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    Actl6b actin-like 6B [ Mus musculus (house mouse) ]

    Gene ID: 83766, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Actl6bprovided by MGI
    Official Full Name
    actin-like 6Bprovided by MGI
    Primary source
    MGI:MGI:1933548
    See related
    Ensembl:ENSMUSG00000029712 AllianceGenome:MGI:1933548
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Actl6; ArpNa; Baf53b
    Summary
    Predicted to enable chromatin binding activity. Involved in nervous system development. Part of SWI/SNF complex and nBAF complex. Is expressed in nervous system and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 76. Orthologous to human ACTL6B (actin like 6B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 68.3), whole brain E14.5 (RPKM 63.6) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Actl6b in Genome Data Viewer
    Location:
    5 G2; 5 76.56 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (137551784..137567844)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (137553361..137569582)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:137974329-137974544 Neighboring gene STARR-positive B cell enhancer ABC_E1692 Neighboring gene microRNA 6418 Neighboring gene guanine nucleotide binding protein (G protein), beta 2 Neighboring gene predicted gene 17112 Neighboring gene transferrin receptor 2 Neighboring gene STARR-positive B cell enhancer ABC_E2180 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:138038199-138038386 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:138041904-138042125 Neighboring gene STARR-positive B cell enhancer ABC_E281 Neighboring gene motile sperm domain containing 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. BAF53b, a Neuron-Specific Nucleosome Remodeling Factor, Is Induced after Learning and Facilitates Long-Term Memory Consolidation. Yoo M, et al. J Neurosci, 2017 Mar 29. PMID 28270570, Free PMC Article
    2. Mutation of neuron-specific chromatin remodeling subunit BAF53b: rescue of plasticity and memory by manipulating actin remodeling. Vogel Ciernia A, et al. Learn Mem, 2017 May. PMID 28416631, Free PMC Article
    3. MicroRNA-mediated switching of chromatin-remodelling complexes in neural development. Yoo AS, et al. Nature, 2009 Jul 30. PMID 19561591, Free PMC Article
    4. Deleting HDAC3 rescues long-term memory impairments induced by disruption of the neuron-specific chromatin remodeling subunit BAF53b. Shu G, et al. Learn Mem, 2018 Mar. PMID 29449454, Free PMC Article
    5. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Wenderski W, et al. Proc Natl Acad Sci U S A, 2020 May 5. PMID 32312822, Free PMC Article

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Persistence of Fear Memory Depends on a Delayed Elevation of BAF53b and FGF1 Expression in the Lateral Amygdala.
      Title: Persistence of Fear Memory Depends on a Delayed Elevation of BAF53b and FGF1 Expression in the Lateral Amygdala.
    2. ACTL6B loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism
      Title: Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
    3. Results show that deleting HDAC3 can ameliorate the impairments in both long-term memory and synaptic plasticity caused by BAF53b mutation. This suggests a dynamic interplay exists between histone acetylation/deacetylation and nucleosome remodeling mechanisms in the regulation of memory formation.
      Title: Deleting HDAC3 rescues long-term memory impairments induced by disruption of the neuron-specific chromatin remodeling subunit BAF53b.
    4. This study demonstrated that Mutation of neuron-specific chromatin remodeling subunit BAF53b showed impairments in phosphorylation of synaptic cofilin, LTP, and memory.
      Title: Mutation of neuron-specific chromatin remodeling subunit BAF53b: rescue of plasticity and memory by manipulating actin remodeling.
    5. Using specific gene knockdown or overexpression approaches, we identify the critical role of BAF53b in the lateral amygdala neurons for memory consolidation during long-term memory formation.
      Title: BAF53b, a Neuron-Specific Nucleosome Remodeling Factor, Is Induced after Learning and Facilitates Long-Term Memory Consolidation.
    6. This study provided new insight into the role of dominant mutations in subunits of BAF complexes in human intellectual and cognitive disorders.
      Title: The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory.
    7. BAF53b is combinatorially assembled into polymorphic complexes with ubiquitous subunits including the two ATPases BRG1 and BRM
      Title: Identification of a polymorphic, neuron-specific chromatin remodeling complex.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within chromatin organization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in chromatin organization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in dendrite development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron maturation ISS
    Inferred from Sequence or Structural Similarity
    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 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 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 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 
    Component Evidence Code Pubs
    part_of GBAF complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of SWI/SNF complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of SWI/SNF superfamily-type complex IDA
    Inferred from Direct Assay
    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 
    located_in chromatin NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of nBAF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nBAF complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    actin-like protein 6B
    Names
    53 kDa BRG1-associated factor B
    BRG1-associated factor 53B
    actin-like 6
    actin-related protein Baf53b
    arpN-alpha

