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    ACTL6A actin like 6A [ Homo sapiens (human) ]

    Gene ID: 86, updated on 28-Oct-2024

    Summary

    Official Symbol
    ACTL6Aprovided by HGNC
    Official Full Name
    actin like 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:24124
    See related
    Ensembl:ENSG00000136518 MIM:604958; AllianceGenome:HGNC:24124
    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
    Arp4; ACTL6; BAF53A; INO80K; SMARCN1; ARPN-BETA
    Summary
    This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 36.4), endometrium (RPKM 16.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ACTL6A in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179562926..179588407)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182366765..182392246)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179280714..179306195)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein subunit beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:179178405-179178606 Neighboring gene translation machinery-associated protein 7-like Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:179244611-179245161 Neighboring gene Sharpr-MPRA regulatory region 7561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14921 Neighboring gene uncharacterized LOC124909462 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179321716-179322582 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179322583-179323449 Neighboring gene mitochondrial ribosomal protein L47 Neighboring gene small nucleolar RNA U13 Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 Neighboring gene H3 histone pseudogene 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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-activated transcription induces phosphorylation of Baf53 PubMed
    tat The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell 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

    Potential readthrough

    Included gene: MRPL47

    Clone Names

    • MGC5382

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin 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 DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling HDA PubMed 
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IC
    Inferred by Curator
    more info
    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 cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neural retina development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    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 double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    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 telomere maintenance in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA strand elongation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription 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 apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of GBAF complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of Ino80 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    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 
    part_of brahma complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in chromatin HDA PubMed 
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of npBAF complex IDA
    Inferred from Direct Assay
    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 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
     
    part_of nucleosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nucleosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-containing complex HDA PubMed 

    General protein information

    Preferred Names
    actin-like protein 6A
    Names
    53 kDa BRG1-associated factor A
    BAF complex 53 kDa subunit
    BAF53
    BRG1-associated factor 53A
    INO80 complex subunit K
    actin-related protein 4
    actin-related protein Baf53a
    arpNbeta
    hArpN beta

    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_004301.5NP_004292.1  actin-like protein 6A isoform 1

      See identical proteins and their annotated locations for NP_004292.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a), which is also referred to as hArpNbeta/Baf53. Isoform a is found mostly in the nucleus.
      Source sequence(s)
      AC090425, BC036371, DB041143
      Consensus CDS
      CCDS3231.1
      UniProtKB/Swiss-Prot
      B3KMN1, D3DNR9, O96019, Q8TAE5, Q9BVS8, Q9H0W6
      UniProtKB/TrEMBL
      Q53FS0
      Related
      ENSP00000397552.2, ENST00000429709.7
      Conserved Domains (1) summary
      pfam00022
      Location:11429
      Actin
    2. NM_177989.4NP_817126.1  actin-like protein 6A isoform 2

      See identical proteins and their annotated locations for NP_817126.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region that results in the use of a downstream start codon, compared to variant 1. Variants 2 and 3 both encode isoform b, which has a shorter N-terminus when compared to isoform a. This variant is also known as Nbeta2 and isoform b is also known as hArpNbetaS. Isoform b is found mostly in the cytoplasm.
      Source sequence(s)
      AC090425, BC000949, BC036371, DB041143
      Consensus CDS
      CCDS43174.1
      UniProtKB/TrEMBL
      Q53FS0
      Related
      ENSP00000394014.2, ENST00000450518.6
      Conserved Domains (1) summary
      pfam00022
      Location:17387
      Actin
    3. NM_178042.4NP_829888.1  actin-like protein 6A isoform 2

      See identical proteins and their annotated locations for NP_829888.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region that results in the use of a downstream start codon, compared to variant 1. Variants 2 and 3 both encode isoform b, which has a shorter N-terminus when compared to isoform a. This variant is also known as Nbeta3 and isoform b is also known as hArpNbetaS. Isoform b is found mostly in the cytoplasm.
      Source sequence(s)
      AA256726, AB061315, AC090425, BC036371, DB041143
      Consensus CDS
      CCDS43174.1
      UniProtKB/TrEMBL
      Q53FS0
      Related
      ENSP00000376430.1, ENST00000392662.5
      Conserved Domains (1) summary
      pfam00022
      Location:17387
      Actin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      179562926..179588407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182366765..182392246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)