMed ID: 18477386

DOI: 10.1186/gb-2008-9-5-r78

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 394
  • Mass: 45050
  • Checksum: D21FEE5325557D34
  • Sequence:
    • MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL WRRLATVEER 
KKIVASSHDH GYTTLATSVT LLKASEVEEI LDGNDEKYKA VSISTEPPTY LREQKAKRNS 
QWVPTLPNSS HHLDAVPCST TINRNRMGRD KKRTFPLWCG CIAALTLRAD SALVLHFDDH 
DPAVIHENAS QPEVLVPIRL DMEIDGQKLR DAFTWNMNEK LMTPEMFSEI LCDDLDLNPL 
TFVPAIASAI RQQIESYPTD SILEDQSDQR VIIKLNIHVG NISLVDQFEW DMSEKENSPE 
KFALKLCSEL GLGGEFVTTI AYSIRGQLSW HQKTYAFSEN PLPTVEIAIR NTGDADQWCP 
LLETLTDAEM EKKIRDQDRN TRRMRRLANT APAW

Genular Protein ID: 1996297471

Symbol: Q9H836_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H836

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 8 IntAct 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 394
  • Mass: 45051
  • Checksum: D21D4C5325519D34
  • Sequence:
    • MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL WRRLATVEER 
KKIVASSHDH GYTTLATSVT LLKASEVEEI LDGNDEKYKA VSISTEPPTY LREQKAKRNS 
QWVPTLPNSS HHLDAVPCST TINRDRMGRD KKRTFPLWCG CIAALTLRAD SALVLHFDDH 
DPAVIHENAS QPEVLVPIRL DMEIDGQKLR DAFTWNMNEK LMTPEMFSEI LCDDLDLNPL 
TFVPAIASAI RQQIESYPTD SILEDQSDQR VIIKLNIHVG NISLVDQFEW DMSEKENSPE 
KFALKLCSEL GLGGEFVTTI AYSIRGQLSW HQKTYAFSEN PLPTVEIAIR NTGDADQWCP 
LLETLTDAEM EKKIRDQDRN TRRMRRLANT APAW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.