    NCBI Reference Sequences (RefSeq)

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    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_001425790.1 → NP_001412719.1  actin-like protein 6B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC148018

    2. NM_001425791.1 → NP_001412720.1  actin-like protein 6B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC148018

    3. NM_001425793.1 → NP_001412722.1  actin-like protein 6B isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC148018

    4. NM_031404.6 → NP_113581.1  actin-like protein 6B isoform 1

      See identical proteins and their annotated locations for NP_113581.1

      Status: VALIDATED

      Source sequence(s)
      AC148018
      Consensus CDS
      CCDS19770.1
      UniProtKB/Swiss-Prot
      Q54A88, Q99MR0
      UniProtKB/TrEMBL
      F8WI57
      Related
      ENSMUSP00000119356.2, ENSMUST00000139395.8
      Conserved Domains (1) summary
      pfam00022
      Location:11 → 426
      Actin

    RNA

    1. NR_189586.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC148018

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      137551784..137567844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321187.3 → XP_017176676.1  actin-like protein 6B isoform X4

      Conserved Domains (1) summary
      cl17037
      Location:1 → 298
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. XM_030254941.2 → XP_030110801.1  actin-like protein 6B isoform X5

      Conserved Domains (1) summary
      pfam00022
      Location:1 → 290
      Actin

    3. XM_006504640.4 → XP_006504703.1  actin-like protein 6B isoform X6

      See identical proteins and their annotated locations for XP_006504703.1

      Conserved Domains (1) summary
      cl17037
      Location:23 → 274
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    4. XM_006504639.4 → XP_006504702.1  actin-like protein 6B isoform X6

      See identical proteins and their annotated locations for XP_006504702.1

      Conserved Domains (1) summary
      cl17037
      Location:23 → 274
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    5. XM_006504636.4 → XP_006504699.1  actin-like protein 6B isoform X2

      See identical proteins and their annotated locations for XP_006504699.1

      Conserved Domains (1) summary
      pfam00022
      Location:1 → 353
      Actin

    6. XM_030254939.1 → XP_030110799.1  actin-like protein 6B isoform X3

      Conserved Domains (1) summary
      pfam00022
      Location:1 → 345
      Actin

    7. XM_006504638.4 → XP_006504701.1  actin-like protein 6B isoform X4

      Conserved Domains (1) summary
      cl17037
      Location:1 → 298
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    8. XM_030254946.1 → XP_030110806.1  actin-like protein 6B isoform X7

      Conserved Domains (1) summary
      cl17037
      Location:23 → 266
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    9. XM_030254943.2 → XP_030110803.1  actin-like protein 6B isoform X6

      Conserved Domains (1) summary
      cl17037
      Location:23 → 274
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    10. XM_006504637.5 → XP_006504700.1  actin-like protein 6B isoform X2

      See identical proteins and their annotated locations for XP_006504700.1

      Conserved Domains (1) summary
      pfam00022
      Location:1 → 353
      Actin

    11. XM_030254945.2 → XP_030110805.1  actin-like protein 6B isoform X7

      Conserved Domains (1) summary
      cl17037
      Location:23 → 266
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99MR0.1 GenPept UniProtKB/Swiss-Prot:Q99MR0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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