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    SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [ Homo sapiens (human) ]

    Gene ID: 6594, updated on 22-Aug-2021

    Summary

    Official Symbol
    SMARCA1provided by HGNC
    Official Full Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1provided by HGNC
    Primary source
    HGNC:HGNC:11097
    See related
    Ensembl:ENSG00000102038 MIM:300012
    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
    SWI; ISWI; SWI2; SNF2L; SNF2L1; SNF2LB; SNF2LT; hSNF2L; NURF140
    Summary
    This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Broad expression in adrenal (RPKM 46.7), testis (RPKM 43.0) and 22 other tissues See more
    Orthologs
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    Genomic context

    See SMARCA1 in Genome Data Viewer
    Location:
    Xq25-q26.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (129446501..129523520, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128580483..128657467, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 56 Neighboring gene RNA, 5S ribosomal pseudogene 513 Neighboring gene Sharpr-MPRA regulatory region 13828 Neighboring gene OCRL inositol polyphosphate-5-phosphatase Neighboring gene apelin

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ41547, DKFZp686D1623

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent DNA/DNA annealing activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ATP-dependent chromatin remodeler activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleosome binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of CERF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NURF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable global transcription activator SNF2L1
    Names
    ATP-dependent helicase SMARCA1
    SNF2-like 1
    global transcription activator homologous sequence
    nucleosome-remodeling factor subunit SNF2L
    sucrose nonfermenting 2-like protein 1

    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_012526.1 RefSeqGene

      Range
      4994..81978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282874.2NP_001269803.1  probable global transcription activator SNF2L1 isoform d

      See identical proteins and their annotated locations for NP_001269803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (d).
      Source sequence(s)
      BC143954, BQ006393, HY043725
      Consensus CDS
      CCDS76019.1
      UniProtKB/TrEMBL
      B7ZLQ5
      Related
      ENSP00000360162.4, ENST00000371121.5
      Conserved Domains (1) summary
      PLN03142
      Location:871069
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    2. NM_001282875.2NP_001269804.1  probable global transcription activator SNF2L1 isoform c

      See identical proteins and their annotated locations for NP_001269804.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. It encodes isoform c, which lacks an internal segment and is shorter, compared to isoform d.
      Source sequence(s)
      BC117447, BC143955, BQ006393, HY043725
      Consensus CDS
      CCDS76018.1
      UniProtKB/Swiss-Prot
      P28370
      UniProtKB/TrEMBL
      A0A0A0MRP6
      Related
      ENSP00000360164.2, ENST00000371123.5
      Conserved Domains (1) summary
      PLN03142
      Location:871057
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    3. NM_001378261.1NP_001365190.1  probable global transcription activator SNF2L1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL022577, AL138745
      Conserved Domains (1) summary
      PLN03142
      Location:871046
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    4. NM_001378262.1NP_001365191.1  probable global transcription activator SNF2L1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL022577, AL138745
      Related
      ENST00000617310.4
      Conserved Domains (1) summary
      PLN03142
      Location:871034
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    5. NM_001378263.1NP_001365192.1  probable global transcription activator SNF2L1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL022577, AL138745
      Conserved Domains (1) summary
      PLN03142
      Location:871034
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    6. NM_001378264.1NP_001365193.1  probable global transcription activator SNF2L1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL022577, AL138745
      Conserved Domains (1) summary
      PLN03142
      Location:871034
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    7. NM_003069.5NP_003060.2  probable global transcription activator SNF2L1 isoform a

      See identical proteins and their annotated locations for NP_003060.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR and uses two alternate splice sites in the 3' coding region, resulting in an early stop codon, compared to variant 4. It encodes isoform a, which has a shorter and distinct C-terminus, compared to isoform d.
      Source sequence(s)
      BC117447, BQ006393, HY043725
      Consensus CDS
      CCDS14612.1
      UniProtKB/Swiss-Prot
      P28370
      Related
      ENSP00000360163.4, ENST00000371122.8
      Conserved Domains (1) summary
      PLN03142
      Location:871046
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      129446501..129523520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262461.2XP_005262518.1  probable global transcription activator SNF2L1 isoform X1

      See identical proteins and their annotated locations for XP_005262518.1

      UniProtKB/Swiss-Prot
      P28370
      Conserved Domains (1) summary
      PLN03142
      Location:871046
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139035.2: Suppressed sequence

      Description
      NM_139035.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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