ACTL6B Gene Summary [Human]

The protein encoded by this gene is a member of a family 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 subunit 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. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Details

Type
Protein Coding
Official Symbol
ACTL6B
Official Name
actin like 6B [Source:HGNC Symbol;Acc:HGNC:160]
Ensembl ID
ENSG00000077080
Bio databases IDs NCBI: 51412 Ensembl: ENSG00000077080
Aliases actin like 6B
Synonyms actin-like 6B, ACTL6, ArpNa, arpNalpha, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACTL6B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • structural constituent of cytoskeleton
  • Actin
  • protein binding
  • ASKHA_ATPase-like

Pathways

Biological processes and signaling networks where the ACTL6B gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • intellectual developmental disorder with severe speech and ambulation defects
  • early infantile epileptic encephalopathy type 76
  • schizophrenia
  • pervasive developmental disorder
  • major depression
  • hereditary disorder
  • epilepsy
  • mental retardation
  • hyperactive behavior
role in cell
  • formation
  • G2/M phase
  • development
  • remodeling
  • maturation
  • abnormal morphology
  • replication in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ACTL6B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of mitotic metaphase/anaphase transition
  • cytoskeleton organization
  • positive regulation of cell proliferation
  • nervous system development
  • neuron maturation
  • positive regulation of cell differentiation
  • positive regulation of myoblast differentiation
  • chromatin organization
  • regulation of nucleotide-excision repair
  • regulation of transcription from RNA polymerase II promoter
  • chromatin remodeling
  • negative regulation of cell differentiation
  • positive regulation of transcription, DNA-dependent
  • positive regulation of T cell differentiation
  • regulation of G1/S transition of mitotic cell cycle
  • positive regulation of double-strand break repair
  • regulation of G0 to G1 transition
  • dendrite development

Cellular Component

Where in the cell the gene product is active
  • SWI/SNF complex
  • nucleus
  • NuA4 histone acetyltransferase complex
  • nuclear matrix
  • brahma complex
  • nBAF complex
  • kinetochore
  • RSC complex
  • chromatin

Molecular Function

What the gene product does at the molecular level
  • transcription coactivator activity
  • structural constituent of cytoskeleton
  • chromatin binding

Gene-Specific Assays for Results You Can Trust

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