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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 11-Jul-2015
    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; HPRD:02055; MIM:300012; Vega:OTTHUMG00000022370
    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; 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]
    Orthologs
    See SMARCA1 in Epigenomics, MapViewer
    Location:
    Xq25
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (129446501..129523513, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128580478..128657490, 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 oculocerebrorenal syndrome of Lowe Neighboring gene apelin

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ41547, DKFZp686D1623

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to DNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    annealing helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleosome binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to nucleosome-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP-dependent chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA strand renaturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    CERF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NURF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      4979..81983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282874.1NP_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, DR002115, HY043725
      Consensus CDS
      CCDS76019.1
      UniProtKB/TrEMBL
      B7ZLQ5
      Related
      ENSP00000360162, OTTHUMP00000275642, ENST00000371121, OTTHUMT00000476385
      Conserved Domains (7) summary
      PLN03142
      Location:871069
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd00046
      Location:203342
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:477620
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cd00167
      Location:859898
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam09110
      Location:758838
      HAND; HAND
      pfam09111
      Location:9131027
      SLIDE; SLIDE
      pfam13892
      Location:71110
      DBINO; DNA-binding domain
    2. NM_001282875.1NP_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, DR002115, HY043725
      Consensus CDS
      CCDS76018.1
      UniProtKB/TrEMBL
      A0A0A0MRP6
      UniProtKB/Swiss-Prot
      P28370
      Related
      ENSP00000360164, OTTHUMP00000275641, ENST00000371123, OTTHUMT00000476384
      Conserved Domains (7) summary
      PLN03142
      Location:871057
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd00046
      Location:203342
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:477608
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cd00167
      Location:847886
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam09110
      Location:746826
      HAND; HAND
      pfam09111
      Location:9011015
      SLIDE; SLIDE
      pfam13892
      Location:71110
      DBINO; DNA-binding domain
    3. NM_003069.4NP_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, DR002115, HY043725
      Consensus CDS
      CCDS14612.1
      UniProtKB/Swiss-Prot
      P28370
      Related
      ENSP00000360163, OTTHUMP00000023984, ENST00000371122, OTTHUMT00000058206
      Conserved Domains (8) summary
      smart00717
      Location:857898
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00046
      Location:203342
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:477620
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cd00167
      Location:859898
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00176
      Location:186466
      SNF2_N; SNF2 family N-terminal domain
      pfam09110
      Location:758838
      HAND; HAND
      pfam09111
      Location:9131027
      SLIDE; SLIDE
      pfam13892
      Location:71110
      DBINO; DNA-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      129446501..129523513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724782.1XP_006724845.1  

      See identical proteins and their annotated locations for XP_006724845.1

      UniProtKB/Swiss-Prot
      P28370
      Conserved Domains (8) summary
      smart00717
      Location:845886
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00046
      Location:203342
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:477608
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cd00167
      Location:847886
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00176
      Location:186466
      SNF2_N; SNF2 family N-terminal domain
      pfam09110
      Location:746826
      HAND; HAND
      pfam09111
      Location:9011015
      SLIDE; SLIDE
      pfam13892
      Location:71110
      DBINO; DNA-binding domain
    2. XM_005262462.1XP_005262519.1  

      See identical proteins and their annotated locations for XP_005262519.1

      Conserved Domains (8) summary
      smart00717
      Location:857898
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00046
      Location:203342
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:477620
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cd00167
      Location:859898
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00176
      Location:186466
      SNF2_N; SNF2 family N-terminal domain
      pfam09110
      Location:758838
      HAND; HAND
      pfam09111
      Location:9131027
      SLIDE; SLIDE
      pfam13892
      Location:71110
      DBINO; DNA-binding domain
    3. XM_005262461.1XP_005262518.1  

      See identical proteins and their annotated locations for XP_005262518.1

      UniProtKB/Swiss-Prot
      P28370
      Conserved Domains (8) summary
      smart00717
      Location:857898
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00046
      Location:203342
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:477620
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      cd00167
      Location:859898
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00176
      Location:186466
      SNF2_N; SNF2 family N-terminal domain
      pfam09110
      Location:758838
      HAND; HAND
      pfam09111
      Location:9131027
      SLIDE; SLIDE
      pfam13892
      Location:71110
      DBINO; DNA-binding domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      128491871..128568846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.