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    SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [ Homo sapiens (human) ]

    Gene ID: 6605, updated on 7-Apr-2024

    Summary

    Official Symbol
    SMARCE1provided by HGNC
    Official Full Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1provided by HGNC
    Primary source
    HGNC:HGNC:11109
    See related
    Ensembl:ENSG00000073584 MIM:603111; AllianceGenome:HGNC:11109
    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
    CSS5; BAF57
    Summary
    The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 61.3), ovary (RPKM 41.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SMARCE1 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40624962..40647818, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41489340..41512196, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38781214..38804070, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985090 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38716282-38716799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38720363-38721279 Neighboring gene C-C motif chemokine receptor 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12155 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38738644-38738789 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:38744874-38746073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12157 Neighboring gene Sharpr-MPRA regulatory region 2180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12162 Neighboring gene Sharpr-MPRA regulatory region 7873 Neighboring gene keratin 222 Neighboring gene uncharacterized LOC105371775 Neighboring gene keratin 224, pseudogene

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35648

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables nuclear receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to nucleosomal DNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling HDA PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleosome disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of myoblast differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of stem cell population maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of G0 to G1 transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of mitotic metaphase/anaphase transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of nucleotide-excision repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RSC-type complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of SWI/SNF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SWI/SNF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SWI/SNF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of bBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of brahma complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of chromatin HDA PubMed 
    part_of chromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of nBAF complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of nBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of npBAF complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of npBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear chromosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nuclear matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-containing complex HDA PubMed 

    General protein information

    Preferred Names
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
    Names
    BRG1-associated factor 57
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1
    chromatin remodeling complex BRG1-associated factor 57

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032163.1 RefSeqGene

      Range
      5001..25132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003079.5NP_003070.3  SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

      See identical proteins and their annotated locations for NP_003070.3

      Status: REVIEWED

      Source sequence(s)
      AC004585, AK095047, BC063700, BQ707908
      Consensus CDS
      CCDS11370.1
      UniProtKB/Swiss-Prot
      B3KMC1, B4DFR4, C0IMW4, C0IMW5, C0IMW7, H7C3F6, O43539, Q969G3
      UniProtKB/TrEMBL
      A0A2R8YES3
      Related
      ENSP00000323967.6, ENST00000348513.12
      Conserved Domains (3) summary
      PTZ00121
      Location:110411
      PTZ00121; MAEBL; Provisional
      COG3883
      Location:227320
      CwlO1; Uncharacterized N-terminal domain of peptidoglycan hydrolase CwlO [Function unknown]
      cd01390
      Location:70131
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      40624962..40647818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      41489340..41512196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)