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ACTL6A Gene

protein-coding   GIFtS: 55

GC03P176684
actin-like 6A
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
actin-like 6A1 2     Baf53a1
BAF53A1 2 3 5     arpNbeta2
INO80K1 2 3     hArpN beta2
BAF532 3 5     actin-related protein 42
Arp41 2     ARPN-BETA2
Actin-related protein Baf53a2 3     BAF complex 53 kDa subunit2
53 kDa BRG1-associated factor A2 3     actin-like protein 6A2
BRG1-associated factor 53A2 3     MGC53822
INO80 complex subunit K2 3     ACTL62
Actl61     ArpNbeta3

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

Export aliases for ACTL6A gene to outside databases

Previous GC identifers: GC03P180763 GC03P179280


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACTL6A:
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)

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

Gene Wiki entry for ACTL6A

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACTL6A gene promoter:
         p53   CUTL1   NF-Y   CP1C   CP1A   NF-YA   FOXO1a   POU2F1   AhR   Arnt   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ACTL6A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P176684:  view genomic region     (about GC identifiers)

Start:
176,684,454 bp from pter
End:
176,709,974 bp from pter
Size:
25,521 bases
Orientation:
plus strand

1 alternative location:
Chr3+ 179,280,668-179,306,196     
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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, at least composed of ACTL6A, ACTR5, ACTR8, RVBL1, RVBL2, INO80, INO80B, INO80C,
INO80D and INO80E. 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)
Subcellular location: Nucleus
Secondary accessions: B3KMN1 Q8TAE5 Q9BVS8 Q9H0W6
Alternative splicing: 2 isoforms:  O96019-1   O96019-2   

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000376430 ENSP00000420694 ENSP00000394014 ENSP00000397552 ENSP00000259034 ENSP00000420153 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ACTL6A
    OriGene Protein Over-expression Lysate (see all 2): ACTL6A
    GenScript Custom Purified and Recombinant Proteins Services for ACTL6A 
    Novus Biologicals Proteins for ACTL6A
    Novus Biologicals Lysates for ACTL6A
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ACTL6A

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005886 plasma membrane IDA11256614
    GO:0016514 SWI/SNF complex IDA11078522
    GO:0016585 chromatin remodeling complex IEA--
    GO:0035267 NuA4 histone acetyltransferase complex IDA14966270
    About this table

    ACTL6A for ontologies           About GeneDecksing



    Antibodies for ACTL6A: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ACTL6A 
    Novus Biologicals Antibodies for ACTL6A
    Browse antibodies at Epitomics

    Assays for ACTL6A: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACTL6A 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ACTL6A 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACTL6A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004001 Actin_CS
     IPR004000 Actin-like

    Graphical View of Domain Structure for InterPro Entry O96019

    ProtoNet protein and cluster: O96019

    1 Blocks protein family: IPB004000 Actin/actin-like

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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Browse siRNA at Sigma-Aldrich
    Browse shRNA at Sigma-Aldrich
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ACTL6A
    OriGene shRNA RFP (see all 3): ACTL6A
    OriGene basic RS shRNA (see all 3): ACTL6A
    OriGene siRNA (see all 3): ACTL6A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ACTL6A 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ACTL6A 
    2 SABiosciences Assays for microRNAs that regulate ACTL6A:
    hsa-miR-1303 hsa-miR-1283

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): ACTL6A
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): ACTL6A
    OriGene untagged cDNA clones in CMV expression vector (see all 3): ACTL6A
    OriGene 3'-UTR clone (see all 3): ACTL6A 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ACTL6A 
    Sino Biological Human cDNA Clone for ACTL6A

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ACTL6A 

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682 chromatin binding IEA--
    GO:0004190 aspartic-type endopeptidase activity ----
    GO:0005515 protein binding IEA--
    GO:0005524 ATP binding IEA--
    About this table

    ACTL6A for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    ACTL6A for pathways           About GeneDecksing

    2 Millipore Pathways for ACTL6A
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

        SABiosciences Custom Pathway-Focused PCR Arrays for ACTL6A 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACTL6A

