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    SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [ Homo sapiens (human) ]

    Gene ID: 6597, updated on 16-Apr-2018
    Official Symbol
    SMARCA4provided by HGNC
    Official Full Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4provided by HGNC
    Primary source
    HGNC:HGNC:11100
    See related
    Ensembl:ENSG00000127616 MIM:603254; Vega:OTTHUMG00000169272
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRG1; CSS4; SNF2; SWI2; MRD16; RTPS2; BAF190; SNF2L4; SNF2LB; hSNF2b; BAF190A
    Summary
    The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in testis (RPKM 21.8), brain (RPKM 14.5) and 25 other tissues See more
    Orthologs
    Location:
    19p13.2
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (10960922..11062282)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11071598..11172958)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coactivator associated arginine methyltransferase 1 Neighboring gene Yip1 domain family member 2 Neighboring gene translocase of inner mitochondrial membrane 29 Neighboring gene RNA, 7SL, cytoplasmic 192, pseudogene Neighboring gene low density lipoprotein receptor Neighboring gene microRNA 6886 Neighboring gene VISTA enhancer hs1754

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mental retardation, autosomal dominant 16
    MedGen: C3553249 OMIM: 614609 GeneReviews: Not available
    Compare labs
    Rhabdoid tumor predisposition syndrome 2 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-09-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2013-09-04)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Most of the components of the SWI2/SNF2 chromatin remodeling complex (BRG1/BRM, BAF250, BAF180, BAF170, BAF155, BAF60a, BAF53A, actin and InI) except BRM, BAF155 and BAF57, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
    tat HIV-1 Tat induces phosphorylation of BRG1 and BAF155 PubMed
    tat INI-1 and BRG-1 synergize with the p300 acetyltransferase to activate the HIV promoter; this synergism depends on the acetyltransferase activity of p300 and on HIV-1 Tat amino acids Lys(50) and Lys(51), suggesting a regulation of Tat by these proteins PubMed
    tat Acetylated HIV-1 Tat binds efficiently to BRG1 and BAF200 (component of PBAF complex) and weakly to BAF250 (component of BAF complex) PubMed

    Go to the HIV-1, Human Interaction Database

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
      Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
    • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
      Glucocorticoid receptor regulatory network, organism-specific biosystem
      Glucocorticoid receptor regulatory network
    • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Interleukin-7 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-7 signaling, organism-specific biosystemInterleukin-7 (IL7) is produced primarily by T zone fibroblastic reticular cells found in lymphoid organs, and also expressed by non-hematopoietic stromal cells present in other tissues including the...
    • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
      Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...
    • RMTs methylate histone arginines, organism-specific biosystem (from REACTOME)
      RMTs methylate histone arginines, organism-specific biosystemArginine methylation is a common post-translational modification; around 2% of arginine residues are methylated in rat liver nuclei (Boffa et al. 1977). Arginine can be methylated in 3 different ways...
    • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    • Regulation of retinoblastoma protein, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of retinoblastoma protein, organism-specific biosystem
      Regulation of retinoblastoma protein
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ39786

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    DNA-dependent ATPase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase I CORE element sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA PubMed 
    contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA PubMed 
    RNA polymerase II transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Tat protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    androgen receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to nucleosomal DNA binding HDA PubMed 
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription coactivator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP-dependent chromatin remodeling HDA PubMed 
    RNA polymerase I transcriptional preinitiation complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    chromatin organization TAS
    Traceable Author Statement
    more info
     
    chromatin remodeling IC
    Inferred by Curator
    more info
    PubMed 
    chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interleukin-7-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of androgen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    neural retina development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    nucleosome disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation by host of viral transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of glucose mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pri-miRNA transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    SWI/SNF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space HDA PubMed 
    membrane HDA PubMed 
    nBAF complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    npBAF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    npBAF complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear chromatin HDA PubMed 
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex HDA PubMed 
    Preferred Names
    transcription activator BRG1
    Names
    ATP-dependent helicase SMARCA4
    BRG1-associated factor 190A
    BRM/SWI2-related gene 1
    SNF2-beta
    SNF2-like 4
    brahma protein-like 1
    global transcription activator homologous sequence
    homeotic gene regulator
    mitotic growth and transcription activator
    nuclear protein GRB1
    protein BRG-1
    protein brahma homolog 1
    sucrose nonfermenting-like 4

