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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 Transcription Ligand-dependent activation of the ESR1/SP pathway and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (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

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a postmitotic 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 postmitotic 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

GeneHancer (GH) Regulatory Elements for ACTL6B Gene

Promoters and enhancers for ACTL6B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100656 Promoter/Enhancer 1.4 EPDnew ENCODE 650.7 0.0 -32 0.2 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 SLC30A9 ZNF766 GLIS2 ZNF143 ZFP91 ACTL6B LOC105375429 GC07P100668
GH07J100514 Enhancer 1.1 Ensembl ENCODE 11.7 +140.7 140658 2.3 NCOA2 ZEB1 SCRT2 ATF7 FOS IKZF2 RUNX3 ZNF202 ZNF680 ZC3H11A GC07P100516 ZSCAN25 GIGYF1 SRRT STAG3L5P ZNF655 ENSG00000242798 ZNF3 TRIM4 PILRB
GH07J100913 Enhancer 0.8 ENCODE 11.6 -257.6 -257633 1.1 FOXA2 ZFP64 RAD21 YY1 ZNF213 EGR1 ZNF202 ZNF680 ZNF654 RXRA PIR59042 SRRT GIGYF1 STAG3L5P ENSG00000242798 ZNF3 TRIM4 PILRB AP4M1 PPP1R35
GH07J100395 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.2 +259.7 259655 2.1 HDGF PKNOX1 SMAD1 KLF17 STAT5A BMI1 YBX1 BATF IRF4 ATF7 PILRA PILRB ACTL6B GC07M100182 MEPCE
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTL6B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTL6B gene promoter:
  • Zic3
  • Egr-4
  • CUTL1
  • HOXA5
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • LUN-1

Genomic Locations for ACTL6B Gene

Genomic Locations for ACTL6B Gene
chr7:100,643,097-100,656,461
(GRCh38/hg38)
Size:
13,365 bases
Orientation:
Minus strand
chr7:100,240,720-100,254,084
(GRCh37/hg19)
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 multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:22952240, PubMed:26601204). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:22952240, PubMed:26601204). Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A or SMARCD2/BAF60B or SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (ACTB). Note that the nBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204).
    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

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:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a postmitotic 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 postmitotic 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL6B

Clone 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
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 IEA,ISS --
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 by RNA polymerase II 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

mRNA/cDNA for ACTL6B Gene

Unigene Clusters for ACTL6B Gene

Actin-like 6B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL6B

Clone 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 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 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

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 34 33
  • 93.82 (n)
OneToOne
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 36 34 33
  • 43.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02288g 33
  • 43.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5416 34
  • 60 (a)
ManyToMany
-- 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTL6B: view image

Paralogs for ACTL6B Gene

Paralogs for ACTL6B Gene

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

  • ACL6B_HUMAN
  • C9JQT4_HUMAN
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 Variation AA Info Type
rs1060499738 likely-pathogenic, Global developmental delay, Intellectual disability 100,647,014(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000040489 -- 100,655,308(-) G/C intron_variant
rs1000100063 -- 100,648,790(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000948770 -- 100,648,022(-) C/T intron_variant
rs1000994915 -- 100,655,222(-) A/G intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for ACTL6B

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

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 58
  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 44 58
  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 58
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for ACTL6B Gene

Sources for ACTL6B Gene

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