Aliases for SMARCB1 Gene
Aliases for SMARCB1 Gene
- SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1 2 3 5
- Protein Phosphatase 1, Regulatory Subunit 144 2 3
- Sucrose Nonfermenting, Yeast, Homolog-Like 1 2 3
- Malignant Rhabdoid Tumor Suppressor 2 3
- Integrase Interactor 1 Protein 3 4
- BRG1-Associated Factor 47 3 4
- SNF5 Homolog 3 4
- SNF5L1 3 4
- BAF47 3 4
- HSNF5 3 4
- INI1 3 4
- SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 3
- SWI/SNF-Related Matrix-Associated Protein 3
External Ids for SMARCB1 Gene
- HGNC: 11103
- Entrez Gene: 6598
- Ensembl: ENSG00000099956
- OMIM: 601607
- UniProtKB: Q12824
Previous HGNC Symbols for SMARCB1 Gene
- SNF5L1
Previous GeneCards Identifiers for SMARCB1 Gene
- GC22P020825
- GC22P022453
- GC22P024129
- GC22P007117
Summaries for SMARCB1 Gene
-
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
GeneCards Summary for SMARCB1 Gene
SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) is a Protein Coding gene. Diseases associated with SMARCB1 include Schwannomatosis and Rhabdoid Tumors, Somatic. Among its related pathways are Regulation of retinoblastoma protein and AMPK Enzyme Complex Pathway. GO annotations related to this gene include transcription coactivator activity and RNA polymerase II distal enhancer sequence-specific DNA binding.
UniProtKB/Swiss-Prot for SMARCB1 Gene
-
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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 postmitotic 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 postmitotic 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCB1 Gene
Genomics for SMARCB1 Gene
Regulatory Elements for SMARCB1 Gene
Enhancers for SMARCB1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SMARCB1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for SMARCB1 Gene
- Chromosome:
- 22
- Start:
- 23,786,963 bp from pter
- End:
- 23,834,518 bp from pter
- Size:
- 47,556 bases
- Orientation:
- Plus strand
Genomic View for SMARCB1 Gene
Genes around SMARCB1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.23 by Ensembl
- 22q11.23|22q11 by Entrez Gene
- 22q11.23 by HGNC
SMARCB1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMARCB1 Gene
Proteins for SMARCB1 Gene
-
Protein details for SMARCB1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12824-SNF5_HUMAN
- Recommended name:
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
- Protein Accession:
- Q12824
- O75784
- O95474
- Q17S11
- Q38GA1
- Q76N08
- Q9UBH2
Protein attributes for SMARCB1 Gene
- Size:
- 385 amino acids
- Molecular mass:
- 44141 Da
- Quaternary structure:
-
- Component of the BAF (hSWI/SNF) complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Binds to double-stranded DNA. Interacts with MYK and MAEL. Interacts with Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Binds tightly to the human immunodeficiency virus-type 1 (HIV-1) integrase in vitro and stimulates its DNA-joining activity. Interacts with human papillomavirus 18 E1 protein to stimulate its viral replication. Interacts with Epstein-Barr virus protein EBNA-2. Interacts with CEBPB (when not methylated) (PubMed:20111005). Interacts with PIH1D1 (PubMed:22368283).
Protein Expression for SMARCB1 Gene
Post-translational modifications for SMARCB1 Gene
Other Protein References for SMARCB1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SMARCB1
- Cell Signaling Technology (CST) Antibodies for SMARCB1 (SMARCB1)
-
Custom Antibody ServicesOriGene Antibodies for SMARCB1
- Novus Biologicals Antibodies for SMARCB1
- Invitrogen Antibodies for SMARCB1
- antibodies-online Antibodies for SMARCB1: See all 116
- GeneTex SMARCB1 antibody for SMARCB1
-
St John's Laboratory Antibodies for SMARCB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMARCB1
Protein Products
-
OriGene Purified Proteins for SMARCB1
- Search Origene for MassSpec and Protein Over-expression Lysates for SMARCB1
- Origene Custom Protein Services for SMARCB1
- antibodies-online Proteins for SMARCB1: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SMARCB1
Assay Products
- antibodies-online Kits for SMARCB1: See all 4
No data available for DME Specific Peptides for SMARCB1 Gene
Domains & Families for SMARCB1 Gene
Gene Families for SMARCB1 Gene
Protein Domains for SMARCB1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMARCB1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ11357 fis, clone HEMBA1000201, highly similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily Bmember 1 (Q17S11_HUMAN)
- SWI/SNF-related matrix-associated protein (Q6Q321_HUMAN)
- Integrase interactor 1 protein isoform F (Q86WI6_HUMAN)
- Integrase interactor 1 protein isoform E (Q86WI7_HUMAN)
- Integrase interactor 1 protein isoform D (Q86WI8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q12824UniProtKB/Swiss-Prot:
SNF5_HUMAN :- The N-terminal DNA-binding region is structurally similar to winged helix domains.
