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    SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 [ Homo sapiens (human) ]

    Gene ID: 6599, updated on 17-Jun-2024

    Summary

    Official Symbol
    SMARCC1provided by HGNC
    Official Full Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1provided by HGNC
    Primary source
    HGNC:HGNC:11104
    See related
    Ensembl:ENSG00000173473 MIM:601732; AllianceGenome:HGNC:11104
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYC5; Rsc8; SRG3; SWI3; BAF155; CRACC1
    Summary
    The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 18.4), endometrium (RPKM 15.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SMARCC1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47585269..47781893, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47604348..47801082, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47626759..47823383, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47613774-47614274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47614275-47614775 Neighboring gene Sharpr-MPRA regulatory region 12920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47620980-47621684 Neighboring gene RNA, 7SL, cytoplasmic 870, pseudogene Neighboring gene uncharacterized LOC124906234 Neighboring gene chondroitin sulfate proteoglycan 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47710070-47710273 Neighboring gene small nucleolar RNA, C/D box 146 Neighboring gene HIGD2A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14313 Neighboring gene Sharpr-MPRA regulatory region 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:47844773-47845298 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47846226-47846422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47859072-47859572 Neighboring gene MPRA-validated peak4635 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47879089-47879907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47883235-47883741 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47888661-47888762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47893749-47894266 Neighboring gene DExH-box helicase 30 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47912431-47912931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19820 Neighboring gene microRNA 1226 Neighboring gene microtubule associated protein 4 Neighboring gene MPRA-validated peak4636 silencer Neighboring gene VPS26B pseudogene 1

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induces phosphorylation of BRG1 and BAF155 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    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 insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 cell population proliferation 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 positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    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 GBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 
    located_in XY body IEA
    Inferred from Electronic Annotation
    more info
     
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of nBAF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex HDA PubMed 

    General protein information

    Preferred Names
    SWI/SNF complex subunit SMARCC1
    Names
    BRG1-associated factor 155
    SWI/SNF complex 155 kDa subunit
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1
    chromatin remodeling complex BAF155 subunit
    mammalian chromatin remodeling complex BRG1-associated factor 155

    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.

    mRNA and Protein(s)

    1. NM_003074.4NP_003065.3  SWI/SNF complex subunit SMARCC1

      See identical proteins and their annotated locations for NP_003065.3

      Status: VALIDATED

      Source sequence(s)
      AC112512, BC012101, BC040242, BC050564
      Consensus CDS
      CCDS2758.1
      UniProtKB/Swiss-Prot
      Q17RS0, Q6P172, Q8IWH2, Q92922
      UniProtKB/TrEMBL
      Q58EY4
      Related
      ENSP00000254480.5, ENST00000254480.10
      Conserved Domains (5) summary
      COG5259
      Location:444710
      RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]
      pfam04433
      Location:452537
      SWIRM; SWIRM domain
      pfam16495
      Location:883954
      SWIRM-assoc_1; SWIRM-associated region 1
      pfam16496
      Location:32445
      SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
      pfam16498
      Location:706770
      SWIRM-assoc_3; SWIRM-associated domain at the C-terminal

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      47585269..47781893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      47604348..47801082 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)