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SMARCB1 Gene(Protein Coding)

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1

GCID:
GC22P023786
GIFtS:
65
Genes Participants
UDN Logo

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
  • 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
  • Protein Phosphatase 1, Regulatory Subunit 144 3
  • Sucrose Nonfermenting, Yeast, Homolog-Like 1 3
  • SWI/SNF-Related Matrix-Associated Protein 3
  • Integrase Interactor 1 2
  • Regulatory Subunit 144 2
  • Protein Phosphatase 1 2
  • Sucrose Nonfermenting 2
  • Homolog-Like 1 2
  • PPP1R144 3
  • SWNTS1 3
  • Yeast 2
  • MRD15 3
  • RTPS1 3
  • Sfh1p 3
  • HSNFS 3
  • SNF5 3
  • Snr1 3
  • RDT 3

External Ids for SMARCB1 Gene

Previous HGNC Symbols for SMARCB1 Gene

  • SNF5L1

Previous GeneCards Identifiers for SMARCB1 Gene

  • GC22P020825
  • GC22P022453
  • GC22P024129
  • GC22P007117

Summaries for SMARCB1 Gene

Entrez Gene Summary 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 Mental Retardation, Autosomal Dominant 15 and Rhabdoid Tumors, Somatic. Among its related pathways are BRCA1 Pathway and TNF-alpha/NF-kB Signaling 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.

Gene Wiki entry for SMARCB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCB1 Gene

Genomics for SMARCB1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SMARCB1 Gene

Enhancers for SMARCB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMARCB1 on UCSC Golden Path with GeneCards custom track

Promoters for SMARCB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMARCB1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SMARCB1 gene promoter:

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:
SMARCB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SMARCB1 Gene

Proteins for SMARCB1 Gene

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  • 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for SMARCB1 Gene

    Alternative splice isoforms for SMARCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCB1 Gene

Proteomics data for SMARCB1 Gene at MOPED

Protein Expression for SMARCB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SMARCB1 Gene

  • Ubiquitination at Lys 8, Lys 292, and Lys 324
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMARCB1 Gene

Domains & Families for SMARCB1 Gene

Gene Families for SMARCB1 Gene

HGNC:

Protein Domains for SMARCB1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SMARCB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12824

UniProtKB/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.
genes like me logo Genes that share domains with SMARCB1: view

Function for SMARCB1 Gene

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  2. CRISPR
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  7. Flow Cytometry

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.

Gene Ontology (GO) - Molecular Function for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 11950834
GO:0031492 contributes_to nucleosomal DNA binding IDA 16217013
genes like me logo Genes that share ontologies with SMARCB1: view

Phenotypes for SMARCB1 Gene

MGI mutant phenotypes for SMARCB1:
inferred from 7 alleles
GenomeRNAi human phenotypes for SMARCB1:
genes like me logo Genes that share phenotypes with SMARCB1: view

Human Phenotype Ontology for SMARCB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMARCB1 Gene

MGI Knock Outs for SMARCB1:

Animal Model Products

CRISPR Products

miRNA for SMARCB1 Gene

miRTarBase miRNAs that target SMARCB1

Inhibitory RNA Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCB1 Gene COMPARTMENTS Subcellular localization image for SMARCB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043234 protein complex IDA 16217013
genes like me logo Genes that share ontologies with SMARCB1: view

Pathways & Interactions for SMARCB1 Gene

genes like me logo Genes that share pathways with SMARCB1: view

SIGNOR curated interactions for SMARCB1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001824 blastocyst development IEA --
GO:0006338 chromatin remodeling IEA,IMP 22368283
GO:0006351 transcription, DNA-templated IEA --
GO:0030154 cell differentiation IBA --
GO:0043044 ATP-dependent chromatin remodeling IDA 16217013
genes like me logo Genes that share ontologies with SMARCB1: view

Drugs & Compounds for SMARCB1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for SMARCB1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SMARCB1 Gene

(7) 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

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCB1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for SMARCB1 Gene

GeneLoc Exon Structure for
SMARCB1
ECgene alternative splicing isoforms for
SMARCB1

Expression for SMARCB1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for SMARCB1 Gene

mRNA expression in normal human tissues for SMARCB1 Gene
mRNA expression by BioGPS for SMARCB1 GenemRNA expression by GTEx for SMARCB1 Gene

Protein differential expression in normal tissues from HIPED 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, MOPED, and MaxQB for SMARCB1 Gene



SOURCE GeneReport for Unigene cluster for SMARCB1 Gene Hs.534350

genes like me logo Genes that share expression patterns with SMARCB1: view

Protein tissue co-expression partners for SMARCB1 Gene

- Elite partner

Primer Products

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.

