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Aliases for ACTL6B Gene

Aliases for ACTL6B Gene

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

External Ids for ACTL6B Gene

Previous Symbols for ACTL6B Gene

  • ACTL6

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. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTL6B Gene

ACTL6B (Actin-Like 6B) is a Protein Coding gene. Among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Prostate Cancer. GO annotations related to this gene include transcription coactivator activity and structural constituent of cytoskeleton. An important paralog of this gene is ACTL6A.

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

Genomic Location for ACTL6B Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACTL6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL6B Gene

Regulatory Elements 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
  • Ubiquitination at Lys418

Other Protein References for ACTL6B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL6B Gene

Domains for ACTL6B Gene

Protein Domains for ACTL6B Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

ACL6B_HUMAN
Family:
  • Belongs to the actin family.:
    • O94805
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:0003713 transcription coactivator activity NAS 8804307
GO:0005200 structural constituent of cytoskeleton TAS 10380635
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ACTL6B: view

Phenotypes for ACTL6B Gene

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

Animal Models for ACTL6B Gene

MGI Knock Outs for ACTL6B:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10380635
GO:0005730 nucleolus IDA --
GO:0016514 SWI/SNF complex ISS --
GO:0071565 nBAF complex ISS --
genes like me logo Genes that share ontologies with ACTL6B: view

Pathways for ACTL6B Gene

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

Pathways by source for ACTL6B Gene

1 BioSystems pathway for ACTL6B Gene

Gene Ontology (GO) - Biological Process for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization NAS 10380635
GO:0006338 chromatin remodeling IDA 11726552
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter NAS 8804307
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with ACTL6B: view

Transcripts for ACTL6B Gene

Unigene Clusters for ACTL6B Gene

Actin-like 6B:
Representative Sequences:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.2), Brain - Cerebellum (6.1), Brain - Cortex (6.1), Brain - Frontal Cortex (BA9) (5.4), Brain - Nucleus accumbens (basal ganglia) (4.3), and Brain - Anterior cingulate cortex (BA24) (4.2).

Integrated Proteomics: protein expression 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 expressions with ACTL6B: view

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
chimpanzee
(Pan troglodytes)
Mammalia ACTL6B 36
  • 99.53 (n)
  • 100 (a)
ACTL6B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTL6B 36
  • 93.82 (n)
  • 99.77 (a)
ACTL6B 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTL6B 36
  • 93.04 (n)
  • 99.77 (a)
ACTL6B 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Actl6b 36
  • 92.33 (n)
  • 99.77 (a)
Actl6b 16
Actl6b 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTL6B 37
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTL6B 37
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actl6b 36
  • 91.71 (n)
  • 99.77 (a)
lizard
(Anolis carolinensis)
Reptilia ACTL6B 37
  • 82 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4364 36
zebrafish
(Danio rerio)
Actinopterygii actl6b 37
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bap55 37
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea swsn-6 37
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR105C 36
  • 44.19 (n)
  • 34.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP4 36
  • 43.73 (n)
  • 34.02 (a)
ARP4 37
  • 26 (a)
OneToMany
ARP4 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02288g 36
  • 43.59 (n)
  • 33.85 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02555 36
  • 50.75 (n)
  • 40 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arp42 36
  • 44.22 (n)
  • 36.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 60 (a)
ManyToMany
CSA.5416 37
  • 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

Selected 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 MAF
rs2231166 -- 100,656,858(-) AAAAA(A/T)TTTTT upstream-variant-2KB
rs2231167 -- 100,656,590(-) GTGCC(C/T)CCTGC upstream-variant-2KB
rs2231168 -- 100,656,375(-) GGGCC(A/G)CTAGC utr-variant-5-prime, upstream-variant-2KB
rs2231169 -- 100,656,164(-) GCCCC(A/G)CGCGC intron-variant, upstream-variant-2KB
rs2231170 -- 100,655,651(-) TGTGG(A/G)GCTGG 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

Relevant External Links for ACTL6B Gene

HapMap Linkage Disequilibrium report
ACTL6B

Disorders for ACTL6B Gene

(1) University of Copenhagen DISEASES for ACTL6B Gene

Relevant External Links for ACTL6B

Genetic Association Database (GAD)
ACTL6B
Human Genome Epidemiology (HuGE) Navigator
ACTL6B
genes like me logo Genes that share disorders with ACTL6B: view

No data available for UniProtKB/Swiss-Prot 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
  2. Identification of a polymorphic, neuron-specific chromatin remodeling complex. (PMID: 12368262) Olave I. … Crabtree G.R. (Genes Dev. 2002) 3 4
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ACTL6B Gene

Sources for ACTL6B Gene

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