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 m... See more...

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
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 3 4
  • 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 Protein 3
  • Integrase Interactor 1 2
  • PPP1R144 3
  • SWNTS1 3
  • MRD15 3
  • RTPS1 3
  • Sfh1p 3
  • HSNFS 3
  • CSS3 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]

CIViC Summary for SMARCB1 Gene

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 Rhabdoid Tumor Predisposition Syndrome 1 and Coffin-Siris Syndrome 3. Among its related pathways are AMPK Enzyme Complex Pathway and BRCA1 Pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and RNA polymerase II distal enhancer sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SMARCB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMARCB1 Gene

Genomics for SMARCB1 Gene

GeneHancer (GH) Regulatory Elements for SMARCB1 Gene

Promoters and enhancers for SMARCB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMARCB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMARCB1 gene promoter:
  • AREB6
  • ARP-1
  • Egr-3
  • HOXA5
  • LCR-F1
  • Lmo2
  • MZF-1
  • p300
  • p53

Genomic Locations for SMARCB1 Gene

Genomic Locations for SMARCB1 Gene
chr22:23,786,931-23,838,008
(GRCh38/hg38)
Size:
51,078 bases
Orientation:
Plus strand
chr22:24,129,150-24,176,705
(GRCh37/hg19)
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 StructureGene 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
    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 multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:8895581, PubMed:18765789). 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). Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:26601204). Binds to double-stranded DNA. Interacts with CEBPB (when not methylated) (PubMed:20111005). Interacts with PIH1D1 (PubMed:22368283). Interacts with MYK and MAEL (PubMed:10319872). Interacts with PPP1R15A (PubMed:10490642, PubMed:12016208). Interacts with DPF2 (PubMed:20460684). Interacts with YWHAZ (PubMed:16959763).
    • (Microbial infection) 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 (PubMed:10365963). Interacts with Epstein-Barr virus protein EBNA-2 (PubMed:8709224).

    Three dimensional structures from OCA and Proteopedia for SMARCB1 Gene

    Alternative splice isoforms for SMARCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCB1 Gene

Post-translational modifications for SMARCB1 Gene

  • Ubiquitination at Lys8, Lys292, and Lys324
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMARCB1 Gene

Domains & Families for SMARCB1 Gene

Gene Families for SMARCB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SMARCB1 Gene

Blocks:
InterPro:
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

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

Molecular function for SMARCB1 Gene

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.
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

Phenotypes From GWAS Catalog for SMARCB1 Gene

Gene Ontology (GO) - Molecular Function for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA 16217013
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IMP 22368283
GO:0002039 p53 binding IPI 11950834
GO:0003677 DNA binding IDA,IEA 26073604
genes like me logo Genes that share ontologies with SMARCB1: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCB1

Clone 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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMARCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin HDA 16217013
GO:0001650 fibrillar center IDA --
GO:0001741 XY body IEA --
GO:0005634 nucleus IEA,IDA 11430827
GO:0005654 nucleoplasm IDA,TAS --
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

Pathways by source for SMARCB1 Gene

1 BioSystems pathway for SMARCB1 Gene
2 KEGG pathways for SMARCB1 Gene
4 Qiagen pathways for SMARCB1 Gene
  • AMPK Enzyme Complex Pathway
  • BRCA1 Pathway
  • Chromatin Remodeling
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for SMARCB1 Gene

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:0001188 RNA polymerase I preinitiation complex assembly IEA --
GO:0001824 blastocyst development IEA --
GO:0001835 blastocyst hatching IEA --
GO:0006325 chromatin organization IEA --
GO:0006337 nucleosome disassembly IDA,IBA 8895581
genes like me logo Genes that share ontologies with SMARCB1: view

Drugs & Compounds for SMARCB1 Gene

No Compound Related Data Available

Transcripts for SMARCB1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMARCB1

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SMARCB1 Gene



Protein tissue co-expression partners for SMARCB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCB1 Gene:

SMARCB1

SOURCE GeneReport for Unigene cluster for SMARCB1 Gene:

Hs.534350

Evidence on tissue expression from TISSUES for SMARCB1 Gene

  • Nervous system(4.8)
  • Lung(3.1)
  • Kidney(2.8)
  • Muscle(2.3)
  • Lymph node(2.2)
  • Eye(2.1)
  • Intestine(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SMARCB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SMARCB1 33 32
  • 99.83 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCB1 33
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCB1 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCB1 33 32
  • 93.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCB1 33 32
  • 92.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarcb1 32
  • 91.4 (n)
mouse
(Mus musculus)
Mammalia Smarcb1 17 33 32
  • 91.26 (n)
chicken
(Gallus gallus)
Aves SMARCB1 33
  • 96 (a)
OneToOne
MMP11 32
  • 84.68 (n)
lizard
(Anolis carolinensis)
Reptilia SMARCB1 33
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcb1 32
  • 79.81 (n)
Str.7159 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.7591 32
zebrafish
(Danio rerio)
Actinopterygii smarcb1b 33
  • 95 (a)
OneToMany
smarcb1a 33 32
  • 83.82 (n)
OneToMany
Dr.16141 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.455 32
fruit fly
(Drosophila melanogaster)
Insecta Snr1 33 34 32
  • 66.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001154 32
  • 65.48 (n)
worm
(Caenorhabditis elegans)
Secernentea snfc-5 33 32
  • 54.75 (n)
OneToOne
R07E5.3 34
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF5 33
  • 11 (a)
OneToOne
SFH1 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.132 33
  • 68 (a)
OneToOne
Cin.9854 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9854 32
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)

Evolution for SMARCB1 Gene

ENSEMBL:
Gene Tree for SMARCB1 (if available)
TreeFam:
Gene Tree for SMARCB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMARCB1: view image

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 Variation AA Info Type
rs1007579645 likely-benign, Rhabdoid tumor predisposition syndrome 1 23,816,945(+) C/T intron_variant
rs1031967752 likely-benign, Rhabdoid tumor predisposition syndrome 1 23,803,322(+) C/A coding_sequence_variant, synonymous_variant
rs1049144154 uncertain-significance, Rhabdoid tumor predisposition syndrome 1 23,816,891(+) G/A coding_sequence_variant, synonymous_variant
rs1057517825 pathogenic, likely-pathogenic, not provided, Inborn genetic diseases, Coffin-Siris syndrome 3 (CSS3) [MIM:614608] 23,834,143(+) G/A coding_sequence_variant, missense_variant
rs1060503015 pathogenic, Rhabdoid tumor predisposition syndrome 1 23,791,780(+) C/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv4531n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
esv2724041 CNV deletion 23290073
esv3568301 CNV loss 25503493
esv3575443 CNV gain 25503493
esv3575444 CNV gain 25503493
esv3575445 CNV gain 25503493
esv3893457 CNV gain 25118596
esv3893461 CNV gain 25118596
nsv1062411 CNV gain 25217958
nsv1066891 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv511075 OTHER complex 20534489
nsv526567 CNV gain 19592680
nsv588647 CNV gain 21841781
nsv7350 OTHER inversion 18451855
nsv829103 CNV gain 20364138

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)

Additional Variant Information for SMARCB1 Gene

Human Gene Mutation Database (HGMD)
SMARCB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCB1

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

Disorders for SMARCB1 Gene

MalaCards: The human disease database

(68) MalaCards diseases for SMARCB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SNF5_HUMAN
  • 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.
  • 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:22726846, ECO:0000269 PubMed:23906836}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SMARCB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 56
  2. Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. (PMID: 7801128) Kalpana GV … Goff SP (Science (New York, N.Y.) 1994) 2 3 4 23 56
  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 43 56
  4. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. (PMID: 18072270) Sestini R … Papi L (Human mutation 2008) 3 4 23 56
  5. P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells. (PMID: 14604992) Oruetxebarria I … Verrijzer CP (The Journal of biological chemistry 2004) 3 4 23 56

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Sources for SMARCB1 Gene