This gene encodes a family member 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 remod... See more...

Aliases for ACTL6A Gene

Aliases for ACTL6A Gene

  • Actin Like 6A 2 3 5
  • INO80 Complex Subunit K 2 3 4
  • 53 KDa BRG1-Associated Factor A 3 4
  • Actin-Related Protein Baf53a 3 4
  • BAF Complex 53 KDa Subunit 2 3
  • BRG1-Associated Factor 53A 3 4
  • Actin-Related Protein 4 2 3
  • Actin-Like Protein 6A 3 4
  • ArpNbeta 3 4
  • BAF53A 3 4
  • INO80K 3 4
  • BAF53 3 4
  • BRG1-Associated Factor 2
  • HArpN Beta 3
  • ARPN-BETA 3
  • ACTL6 3
  • Arp4 3

External Ids for ACTL6A Gene

Previous GeneCards Identifiers for ACTL6A Gene

  • GC03P180763
  • GC03P179280
  • GC03P176684

Summaries for ACTL6A Gene

Entrez Gene Summary for ACTL6A Gene

  • This gene encodes a family member 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 53 kDa subunit protein 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. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTL6A Gene

ACTL6A (Actin Like 6A) is a Protein Coding gene. Diseases associated with ACTL6A include Non-Specific Syndromic Intellectual Disability and Brachymorphism-Onychodysplasia-Dysphalangism Syndrome. Among its related pathways are Metabolism of proteins and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include chromatin binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ACTL6B.

UniProtKB/Swiss-Prot Summary for ACTL6A 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. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. 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 (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

Gene Wiki entry for ACTL6A Gene

Additional gene information for ACTL6A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTL6A Gene

Genomics for ACTL6A Gene

GeneHancer (GH) Regulatory Elements for ACTL6A Gene

Promoters and enhancers for ACTL6A 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
GH03J179562 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 523.1 +0.6 621 3 ZBTB40 ZNF217 CTCF TCF12 SIN3A MYC NRF1 POLR2G SP1 PHF8 ACTL6A PIK3CA MFN1 NDUFB5 lnc-MRPL47-3
GH03J179448 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -111.7 -111725 4.4 EP300 NRF1 PHF8 ZFX POLR2A ZBTB11 ZBTB26 RFX1 REST KLF4 GNB4 ENSG00000239255 ACTL6A MFN1 lnc-KCNMB3-3
GH03J179417 Enhancer 0.2 Ensembl 12 -145.3 -145279 1.2 MFN1 ACTL6A ZNF639 lnc-KCNMB3-3 GNB4
GH03J179534 Enhancer 0.2 Ensembl 5.7 -28.2 -28179 0.6 ACTL6A lnc-MRPL47-1
GH03J179546 Enhancer 0.8 Ensembl ENCODE 0.4 -15.9 -15912 1.1 ZFX ZBTB26 ZNF316 FOXA2 SAP130 MXD4 FOSL2 BCL6 NFE2 THRB ENSG00000239255 GNB4 ACTL6A lnc-MRPL47-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTL6A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTL6A

Top Transcription factor binding sites by QIAGEN in the ACTL6A gene promoter:
  • AhR
  • Arnt
  • CBF(2)
  • CUTL1
  • FOXI1
  • HFH-3
  • NF-Y
  • POU2F1
  • POU2F1a

Genomic Locations for ACTL6A Gene

Genomic Locations for ACTL6A Gene
chr3:179,562,880-179,588,407
(GRCh38/hg38)
Size:
25,528 bases
Orientation:
Plus strand
chr3:179,280,668-179,306,196
(GRCh37/hg19)
Size:
25,529 bases
Orientation:
Plus strand

Genomic View for ACTL6A Gene

Genes around ACTL6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL6A Gene

Proteins for ACTL6A Gene

  • Protein details for ACTL6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96019-ACL6A_HUMAN
    Recommended name:
    Actin-like protein 6A
    Protein Accession:
    O96019
    Secondary Accessions:
    • B3KMN1
    • D3DNR9
    • Q8TAE5
    • Q9BVS8
    • Q9H0W6