Orthologs for SMARCB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia SMARCB1 35
  • 92.55 (n)
  • 99.74 (a)
SMARCB1 36
  • 100 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SMARCB1 35
  • 93.59 (n)
  • 100 (a)
SMARCB1 36
  • 100 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Smarcb1 35
  • 91.26 (n)
  • 100 (a)
Smarcb1 16
Smarcb1 36
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia SMARCB1 35
  • 99.83 (n)
  • 100 (a)
SMARCB1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Smarcb1 35
  • 91.4 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
 Mammalia SMARCB1 36
  • 97 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SMARCB1 36
  • 99 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MMP11 35
  • 84.68 (n)
  • 96.88 (a)
SMARCB1 36
  • 96 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SMARCB1 36
  • 92 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia smarcb1 35
  • 79.81 (n)
  • 97.88 (a)
Str.7159 35
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7591 35
zebrafish
(Danio rerio)
 Actinopterygii Dr.16141 35
smarcb1a 35
  • 83.82 (n)
  • 95.98 (a)
smarcb1a 36
  • 95 (a)
 OneToMany
smarcb1b 36
  • 95 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.455 35
fruit fly
(Drosophila melanogaster)
 Insecta Snr1 37
  • 65 (a)
Snr1 35
  • 66.21 (n)
  • 68.29 (a)
Snr1 36
  • 67 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001154 35
  • 65.48 (n)
  • 70.68 (a)
worm
(Caenorhabditis elegans)
 Secernentea R07E5.3 37
  • 49 (a)
snfc-5 35
  • 54.75 (n)
  • 54.75 (a)
snfc-5 36
  • 50 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SNF5 36
  • 11 (a)
 OneToOne
SFH1 38
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.9854 35
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.132 36
  • 68 (a)
 OneToOne
Species with no ortholog for SMARCB1:
  • 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)

Evolution for SMARCB1 Gene

ENSEMBL:
Gene Tree for SMARCB1 (if available)
TreeFam:
Gene Tree for SMARCB1 (if available)

Paralogs for SMARCB1 Gene

No data available for Paralogs for SMARCB1 Gene

Variants for SMARCB1 Gene

Sequence variations from dbSNP and Humsavar for SMARCB1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_068179 Mental retardation, autosomal dominant 15 (MRD15)
rs2186364 -- 23,796,654(+) GCTTG(A/G)CCTTC intron-variant
rs2186369 -- 23,828,809(+) TACAG(G/T)GGGGC intron-variant
rs2186370 -- 23,829,118(+) CCTGC(A/G)AAGTT intron-variant
rs2229354 -- 23,825,326(+) TGCTC(A/G/T)GAGCT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SMARCB1 Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
esv2724041 CNV Deletion 23290073
nsv526567 CNV Gain 19592680
dgv4906n71 CNV Gain 21882294
nsv914597 CNV Loss 21882294
nsv829103 CNV Gain 20364138
nsv914598 CNV Loss 21882294
nsv914599 CNV Gain 21882294
nsv511075 CNV Complex 20534489
dgv4907n71 CNV Loss 21882294
dgv4908n71 CNV Loss 21882294

Variation tolerance for SMARCB1 Gene

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

Human Gene Mutation Database (HGMD)
SMARCB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCB1 Gene

Disorders for SMARCB1 Gene

MalaCards: The human disease database

(64) MalaCards diseases for SMARCB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 15
  • coffin-siris syndrome
rhabdoid tumors, somatic
  • rhabdoid predisposition syndrome 1
schwannomatosis
  • schwannomatosis-1
atypical teratoid rhabdoid tumor
  • at/rt
familial multiple meningioma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SNF5_HUMAN
  • Mental retardation, autosomal dominant 15 (MRD15) [MIM:614608]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger or toenails, a coarse facial appearance, sparse scalp hair, thick eyebrows, and long eyelashes. Additional variable features include microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, hirsutism. {ECO:0000269 PubMed:22426308}. 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

Genetic Association Database (GAD)
SMARCB1
Human Genome Epidemiology (HuGE) Navigator
SMARCB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCB1
genes like me logo Genes that share disorders with SMARCB1: view

No data available for Genatlas for SMARCB1 Gene

Publications for SMARCB1 Gene

  1. Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA. (PMID: 10365963) Lee D. … Choe J. (Nature 1999) 2 3 4 23 67
  2. 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 23
  3. 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 23
  4. Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. (PMID: 20118769) Kleinschmidt-DeMasters B.K. … Lillehei K.O. (Am. J. Surg. Pathol. 2010) 3 23
  5. Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. (PMID: 18997735) Kreiger P.A. … Pawel B.R. (Mod. Pathol. 2009) 3 23

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