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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 Protein 6B 3
  • 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 Chromatin organization 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 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

Additional gene information for ACTL6B Gene

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

Genomics for ACTL6B Gene

Regulatory Elements for ACTL6B Gene

Enhancers for ACTL6B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H100514 1.1 Ensembl ENCODE 11.7 +140.7 140659 2 TBL1XR1 ZEB1 SCRT2 FOS ATF7 RUNX3 IKZF2 ZNF202 ZNF680 ZC3H11A SRRT ZSCAN25 GIGYF1 AP4M1 ENSG00000242798 STAG3L5P ZSCAN21 ZNF655 ZNF3 TRIM4
GH07H100913 0.8 ENCODE 11.6 -257.6 -257633 1 FOXA2 ZFP64 RAD21 YY1 ZNF202 ZNF654 ZNF680 ZC3H11A REST ZNF518A SRRT GIGYF1 AP4M1 STAG3L5P ENSG00000242798 ZNF3 TRIM4 ZSCAN21 PPP1R35 PILRB
GH07H100395 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.2 +259.7 259656 2 HDGF PKNOX1 TBL1XR1 KLF17 BMI1 YBX1 BATF ATF7 ETV6 RUNX3 PILRA PILRB ACTL6B GC07M100182 MEPCE
GH07H100656 1 ENCODE 0.7 0.0 -32 0 PKNOX1 ARID4B SIN3A ZNF2 SLC30A9 ZNF766 GLIS2 ELK1 ZNF143 FOS ACTL6B GC07P100668
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACTL6B on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for ACTL6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL6B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL6B Gene

Domains & Families for ACTL6B Gene

Gene Families for ACTL6B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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).

Phenotypes From GWAS Catalog for ACTL6B Gene

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
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACTL6B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTL6B gene
Compartment Confidence
nucleus 5
cytosol 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10380635
GO:0005730 nucleolus IDA --
GO:0016514 SWI/SNF complex ISS,IEA --
GO:0070603 SWI/SNF superfamily-type complex IEA --
GO:0071565 nBAF complex IEA,ISS --
genes like me logo Genes that share ontologies with ACTL6B: view

Pathways & Interactions for ACTL6B Gene

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

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter NAS 8804307
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACTL6B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ACTL6B Gene

NURSA nuclear receptor signaling pathways regulating expression of ACTL6B Gene:

ACTL6B

SOURCE GeneReport for Unigene cluster for ACTL6B Gene:

Hs.259831

Evidence on tissue expression from TISSUES for ACTL6B Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ACTL6B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ACTL6B 34 33
  • 99.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTL6B 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTL6B 33 34
  • 93.82 (n)
dog
(Canis familiaris)
Mammalia ACTL6B 34 33
  • 93.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Actl6b 16 34 33
  • 92.33 (n)
rat
(Rattus norvegicus)
Mammalia Actl6b 33
  • 91.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACTL6B 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTL6B 34
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii actl6b 34
  • 86 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4364 33
fruit fly
(Drosophila melanogaster)
Insecta Bap55 34
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea swsn-6 34
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR105C 33
  • 44.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP4 34 36 33
  • 43.73 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02288g 33
  • 43.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
ManyToMany
CSA.5416 34
  • 60 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02555 33
  • 50.75 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arp42 33
  • 44.22 (n)
Species where no ortholog for ACTL6B was found in the sources mined by GeneCards:
  • 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
rs1000040489 -- 100,655,308(+) AGCCA(C/G)AAGAA intron-variant, upstream-variant-2KB
rs1000100063 -- 100,648,790(+) CTGTC(C/T)AGCAC nc-transcript-variant, reference, synonymous-codon
rs1000948770 -- 100,648,022(+) TGGCG(C/T)GATCT intron-variant
rs1000994915 -- 100,655,222(+) CAGTG(A/G)GTCCA intron-variant, upstream-variant-2KB
rs1001048655 -- 100,654,623(+) TAAAA(A/G)TACAA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv3614301 CNV loss 21293372
nsv470381 CNV loss 18288195
nsv607933 CNV gain 21841781
nsv607934 CNV gain 21841781
nsv8184 CNV loss 18304495
nsv831072 CNV loss 17160897
nsv951386 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
ACTL6B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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) Glöckner G … Rosenthal A (Genome research 1998) 2 3 4 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60

Products for ACTL6B Gene

Sources for ACTL6B Gene

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