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ACTL6A Gene

protein-coding   GIFtS: 61
GCID: GC03P179280

Actin-Like 6A

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Actin-Like 6A1 2     BRG1-Associated Factor 53A2 3
INO80 Complex Subunit K1 2 3     BRG1-Associated Factor1
BAF532 3 5     ACTL62
BAF53A2 3 5     ARPN-BETA2
Actin-Related Protein 41 2     Arp42
BAF Complex 53 KDa Subunit1 2     Actin-Like Protein 6A2
Actin-Related Protein Baf53a2 3     arpNbeta2
53 KDa BRG1-Associated Factor A2 3     HArpN Beta2
INO80K2 3     ArpNbeta3

External Ids:    HGNC: 241241   Entrez Gene: 862   Ensembl: ENSG000001365187   OMIM: 6049585   UniProtKB: O960193   

Export aliases for ACTL6A gene to outside databases

Previous GC identifers: GC03P180763 GC03P176684


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include transcription coactivator activity and chromatin binding. An important paralog of this gene is ACTL6B.

UniProtKB/Swiss-Prot: ACL6A_HUMAN, O96019
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). 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 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 (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. Also involved in vitamin D-coupled transcription regulation via its association
with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required
for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTL6A gene promoter:
         AhR   HFH-3   CUTL1   Arnt   FOXI1   POU2F1   POU2F1a   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTL6A promoter sequence
   Search Chromatin IP Primers for ACTL6A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTL6A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.33   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q26.33

ACTL6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTL6A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P179280:  view genomic region     (about GC identifiers)

Start:
179,280,668 bp from pter      End:
179,306,196 bp from pter
Size:
25,529 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACL6A_HUMAN, O96019 (See protein sequence)
Recommended Name: Actin-like protein 6A  
Size: 429 amino acids; 47461 Da
Subunit: 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. The NuA4 complex interacts with MYC and
the adenovirus E1A protein. 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. Component of
the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A,
ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of
SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. 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. ACTL6A interacts with
SMARCA4/BRG1/BAF190A. Component of the chromatin remodeling INO80 complex; specifically part of a complex module
associated with the DBINO domain of INO80. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4,
SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. 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. Interacts with PHF10/BAF45A
(By similarity)
Secondary accessions: B3KMN1 D3DNR9 Q8TAE5 Q9BVS8 Q9H0W6
Alternative splicing: 2 isoforms:  O96019-1   O96019-2   

Explore the universe of human proteins at neXtProt for ACTL6A: NX_O96019

Explore proteomics data for ACTL6A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62, Lys89, Lys112, Lys226, Lys379, Lys421
  • Modification sites at PhosphoSitePlus

  • See ACTL6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004292.1  NP_817126.1  NP_829888.1  

    ENSEMBL proteins: 
     ENSP00000397552   ENSP00000394014   ENSP00000420153   ENSP00000420694   ENSP00000376430  
    Reactome Protein details: O96019

    ACTL6A Human Recombinant Protein Products:

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    antibodies-online peptides for ACTL6A

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    INO80: INO80 complex subunits

    2 InterPro protein domains:
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry O96019

    ProtoNet protein and cluster: O96019

    1 Blocks protein domain: IPB004000 Actin/actin-like

    UniProtKB/Swiss-Prot: ACL6A_HUMAN, O96019
    Similarity: Belongs to the actin family


    Find genes that share domains with ACTL6A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACL6A_HUMAN, O96019
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). 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 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 (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. Also involved in vitamin D-coupled transcription regulation via its association
    with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required
    for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Putative core component of the chromatin
    remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI18026119
         
    Find genes that share ontologies with ACTL6A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACTL6A:
     Decreased cilium length after   Increased circadian period len 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Actl6a):
     cellular  hematopoietic system  immune system  mortality/aging 

    Find genes that share phenotypes with ACTL6A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Actl6atm1.2Grc for ACTL6A

       genOway: Develop your customized and physiologically relevant rodent model for ACTL6A

    miRNA
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    Block miRNA regulation of human, mouse, rat ACTL6A using miScript Target Protectors
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    hsa-miR-3163 hsa-miR-4324 hsa-miR-320a hsa-miR-34b* hsa-miR-1283 hsa-miR-320d hsa-miR-519c-3p hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidACTL6A 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACL6A_HUMAN, O96019: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane4
    cytosol3
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18026119
    GO:0005654nucleoplasm TAS--
    GO:0005886plasma membrane IDA--
    GO:0016514SWI/SNF complex IDA11078522
    GO:0031011Ino80 complex IDA18026119