    Protein attributes for ACTL6A Gene

    Size:
    429 amino acids
    Molecular mass:
    47461 Da
    Quaternary structure:
    • Component of numerous complexes with chromatin remodeling and histone acetyltransferase activity. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6 (PubMed:12963728, PubMed:10966108, PubMed:15196461, PubMed:14966270). The NuA4 complex interacts with MYC and the adenovirus E1A protein (PubMed:11509179). Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41 (PubMed:11509179, PubMed:14966270). 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 (Probable). 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:9845365, PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. Component of the BAF53 complex, at least composed of ACTL6A/BAF53A, RUVBL1/TIP49, SMARCA2/BRM/BAF190B and TRRAP/PAF400, and which may also include a HAT activity related to, but distinct from, that of KAT5 (PubMed:11839798). Component of neural progenitors-specific chromatin remodeling complex (npBAF 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, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A (PubMed:29374058). 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:26601204). Interacts with SMARCA4/BRG1/BAF190A (PubMed:28649782). Interacts with PHF10/BAF45A (By similarity). Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the DBINO domain of INO80 (PubMed:16230350, PubMed:18026119, PubMed:18922472, PubMed:21303910). Interacts with DPF2 (PubMed:28533407).

    Alternative splice isoforms for ACTL6A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACTL6A Gene

Post-translational modifications for ACTL6A Gene

  • Ubiquitination at Lys62, Lys89, Lys112, Lys226, and Lys379
  • Modification sites at PhosphoSitePlus

Other Protein References for ACTL6A Gene

No data available for DME Specific Peptides for ACTL6A Gene

Domains & Families for ACTL6A Gene

Gene Families for ACTL6A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACTL6A Gene

Blocks:
  • Actin/actin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL6A Gene

GenScript: Design optimal peptide antigens:
  • INO80 complex subunit K (ACL6A_HUMAN)
  • Actin-like 6A, isoform CRA_b (D3DNS0_HUMAN)
  • BAF53A protein (Q6FI97_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96019

UniProtKB/Swiss-Prot:

ACL6A_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL6A: view

Function for ACTL6A Gene

Molecular function for ACTL6A 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. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. 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 (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

Phenotypes From GWAS Catalog for ACTL6A Gene

Gene Ontology (GO) - Molecular Function for ACTL6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA 16217013
GO:0003682 chromatin binding IBA,TAS 21873635
GO:0003713 transcription coactivator activity NAS 8804307
GO:0005515 protein binding IPI 18026119
genes like me logo Genes that share ontologies with ACTL6A: view
genes like me logo Genes that share phenotypes with ACTL6A: view

Animal Models for ACTL6A Gene

MGI Knock Outs for ACTL6A:

Animal Model Products

CRISPR Products

miRNA for ACTL6A Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL6A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACTL6A Gene

Localization for ACTL6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL6A 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 ACTL6A gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACTL6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin HDA 16217013
GO:0005634 nucleus IDA,IEA 18026119
GO:0005654 nucleoplasm TAS --
GO:0005886 plasma membrane IDA --
GO:0016514 SWI/SNF complex IBA,IDA 8804307
genes like me logo Genes that share ontologies with ACTL6A: view

Pathways & Interactions for ACTL6A Gene

genes like me logo Genes that share pathways with ACTL6A: view

Pathways by source for ACTL6A Gene

2 KEGG pathways for ACTL6A Gene
2 GeneGo (Thomson Reuters) pathways for ACTL6A Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Transcription Ligand-dependent activation of the ESR1/SP pathway

Gene Ontology (GO) - Biological Process for ACTL6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA --
GO:0003407 neural retina development IEP 18816825
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006325 chromatin organization IEA --
genes like me logo Genes that share ontologies with ACTL6A: view

No data available for SIGNOR curated interactions for ACTL6A Gene

Drugs & Compounds for ACTL6A Gene

No Compound Related Data Available

Transcripts for ACTL6A Gene

mRNA/cDNA for ACTL6A Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL6A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL6A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a ·
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6: - - -
SP7: -
SP8:
SP9: -
SP10:

ExUns: 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ACTL6A Gene

GeneLoc Exon Structure for
ACTL6A

Expression for ACTL6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTL6A Gene

Protein differential expression in normal tissues from HIPED for ACTL6A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.2) and CD8 Tcells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTL6A Gene



Protein tissue co-expression partners for ACTL6A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTL6A

SOURCE GeneReport for Unigene cluster for ACTL6A Gene:

Hs.435326

Evidence on tissue expression from TISSUES for ACTL6A Gene

  • Nervous system(4.7)
  • Skin(4.3)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ACTL6A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTL6A Gene