- Belongs to the SNF5 family.
- Domain:
-
- The N-terminal DNA-binding region is structurally similar to winged helix domains.
- Family:
-
- Belongs to the SNF5 family.
Function for SMARCB1 Gene
Molecular function for SMARCB1 Gene
- GENATLAS Biochemistry:
- general transcriptional activator,S cerevisiae SWI/SNF2 related protein,matrix associated,actin-dependent regulator of chromatin,subfamily B,member 1,component of the chromatin remodeling complex,preferentially expressed in muscle and pancreas,mutated in atypical teratoid and rhabdoid tumors,tumor suppressor gene (see TSG22D),frequently deleted in chronic myeloid leukemia
- UniProtKB/Swiss-Prot Function:
- Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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 postmitotic 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 postmitotic 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding | IDA | 16217013 |
| GO:0000980 | contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding | IDA | 16217013 |
| GO:0001164 | RNA polymerase I CORE element sequence-specific DNA binding | IMP | 22368283 |
| GO:0002039 | p53 binding | IPI | 11950834 |
| GO:0003677 | DNA binding | IEA,IDA | 26073604 |
Phenotypes for SMARCB1 Gene
- MGI mutant phenotypes for SMARCB1:
-
inferred from 7 alleles
- cellular phenotype
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- immune system phenotype
- cardiovascular system phenotype
- reproductive system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- neoplasm
- digestive/alimentary phenotype
- embryo phenotype
- vision/eye phenotype
- GenomeRNAi human phenotypes for SMARCB1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Wnt reporter downregulated
- Decreased shRNA abundance (Z-score < -2)
- Increased Nanog expression
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased IL-13 protein expression
- Increased proliferation
Animal Models for SMARCB1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMARCB1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SMARCB1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCB1 gene
- Search ViGene Biosciences for SMARCB1
CRISPR Products
-
OriGene CRISPR knockouts for SMARCB1
- GenScript: Design CRISPR guide RNA sequences for SMARCB1
miRNA for SMARCB1 Gene
- miRTarBase miRNAs that target SMARCB1
miRNA Products
- Search ViGene Biosciences for SMARCB1
Clone Products
- Sino Biological Human cDNA Clone for SMARCB1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SMARCB1
- VectorBuilder custom plasmid, inducible vectors for SMARCB1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMARCB1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for SMARCB1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SMARCB1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCB1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMARCB1 Gene
Localization for SMARCB1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMARCB1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 16217013 |
| GO:0001741 | XY body | IEA | -- |
| GO:0005634 | nucleus | IDA | 11430827 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | 22368283 |
Pathways & Interactions for SMARCB1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | AMPK Enzyme Complex Pathway | ||
| 2 | Chromatin organization | ||
| 3 | Transcription Ligand-dependent activation of the ESR1/SP pathway | ||
| 4 | Chromatin Regulation / Acetylation | ||
| 5 | BRCA1 Pathway | ||
Pathways by source for SMARCB1 Gene
1 Cell Signaling Technology pathway for SMARCB1 Gene
1 BioSystems pathway for SMARCB1 Gene
3 Reactome pathways for SMARCB1 Gene
2 GeneGo (Thomson Reuters) pathways for SMARCB1 Gene
4 Qiagen pathways for SMARCB1 Gene
Interacting Proteins for SMARCB1 Gene
Selected Interacting proteins:
Q12824-SNF5_HUMAN
ENSP00000263121
for SMARCB1 Gene via
MINT
STRING
IID
UniProtKB
SIGNOR curated interactions for SMARCB1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001824 | blastocyst development | IEA | -- |
| GO:0001835 | blastocyst hatching | IEA | -- |
| GO:0006281 | DNA repair | IBA | -- |
| GO:0006337 | nucleosome disassembly | IDA | 8895581 |
| GO:0006338 | chromatin remodeling | IEA,IMP | 22368283 |
Transcripts for SMARCB1 Gene
mRNA/cDNA for SMARCB1 Gene
- (4) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (454) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SMARCB1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SMARCB1
- GenScript: Design CRISPR guide RNA sequences for SMARCB1
miRNA Products
- Search ViGene Biosciences for SMARCB1
Clone Products
- Sino Biological Human cDNA Clone for SMARCB1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SMARCB1
- VectorBuilder custom plasmid, inducible vectors for SMARCB1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMARCB1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||
| SP7: |
