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

Gene ID: 83766, updated on 11-Apr-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, Apr 2022]
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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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
  • 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. 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
  2. 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
  3. Persistence of Fear Memory Depends on a Delayed Elevation of BAF53b and FGF1 Expression in the Lateral Amygdala. Yoo M, et al. J Neurosci, 2020 Sep 9. PMID 32817243, Free PMC Article
  4. 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
  5. 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

See all (61) 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)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

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 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 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 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 
part_of 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

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