Orthologs for ACTL6A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTL6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTL6A 31 30
  • 99.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTL6A 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTL6A 31 30
  • 93.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACTL6A 31 30
  • 93.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTL6A 31
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actl6a 30
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Actl6a 17 31 30
  • 88.58 (n)
chicken
(Gallus gallus)
Aves ACTL6A 31 30
  • 85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTL6A 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actl6a 30
  • 80.34 (n)
MGC75671 30
zebrafish
(Danio rerio)
Actinopterygii actl6a 31 30
  • 77.54 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Bap55 31 30
  • 58.47 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008687 30
  • 55.05 (n)
worm
(Caenorhabditis elegans)
Secernentea swsn-6 31 30
  • 54.75 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP4 31
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ARP4 30
  • 53.48 (n)
rice
(Oryza sativa)
Liliopsida Os08g0137200 30
  • 52.68 (n)
corn
(Zea mays)
Liliopsida Zm.3254 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5416 31
  • 58 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
Species where no ortholog for ACTL6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACTL6A Gene

ENSEMBL:
Gene Tree for ACTL6A (if available)
TreeFam:
Gene Tree for ACTL6A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTL6A: view image

Paralogs for ACTL6A Gene

(21) SIMAP similar genes for ACTL6A Gene using alignment to 4 proteins:

  • ACL6A_HUMAN
  • C9JQT2_HUMAN
  • D3DNS0_HUMAN
  • H7C5S0_HUMAN

Pseudogenes.org Pseudogenes for ACTL6A Gene

genes like me logo Genes that share paralogs with ACTL6A: view

Variants for ACTL6A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTL6A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1035631360 Uncertain Significance: Delayed speech and language development; Global developmental delay. - 179,576,824(+) G/Cp.Glu227Gln MISSENSE_VARIANT
rs1553778576 Uncertain Significance: Delayed speech and language development; Global developmental delay 179,586,633(+) G/C SPLICE_DONOR_VARIANT
rs868064163 Likely Pathogenic: Inguinal hernia; Coarse facial features; Recurrent otitis media; Broad nasal tip; Torticollis; Delayed speech and language development; Syncope; Umbilical hernia; Atrial septal defect; Gastroesophageal reflux; Aplasia/Hypoplasia of the nails; Broad thumb; Cleft anterior mitral valve leaflet. - 179,586,552(+) C/Tp.Arg377Trp MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACTL6A Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTL6A Gene

Variant ID Type Subtype PubMed ID
nsv437900 CNV loss 16468122

Variation tolerance for ACTL6A Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTL6A Gene

Human Gene Mutation Database (HGMD)
ACTL6A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTL6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTL6A Gene

Disorders for ACTL6A Gene

MalaCards: The human disease database

(10) MalaCards diseases for ACTL6A Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
non-specific syndromic intellectual disability
  • complex neurodevelopmental disorder
brachymorphism-onychodysplasia-dysphalangism syndrome
  • bod syndrome
umbilical hernia
  • hernia, umbilical
torticollis
inguinal hernia
  • hernia inguinal
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACL6A_HUMAN
  • Note=ACTL6A mutations have been found in patients with intellectual disability of variable severity, developmental delay, dysmorphic features and digit abnormalities. Additional features may include genitourinary and cardiac defects. The disease phenotype resembles Coffin-Siris syndrome and brachymorphism-onychodysplasia-dysphalangism syndrome. {ECO:0000269 PubMed:28649782}.

Additional Disease Information for ACTL6A

genes like me logo Genes that share disorders with ACTL6A: view

No data available for Genatlas for ACTL6A Gene

Publications for ACTL6A Gene

  1. Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling. (PMID: 9845365) Zhao K … Crabtree GR (Cell 1998) 2 3 4 23 54
  2. Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues. (PMID: 10380635) Harata M … Mizuno S (Bioscience, biotechnology, and biochemistry 1999) 2 3 4 54
  3. Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes. (PMID: 29374058) Alpsoy A … Dykhuizen EC (The Journal of biological chemistry 2018) 3 4 54
  4. Histone-binding of DPF2 mediates its repressive role in myeloid differentiation. (PMID: 28533407) Huber FM … Hoelz A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4 54
  5. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. (PMID: 28649782) Marom R … Lee B (Human mutation 2017) 3 4 54

Products for ACTL6A Gene

  • Boster Bio Antibodies for ACTL6A
  • Boster Bio ELISA Kits for ACTL6A

Sources for ACTL6A Gene