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011556.2 RefSeqGene

      Range
      5211..106361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128844.1NP_001122316.1  transcription activator BRG1 isoform B

      See identical proteins and their annotated locations for NP_001122316.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to isoform 1. The resulting isoform (B, also known as 1) is shorter than isoform A. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC011485, AI695800, AK290033, CT005139
      Consensus CDS
      CCDS12253.1
      UniProtKB/Swiss-Prot
      P51532
      UniProtKB/TrEMBL
      A7E2E1
      Related
      ENSP00000395654.1, OTTHUMP00000265013, ENST00000429416.8, OTTHUMT00000452638
      Conserved Domains (8) summary
      cd05516
      Location:14581564
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    2. NM_001128845.1NP_001122317.1  transcription activator BRG1 isoform C

      See identical proteins and their annotated locations for NP_001122317.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons and uses an alternate splice site in the 3' coding region, compared to variant 1. The 5' UTR splice pattern has not been determined. The resulting protein (isoform C), also known as isoform 2, is shorter than isoform A.
      Source sequence(s)
      AC011485, AI695800, AK055168, EU430757
      Consensus CDS
      CCDS45972.1
      UniProtKB/Swiss-Prot
      P51532
      UniProtKB/TrEMBL
      B3KNW7
      Related
      ENSP00000414727.3, OTTHUMP00000240633, ENST00000413806.7, OTTHUMT00000403237
      Conserved Domains (8) summary
      cd05516
      Location:14281534
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    3. NM_001128846.1NP_001122318.1  transcription activator BRG1 isoform D

      See identical proteins and their annotated locations for NP_001122318.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons and uses two alternate splice sites in the 3' coding region, compared to variant 1. The 5' UTR splice pattern has not been determined. The resulting protein (isoform D), also known as isoform 4, is shorter than isoform A.
      Source sequence(s)
      AC011485, AI695800, AK055168, EU430758
      Consensus CDS
      CCDS45973.1
      UniProtKB/Swiss-Prot
      P51532
      UniProtKB/TrEMBL
      B3KNW7
      Related
      OTTHUMP00000240634, OTTHUMT00000403238
      Conserved Domains (8) summary
      cd05516
      Location:14281533
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    4. NM_001128847.1NP_001122319.1  transcription activator BRG1 isoform E

      See identical proteins and their annotated locations for NP_001122319.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The 5' UTR splice pattern has not been determined. The resulting protein (isoform E), also known as isoform 1, is shorter than isoform A.
      Source sequence(s)
      AC011485, AI695800, AK055168, EU430759
      Consensus CDS
      CCDS54217.1
      UniProtKB/Swiss-Prot
      P51532
      UniProtKB/TrEMBL
      B3KNW7
      Related
      ENSP00000466963.1, OTTHUMP00000240632, ENST00000590574.6, OTTHUMT00000403236
      Conserved Domains (8) summary
      cd05516
      Location:14251531
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    5. NM_001128848.1NP_001122320.1  transcription activator BRG1 isoform F

      See identical proteins and their annotated locations for NP_001122320.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate in-frame exons and uses an alternate splice site in the 3' coding region, compared to variant 1. The 5' UTR splice pattern has not been determined. The resulting protein (isoform F), also known as isoform 3, is shorter than isoform A.
      Source sequence(s)
      AC011485, AI695800, AK055168, EU430756
      Consensus CDS
      CCDS54218.1
      UniProtKB/Swiss-Prot
      P51532
      UniProtKB/TrEMBL
      B3KNW7
      Related
      OTTHUMP00000240635, OTTHUMT00000403239
      Conserved Domains (8) summary
      cd05516
      Location:14251530
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    6. NM_001128849.1NP_001122321.1  transcription activator BRG1 isoform A

      See identical proteins and their annotated locations for NP_001122321.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (A, also known as 2). There are no publicly available full-length transcripts representing the exon combination of this variant; it is based on mRNA annotation on DNA accession AF254822.1, which is derived from data in PMID:11085541.
      Source sequence(s)
      AC006127, AC011442, AC011485, AI695800
      UniProtKB/TrEMBL
      Q9HBD4
      Related
      ENSP00000397783.3, ENST00000450717.7
      Conserved Domains (8) summary
      cd05516
      Location:14901596
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    7. NM_003072.3NP_003063.2  transcription activator BRG1 isoform B