    5/772 Interacting proteins for ACTL6A (O960192 ENSP000002590343) via UniProtKB, MINT, and/or STRING (see all 772)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607092, ENSP000003499603MINT-7945693 MINT-7947479 STRING: ENSP00000349960
    ARID1AO144972, ENSP000003204853MINT-7945693 MINT-7947479 STRING: ENSP00000320485
    RUVBL1Q9Y2652, ENSP000003182973MINT-7945693 MINT-7947479 STRING: ENSP00000318297
    SMARCE1Q969G32, ENSP000003239673MINT-7945693 MINT-7947479 STRING: ENSP00000323967
    SMARCB1Q128242, ENSP000003408833MINT-7945693 MINT-7947479 STRING: ENSP00000340883
    About this table

    5/8 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338 chromatin remodeling IEA--
    GO:0006508 proteolysis ----
    GO:0007165 signal transduction TAS9845365
    GO:0007399 nervous system development IEA--
    GO:0040008 regulation of growth IEA--
    About this table

    ACTL6A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACTL6A


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Browse siRNA at Sigma-Aldrich
    Browse shRNA at Sigma-Aldrich
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ACTL6A
    OriGene shRNA RFP (see all 3): ACTL6A
    OriGene basic RS shRNA (see all 3): ACTL6A
    OriGene siRNA (see all 3): ACTL6A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ACTL6A 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ACTL6A 
    2 SABiosciences Assays for microRNAs that regulate ACTL6A:
    hsa-miR-1303 hsa-miR-1283
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): ACTL6A
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): ACTL6A
    OriGene untagged cDNA clones in CMV expression vector (see all 3): ACTL6A
    OriGene 3'-UTR Clone (see all 3): ACTL6A 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ACTL6A 
    Primers: OriGene genome-wide validated SYBR primer pairs: ACTL6A
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ACTL6A: PPH20443A

    REFSEQ mRNAs for ACTL6A gene (3 alternative transcripts): 

    NM_004301.3  NM_177989.2  NM_178042.2  

    Additional cDNA 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 CR594699.1 CR597700.1 CR602120.1 
    CR613774.1 CR621230.1 

    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.99952388  DT.100677962 

    24/391 AceView cDNA sequences (see all 391):

    AW590777 AA580994 BQ227431 BX415072 BP342939 AI368400 BQ055244 AI695907 
    CB070078 CR594699 AA769839 BQ019263 BE465991 AA333203 AV729043 BE277252 
    CB069597 AA631545 AA634586 BX445971 BQ013297 BM468430 NM_004301 AI474322 

    highest scoring ESTs for ACTL6A:

    AF041474 AA133124 AA133132 AA226054 AA262696 AA406395 AA410394 AA580935 AA631545 AA744899 

    Unigene Cluster for ACTL6A:

    Actin-like 6A
    Hs.435326  [show with all ESTs]
    Unigene Representative Sequence: NM_178042


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACTL6A (see all 10)

    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:      

    About this scheme

    ECgene alternative splicing isoforms for ACTL6A
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392662(uc003fjy.2) ENST00000494843 ENST00000468767 ENST00000479056
    ENST00000487978 ENST00000461125 ENST00000450518 ENST00000491202 ENST00000429709(uc003fjw.2 uc003fjx.2)
    ENST00000467383 ENST00000259034 ENST00000463661 ENST00000484312 ENST00000490364
    ENST00000467615 ENST00000486471

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    ACTL6A expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching ACTL6A gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    41278_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF041474 1.00 1.00 1.00 1
    202666_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004301 0.60 1.00 0.82 1
    202666_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    ACTL6A for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ACTL6A gene expression
    ACTL6A gene electronic northern expression
    ACTL6A gene sage expression
    About these images

