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

Summary

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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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

MARC_5081-5082:996690120:1 (e-PCR)
- UniSTS:269451

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)

NM_001425790.1 → NP_001412719.1 actin-like protein 6B isoform 2

Status: VALIDATED

Source sequence(s)

AC148018
NM_001425791.1 → NP_001412720.1 actin-like protein 6B isoform 3

Status: VALIDATED

Source sequence(s)

AC148018
NM_001425793.1 → NP_001412722.1 actin-like protein 6B isoform 4

Status: VALIDATED

Source sequence(s)

AC148018
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

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

137551784..137567844

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam00022
Location:1 → 290

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

Conserved Domains (1) summary

pfam00022
Location:1 → 345

Actin
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
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
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
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
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