      See identical proteins and their annotated locations for NP_003063.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region compared to variant 1. The resulting isoform (B, also known as 1) is shorter than isoform A. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC011485, AI695800, BC150298, CT005139
      Consensus CDS
      CCDS12253.1
      UniProtKB/Swiss-Prot
      P51532
      UniProtKB/TrEMBL
      A7E2E1
      Related
      ENSP00000343896.4, OTTHUMP00000240631, ENST00000344626.9, OTTHUMT00000403235
      Conserved Domains (8) summary
      cd05516
      Location:14581564
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      10960922..11062282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722845.2XP_006722908.1  transcription activator BRG1 isoform X1

      See identical proteins and their annotated locations for XP_006722908.1

      UniProtKB/TrEMBL
      Q9HBD4
      Related
      ENSP00000495368.1, ENST00000646693.1
      Conserved Domains (8) summary
      cd05516
      Location:14901596
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    2. XM_024451659.1XP_024307427.1  transcription activator BRG1 isoform X2

      Conserved Domains (8) summary
      cd05516
      Location:14901595
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    3. XM_024451660.1XP_024307428.1  transcription activator BRG1 isoform X3

      Related
      ENSP00000496004.1, ENST00000643995.1
      Conserved Domains (8) summary
      cd05516
      Location:14611567
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    4. XM_024451662.1XP_024307430.1  transcription activator BRG1 isoform X5

      Conserved Domains (8) summary
      cd05516
      Location:14581563
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    5. XM_024451661.1XP_024307429.1  transcription activator BRG1 isoform X4

      Related
      ENSP00000496498.1, ENST00000642628.1
      Conserved Domains (8) summary
      cd05516
      Location:14571563
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    6. XM_024451663.1XP_024307431.1  transcription activator BRG1 isoform X6

      Conserved Domains (8) summary
      cd05516
      Location:14571562
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    7. XM_024451664.1XP_024307432.1  transcription activator BRG1 isoform X7

      Related
      ENSP00000496635.1, ENST00000643296.1
      Conserved Domains (8) summary
      cd05516
      Location:14281534
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    8. XM_024451665.1XP_024307433.1  transcription activator BRG1 isoform X8

      Related
      ENSP00000464778.1, ENST00000589677.5
      Conserved Domains (8) summary
      cd05516
      Location:14281533
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    9. XM_024451666.1XP_024307434.1  transcription activator BRG1 isoform X9

      Related
      ENSP00000494676.1, ENST00000647230.1
      Conserved Domains (8) summary
      cd05516
      Location:14251531
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    10. XM_024451667.1XP_024307435.1  transcription activator BRG1 isoform X10

      Related
      ENSP00000494463.1, ENST00000645460.1
      Conserved Domains (8) summary
      cd05516
      Location:14251530
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:12891356
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    11. XM_011528198.1XP_011526500.1  transcription activator BRG1 isoform X1

      See identical proteins and their annotated locations for XP_011526500.1

      UniProtKB/TrEMBL
      Q9HBD4
      Conserved Domains (8) summary
      cd05516
      Location:14901596
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    12. XM_024451658.1XP_024307426.1  transcription activator BRG1 isoform X1

      Conserved Domains (8) summary
      cd05516
      Location:14901596
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
    13. XM_006722846.2XP_006722909.1  transcription activator BRG1 isoform X1

      See identical proteins and their annotated locations for XP_006722909.1

      UniProtKB/TrEMBL
      Q9HBD4
      Conserved Domains (8) summary
      cd05516
      Location:14901596
      Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone ...
      smart00592
      Location:612656
      BRK; domain in transcription and CHROMO domain helicases
      smart00573
      Location:460532
      HSA; domain in helicases and associated with SANT domains
      pfam08880
      Location:171205
      QLQ; QLQ
      pfam09606
      Location:42222
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam14619
      Location:13221389
      SnAC; Snf2-ATP coupling, chromatin remodelling complex
      cl25732
      Location:370552
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26465
      Location:7501232
      SNF2_N; SNF2 family N-terminal domain
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