    Find genes that share ontologies with ACTL6A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACTL6A About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Transcription Ligand dependent activation of the ESR1 SP pathway
    Transcription Ligand dependent activation of the ESR1 SP pathway0.37
    Development Ligand dependent activation of the ESR1 AP 1 pathway0.37
    3Prostate Cancer
    Prostate Cancer0.32
    4Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation
    5TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway


    Find genes that share SuperPaths with ACTL6A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5 BioSystems Pathways for ACTL6A
        Gastric cancer network 1
    TNF-alpha/NF-kB Signaling Pathway
    Prostate Cancer
    Validated targets of C-MYC transcriptional activation
    C-MYC pathway


    1 Reactome Pathway for ACTL6A
        HATs acetylate histones


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACTL6A
    Interactions:

        Search GeneGlobe Interaction Network for ACTL6A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACTL6A (O960191, 2, 3 ENSP000003975524) via UniProtKB, MINT, STRING, and/or I2D (see all 1018)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YY1P254901, 2, 3, ENSP000002622384EBI-355018,EBI-765538 MINT-7945693 I2D: score=1 STRING: ENSP00000262238
    DMAP1Q9NPF52, 3, ENSP000003126974MINT-7945693 MINT-7947479 I2D: score=5 STRING: ENSP00000312697
    RUVBL2Q9Y2302, 3, ENSP000002214134MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000221413
    SMARCB1Q128242, 3, ENSP000002631214MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000263121
    RELBQ012012, 3, ENSP000002214524MINT-49026 MINT-48012 I2D: score=2 STRING: ENSP00000221452
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003407neural retina development IEP18816825
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006325chromatin organization TAS--
    GO:0006338chromatin remodeling IDA11726552

    Find genes that share ontologies with ACTL6A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACTL6A (ACL6A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for ACTL6A gene (3 alternative transcripts): 
    NM_004301.3  NM_177989.2  NM_178042.2  

    Unigene Cluster for ACTL6A:

    Actin-like 6A
    Hs.435326  [show with all ESTs]
    Unigene Representative Sequence: NM_178042
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429709(uc003fjw.3) ENST00000450518(uc003fjx.3) ENST00000491202
    ENST00000468767 ENST00000494843 ENST00000490364 ENST00000487978 ENST00000486471
    ENST00000467383 ENST00000467615 ENST00000479056 ENST00000484312 ENST00000461125
    ENST00000392662(uc003fjy.3)
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      QuantiFast Probe-based Assays in human, mouse, rat ACTL6A

    Additional mRNA sequence: 

    AB015907.1 AB060168.1 AB061315.1 AF041474.1 AK021756.1 AK098691.1 AK223212.1 AL136608.1 
    BC000949.2 BC001391.2 BC035463.1 BC036371.1 CR533529.1 

    24 DOTS entries:

    DT.100644276  DT.97854874  DT.97854877  DT.100677949  DT.99974241  DT.75153580  DT.100677955  DT.100677947 
    DT.120844898  DT.91771219  DT.91948208  DT.91735736  DT.99977438  DT.120844893  DT.75195352  DT.100030183 
    DT.100677952  DT.120844830  DT.120844841  DT.91900106  DT.92018212  DT.97787640  DT.100677962  DT.99952388 

    Selected AceView cDNA sequences (see all 391):

    BG255182 BX445971 CA450440 AI474322 BM473601 BQ019263 BE465991 BM977051 
    CR594699 BI258818 AA769839 NM_004301 AV729043 BE277252 BQ231261 BU192372 
    BQ574388 BM468430 BM461556 AA631545 BX446079 BQ694874 AI276801 BC001391 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACTL6A (see all 10)    About this scheme

    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:                    -                 -                                                                                                                     

    ExUns: 15b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ACTL6A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACTL6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGGCGGC
    ACTL6A Expression
    About this image


    ACTL6A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    ACTL6A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTL6A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435326
        Custom PCR Arrays for ACTL6A
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTL6A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTL6A gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actl6a1 , 5 actin-like 6A1, 5 88.58(n)1
    98.83(a)1
      3 (15.83 cM)5
    564561  NM_019673.21  NP_062647.21 
     327085465 
    chicken
    (Gallus gallus)
    Aves ACTL6A1 actin-like 6A 85(n)
    98.6(a)
      424975  XM_422784.4  XP_422784.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACTL6A6
    actin-like 6A
    85(a)
    1 ↔ 1
    3(2102704-2123054)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC043771.12   -- 76.49(n)    BC043771.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045889.12   -- 80.24(n)   192313  BC045889.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap551 Brahma associated protein 55kD 58.47(n)
    57.04(a)
      36956  NM_137365.3  NP_611209.1 
    worm
    (Caenorhabditis elegans)
    Secernentea swsn-61 swsn-6 54.75(n)
    46.82(a)
      177325  NM_068400.4  NP_500801.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARP46
    Nuclear actin-related protein involved in chromati...
    24(a)
    1 → many
    X(283802-285271) YJL081C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ARP41 ARP4 53.48(n)
    44.84(a)
      838425  NM_101702.3  NP_564051.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01372001 Os08g0137200 52.68(n)
    43.41(a)
      4344621  NM_001067489.1  NP_001060954.1 