    CGAP SAGE TAG: GATTGGCGGC

    SOURCE GeneReport for Unigene cluster: Hs.435326
    Primers: OriGene genome-wide validated SYBR primer pairs: ACTL6A
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ACTL6A: PPH20443A
        SABiosciences Custom PCR Arrays for ACTL6A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for ACTL6A gene from 5/12 species (see all 12)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ACTL6A1   -- actin-like 6A 93.82(n)
    99.52(a)
    478637  XM_843131.1  XP_848224.1 
    rat
    (Rattus norvegicus)
    Actl6a1   -- actin-like 6A 88.89(n)
    98.6(a)
    361925  NM_001039033.1  NP_001034122.1 
    mouse
    (Mus musculus)
    Actl6a1 , 5 3 (15.83 cM)5
    actin-like 6A1, 5 88.58(n)1
    98.6(a)1
    564561  NM_019673.11  NP_062647.11 
     AF0414765  AI8510945  (see all 22)
    chicken
    (Gallus gallus)
    ACTL6A1   -- actin-like 6A 84.59(n)
    98.11(a)
    424975  XM_422784.2  XP_422784.2 
    zebrafish
    (Danio rerio)
    BC045889.12   --   -- 80.24(n) 192313  BC045889.1 
    About this table        Species with no ortholog for ACTL6A

    ENSEMBL Gene Tree for ACTL6A (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for ACTL6A gene
    ACTR1A2  ACTRT22  ACTL92  ARPM12  ACTRT12  ACTL6B2  ACTL7A2  ACTL7B2  
    ACTR1B2  

    ACTL6A for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/216 NCBI SNPs in ACTL6A are shown (see all 216)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs11324291,2
    C,F,179298999(+) ATTGAA/C/G/
            
    ATCAG
    8 E D mis1 ref1 syn118NA NS EA WA 1314
    rs22929051,2
    C,F,179294845(-) AAAATG/ATATTT 2 -- int14Minor allele frequency- A:0.15EA WA 1608
    rs22929061,2
    C,F,179294801(-) AAGTGC/TCCATA 2 -- int16Minor allele frequency- T:0.06EA NS 1974
    rs22929071,2
    C,F,179294352(-) TGAACG/TAATTT 2 -- int18Minor allele frequency- T:0.15EA NS WA 2048
    rs37742261,2
    --179281010(+) tccccC/Ttctcg 2 -- int10--------
    rs42849801,2
    C,F,A,179285260(+) TAGGGC/GGACAC 2 -- int13Minor allele frequency- G:0.19EA WA 140
    rs44750401,2
    C,F,A,179303437(+) TGCTGC/TACACA 2 -- int111Minor allele frequency- N:0.00NS EA NA WA 772
    rs48550901,2
    C,F,179288496(+) AATGTA/GATACA 2 -- int110Minor allele frequency- G:0.13NS EA NA WA 630
    rs48550911,2
    C,F,179288797(+) GTGAAA/GGCAAG 2 -- int13Minor allele frequency- G:0.16EA WA 140
    rs48550921,2
    C,F,179290093(+) TTCTCG/AGTGTT 2 -- int116Minor allele frequency- A:0.12NS EA NA WA 876
    About this table

    HapMap Linkage Disequilibrium images for ACTL6A (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACTL6A
         1 CNV: 1655

    QIAGEN SeqTarget long-range PCR primers for resequencing ACTL6A 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ACTL6A for disorders           About GeneDecksing

    OMIM: 604958


    Export disorders and mutations for ACTL6A gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/48 PubMed articles for ACTL6A gene, integrated from 7 sources (see all 48):
    (articles sorted by number of sources associating them with ACTL6A)
    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, 7 Zhao K....Crabtree G.R. (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. (1999)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. The highly conserved and multifunctional NuA4 HAT complex. (PubMed id 15196461)1, 2 Doyon Y. and Cote J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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. (2004)
    7. Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans. (PubMed id 14966270)1, 2 Doyon Y.... Cote J. (2004)
    8. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. (PubMed id 12837248)1, 2 Kitagawa H.... Kato S. (2003)
    9. Identification of new subunits of the multiprotein mammalian TRRAP/TIP60-containing histone acetyltransferase complex. (PubMed id 12963728)1, 2 Cai Y.... Conaway J.W. (2003)
    10. BAF53 forms distinct nuclear complexes and functions as a critical c- Myc-interacting nuclear cofactor for oncogenic transformation. (PubMed id 11839798)1, 2 Park J.... Cole M.D. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 86 HGNC: 24124 AceView: ACTL6A Ensembl:ENSG00000136518 euGenes: HUgn86
    ECgene: ACTL6A H-InvDB: ACTL6A

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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     Regulatory tfbs in ACTL6A promoter
     Search Chromatin IP Primers for ACTL6A
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