Expression for SMARCB1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Liver (9.5), and Testis (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCB1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SMARCB1 Gene:
SMARCB1SOURCE GeneReport for Unigene cluster for SMARCB1 Gene:
Hs.534350Primer Products
-
OriGene qPCR primer pairs for SMARCB1
-
OriGene qPCR primer pairs and template standards for SMARCB1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMARCB1 Gene
Orthologs for SMARCB1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMARCB1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMARCB1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SMARCB1 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SMARCB1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SMARCB1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Smarcb1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Smarcb1 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | SMARCB1 35 |
|
OneToOne | |
| MMP11 34 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | SMARCB1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smarcb1 34 |
|
||
| Str.7159 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7591 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | smarcb1b 35 |
|
OneToMany | |
| smarcb1a 34 35 |
|
||||
| Dr.16141 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.455 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Snr1 36 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001154 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | snfc-5 34 35 |
|
||
| R07E5.3 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SNF5 35 |
|
OneToOne | |
| SFH1 37 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.132 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9854 34 |
|
- Species where no ortholog for SMARCB1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SMARCB1 Gene
No data available for Paralogs for SMARCB1 Gene
Variants for SMARCB1 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387906812 | Coffin-Siris syndrome 3 (CSS3) [MIM:614608], Pathogenic | 23,834,152(+) | GAGGC(A/G)TCTTG | downstream-variant-500B, reference, missense | |
| VAR_076934 | Coffin-Siris syndrome 3 (CSS3) [MIM:614608] | ||||
| VAR_076935 | Coffin-Siris syndrome 3 (CSS3) [MIM:614608] | ||||
| rs121434496 | Pathogenic | 23,803,338(+) | CATCT(C/T)AGCCC | reference, stop-gained | |
| rs267607072 | Pathogenic | 23,787,261(+) | CTCCG(A/T)GGTAG | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv829103 | CNV | gain | 20364138 |
| nsv7350 | OTHER | inversion | 18451855 |
| nsv588647 | CNV | gain | 21841781 |
| nsv526567 | CNV | gain | 19592680 |
| nsv511075 | OTHER | complex | 20534489 |
| nsv1110863 | OTHER | inversion | 24896259 |
| nsv1066891 | CNV | gain | 25217958 |
| nsv1062411 | CNV | gain | 25217958 |
| esv3893461 | CNV | gain | 25118596 |
| esv3893457 | CNV | gain | 25118596 |
| esv3575445 | CNV | gain | 25503493 |
| esv3575444 | CNV | gain | 25503493 |
| esv3575443 | CNV | gain | 25503493 |
| esv3568301 | CNV | loss | 25503493 |
| esv2724041 | CNV | deletion | 23290073 |
| dgv8039n54 | CNV | gain | 21841781 |
| dgv4531n100 | CNV | gain | 25217958 |
| dgv4528n100 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.08;
1.77% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SMARCB1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCB1 Gene
Disorders for SMARCB1 Gene
(55) MalaCards diseases for SMARCB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schwannomatosis |
|
|
| rhabdoid tumors, somatic |
|
|
| mental retardation, autosomal dominant 15 |
|
|
| rhabdoid cancer |
|
|
| familial rhabdoid tumor |
|
|
Search SMARCB1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SNF5_HUMAN- Coffin-Siris syndrome 3 (CSS3) [MIM:614608]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:23906836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. {ECO:0000269 PubMed:9671307, ECO:0000269 PubMed:9892189}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Schwannomatosis 1 (SWNTS1) [MIM:162091]: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:17357086, ECO:0000269 PubMed:18072270}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Relevant External Links for SMARCB1
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Publications for SMARCB1 Gene
- Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA. (PMID: 10365963) Lee D. … Choe J. (Nature 1999) 2 3 4 22 64
- Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. (PMID: 7801128) Kalpana G.V. … Goff S.P. (Science 1994) 2 3 4 22 64
- Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. (PMID: 19902524) Kordes U. … Schneppenheim R. (Genes Chromosomes Cancer 2010) 3 22 46 64
- Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. (PMID: 18072270) Sestini R. … Papi L. (Hum. Mutat. 2008) 3 4 22 64
- P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. (PMID: 14604992) Oruetxebarria I. … Verrijzer C.P. (J. Biol. Chem. 2004) 3 4 22 64
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