    ENSEMBL Gene Tree for ACTL6A (if available)
    TreeFam Gene Tree for ACTL6A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTL6A gene
    ACTL6B2  
    Selected SIMAP similar genes for ACTL6A using alignment to 4 protein entries:     ACL6A_HUMAN (see all proteins) (see all similar genes):
    BAF53A    ACTL6B    ACT    ACTR1A    ACTA1    ACTG1
    POTEM    ACTBL2    ACTC1    POTEKP    PS1TP5BP1    ACTR1B
    POTEE    POTEF    POTEI    POTEJ    ACTG2    ACTA2

    Find genes that share paralogs with ACTL6A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ACTL6A
    PGOHUM00000248163


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ACTL6A (see all 530)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124922201,2
    C,F,A,H--179278768(+) ATTTCG/ACATAG 3 -- us2k123Minor allele frequency- A:0.15EA NS NA WA CSA 2122
    rs1826192061,2
    --179278820(+) CTTTTC/TTTTTT 3 -- us2k10--------
    rs1888727911,2
    --179278823(+) TTTTTC/TTTTTT 3 -- us2k10--------
    rs1465020611,2
    C--179278849(+) TTTGTC/TACCCA 3 -- us2k10--------
    rs1391603171,2
    --179278959(+) CACCAC/GCATAC 3 -- us2k10--------
    rs112967201,2
    C--179279180(+) AAAAA-/AGGCAG 3 -- us2k1 trp31Minor allele frequency- A:0.00NA 2
    rs1405454091,2
    C--179279292(+) TGCTG-/ACAC  
            
    ACATC
    3 -- us2k10--------
    rs1415203471,2
    C--179279373(+) TGAATA/GGGAAA 3 -- us2k10--------
    rs98168011,2
    C,F,H--179279381(+) AAAGAG/CTTTTC 3 -- us2k110Minor allele frequency- C:0.37EA NS NA WA 664
    rs1932223761,2
    --179279435(+) CACCCC/TCTGCC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACTL6A (179280668 - 179306196 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ACTL6A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv437900CNV Loss16468122

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTL6A
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTL6A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604958    OMIM disorders: --


    Find genes that share disorders with ACTL6A           About GenesLikeMe


    Export disorders for ACTL6A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACTL6A gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with ACTL6A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling. (PubMed id 9845365)1, 2, 3, 9 Zhao K....Crabtree G.R. (Cell 1998)
    2. Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues. (PubMed id 10380635)1, 2, 3 Harata M.... Mizuno S. (Biosci. Biotechnol. Biochem. 1999)
    3. Subunit organization of the human INO80 chromatin remodeling complex: An evolutionarily conserved core complex catalyzes ATP-dependent nucleosome remodeling. (PubMed id 21303910)1, 2 Chen L.... Conaway R.C. (J. Biol. Chem. 2011)
    4. Distinct modes of regulation of the Uch37 deubiquitinating enzyme in the proteasome and in the Ino80 chromatin-remodeling complex. (PubMed id 18922472)1, 2 Yao T.... Conaway J.W. (Mol. Cell 2008)
    5. A YY1-INO80 complex regulates genomic stability through homologous recombination-based repair. (PubMed id 18026119)1, 2 Wu S.... Shi Y. (Nat. Struct. Mol. Biol. 2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The highly conserved and multifunctional NuA4 HAT complex. (PubMed id 15196461)1, 2 Doyon Y. and Cote J. (Curr. Opin. Genet. Dev. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans. (PubMed id 14966270)1, 2 Doyon Y.... Cote J. (Mol. Cell. Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 86 HGNC: 24124 AceView: ACTL6A Ensembl:ENSG00000136518 euGenes: HUgn86
    ECgene: ACTL6A H-InvDB: ACTL6A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACTL6A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ACTL6A gene:
    Search GeneIP for patents involving ACTL6A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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