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Aliases for ACTL6B Gene

Aliases for ACTL6B Gene

  • Actin Like 6B 2 3 5
  • 53 KDa BRG1-Associated Factor B 3 4
  • Actin-Related Protein Baf53b 3 4
  • BRG1-Associated Factor 53B 3 4
  • ArpNalpha 3 4
  • BAF53B 3 4
  • ACTL6 3 4
  • Actin-Like 6 2
  • HArpN Alpha 3

External Ids for ACTL6B Gene

Previous HGNC Symbols for ACTL6B Gene

  • ACTL6

Previous GeneCards Identifiers for ACTL6B Gene

  • GC07M099885
  • GC07M100078
  • GC07M100240
  • GC07M094873

Summaries for ACTL6B Gene

Entrez Gene Summary for ACTL6B Gene

  • 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]

GeneCards Summary for ACTL6B Gene

ACTL6B (Actin Like 6B) is a Protein Coding gene. Among its related pathways are Prostate Cancer and Transcription Ligand-dependent activation of the ESR1/SP pathway. GO annotations related to this gene include transcription coactivator activity and structural constituent of cytoskeleton. An important paralog of this gene is ACTR1B.

UniProtKB/Swiss-Prot for ACTL6B Gene

  • Belongs to the chromatin remodeling brain-specific BAF (bBAF) complex, as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex) and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity).

Gene Wiki entry for ACTL6B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTL6B Gene

Genomics for ACTL6B Gene

Regulatory Elements for ACTL6B Gene

Genomic Location for ACTL6B Gene

Chromosome:
7
Start:
100,643,097 bp from pter
End:
100,656,461 bp from pter
Size:
13,365 bases
Orientation:
Minus strand

Genomic View for ACTL6B Gene

Genes around ACTL6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL6B Gene

Proteins for ACTL6B Gene

  • Protein details for ACTL6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94805-ACL6B_HUMAN
    Recommended name:
    Actin-like protein 6B
    Protein Accession:
    O94805
    Secondary Accessions:
    • A4D2D0
    • O75421

    Protein attributes for ACTL6B Gene

    Size:
    426 amino acids
    Molecular mass:
    46877 Da
    Quaternary structure:
    • Component of the bBAF complex, which includes at least actin (ACTB), ARID1A/BAF250, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCC2/BAF170, SMARCD2/BAF60B and SMARCE1/BAF57. Note that the bBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. PBRM1 does not belong to bBAF complex. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity).
    SequenceCaution:
    • Sequence=AAC78795.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ACTL6B Gene

Proteomics data for ACTL6B Gene at MOPED

Post-translational modifications for ACTL6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL6B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ACTL6B Gene

Domains & Families for ACTL6B Gene

Protein Domains for ACTL6B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL6B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94805

UniProtKB/Swiss-Prot:

ACL6B_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL6B: view

No data available for Gene Families for ACTL6B Gene

Function for ACTL6B Gene

Molecular function for ACTL6B Gene

UniProtKB/Swiss-Prot Function:
Belongs to the chromatin remodeling brain-specific BAF (bBAF) complex, as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex) and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity).

Gene Ontology (GO) - Molecular Function for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 10380635
genes like me logo Genes that share ontologies with ACTL6B: view
genes like me logo Genes that share phenotypes with ACTL6B: view

Animal Models for ACTL6B Gene

MGI Knock Outs for ACTL6B:

Animal Model Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ACTL6B Gene

Localization for ACTL6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL6B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACTL6B Gene COMPARTMENTS Subcellular localization image for ACTL6B gene
Compartment Confidence
nucleus 5
cytosol 3
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ACTL6B Gene

Pathways & Interactions for ACTL6B Gene

genes like me logo Genes that share pathways with ACTL6B: view

Pathways by source for ACTL6B Gene

Gene Ontology (GO) - Biological Process for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with ACTL6B: view

No data available for SIGNOR curated interactions for ACTL6B Gene

Drugs & Compounds for ACTL6B Gene

No Compound Related Data Available

Transcripts for ACTL6B Gene

Unigene Clusters for ACTL6B Gene

Actin-like 6B:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL6B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3:

