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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 18-Nov-2018

Summary

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

Genomic context

See SMARCA4 in Genome Data Viewer
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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 IDA
Inferred from Direct Assay
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 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 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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