Relevant External Links for ACTL6B Gene

GeneLoc Exon Structure for
ACTL6B
ECgene alternative splicing isoforms for
ACTL6B

Expression for ACTL6B Gene

mRNA expression in normal human tissues for ACTL6B Gene

mRNA differential expression in normal tissues according to GTEx for ACTL6B Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.2), Brain - Cerebellum (x6.1), Brain - Cortex (x6.1), Brain - Frontal Cortex (BA9) (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for ACTL6B Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (37.1) and Fetal Brain (25.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACTL6B Gene



SOURCE GeneReport for Unigene cluster for ACTL6B Gene Hs.259831

genes like me logo Genes that share expression patterns with ACTL6B: view

Protein tissue co-expression partners for ACTL6B Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ACTL6B Gene

Orthologs for ACTL6B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTL6B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACTL6B 35
  • 93.82 (n)
  • 99.77 (a)
ACTL6B 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTL6B 35
  • 93.04 (n)
  • 99.77 (a)
ACTL6B 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACTL6B 35
  • 99.53 (n)
  • 100 (a)
ACTL6B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actl6b 35
  • 91.71 (n)
  • 99.77 (a)
mouse
(Mus musculus)
Mammalia Actl6b 16
Actl6b 36
  • 100 (a)
OneToOne
Actl6b 35
  • 92.33 (n)
  • 99.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ACTL6B 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTL6B 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTL6B 36
  • 82 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4364 35
zebrafish
(Danio rerio)
Actinopterygii actl6b 36
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bap55 36
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea swsn-6 36
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR105C 35
  • 44.19 (n)
  • 34.09 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02288g 35
  • 43.59 (n)
  • 33.85 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP4 35
  • 43.73 (n)
  • 34.02 (a)
ARP4 36
  • 26 (a)
OneToMany
ARP4 38
bread mold
(Neurospora crassa)
Ascomycetes NCU02555 35
  • 50.75 (n)
  • 40 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arp42 35
  • 44.22 (n)
  • 36.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
ManyToMany
CSA.5416 36
  • 60 (a)
ManyToMany
Species with no ortholog for ACTL6B:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ACTL6B Gene

ENSEMBL:
Gene Tree for ACTL6B (if available)
TreeFam:
Gene Tree for ACTL6B (if available)

Paralogs for ACTL6B Gene

Paralogs for ACTL6B Gene

(22) SIMAP similar genes for ACTL6B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACTL6B: view

Variants for ACTL6B Gene

Sequence variations from dbSNP and Humsavar for ACTL6B Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2231173 -- 100,650,262(-) TATGT(A/G)TGTGC intron-variant
rs2231174 -- 100,650,163(-) CCTGA(A/G)TCCTC intron-variant
rs2231175 -- 100,647,564(-) GCTAG(A/G)AAAGG intron-variant
rs2231176 -- 100,646,440(-) CAGAG(A/C)AGAAC intron-variant
rs2231177 -- 100,646,430(-) CCCCT(A/G)CCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACTL6B Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
nsv888779 CNV Loss 21882294
dgv7399n71 CNV Loss 21882294
nsv831072 CNV Loss 17160897
nsv888791 CNV Loss 21882294
nsv470381 CNV Loss 18288195
nsv8184 CNV Loss 18304495
nsv888792 CNV Loss 21882294

Variation tolerance for ACTL6B Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTL6B Gene

HapMap Linkage Disequilibrium report
ACTL6B
Human Gene Mutation Database (HGMD)
ACTL6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTL6B Gene

Disorders for ACTL6B Gene

Relevant External Links for ACTL6B

Genetic Association Database (GAD)
ACTL6B
Human Genome Epidemiology (HuGE) Navigator
ACTL6B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTL6B

No disorders were found for ACTL6B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACTL6B Gene

Publications for ACTL6B Gene

  1. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PMID: 9799793) Gloeckner G. … Rosenthal A. (Genome Res. 1998) 2 3 4 67
  2. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Seventy-five genetic loci influencing the human red blood cell. (PMID: 23222517) van der Harst P. … Chambers J.C. (Nature 2012) 3

Products for ACTL6B Gene

Sources for ACTL6B Gene

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