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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACTL6A Gene

protein-coding   GIFtS: 59
GCID: GC03P179280

actin-like 6A

 Explore 10 diseases affiliated with
ACTL6A via our new
 Human Malady Compendium 
Biological research products
for ACTL6A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Actin-Like 6A1 2     Baf53a1
BAF53A1 2 3 5     ACTL62
INO80K1 2 3     ARPN-BETA2
BAF532 3 5     Actin-Like Protein 6A2
Arp41 2     Actin-Related Protein 42
Actin-Related Protein Baf53a2 3     ArpNbeta3
53 KDa BRG1-Associated Factor A2 3     BAF Complex 53 KDa Subunit2
BRG1-Associated Factor 53A2 3     HArpN Beta2
INO80 Complex Subunit K2 3     ArpNbeta3
Actl61     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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, Jul 2008)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACTL6A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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; 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)
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O96019

  • ACTL6A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000397552   ENSP00000394014   ENSP00000420153   ENSP00000420694   ENSP00000376430  

    Human Recombinant Protein Products: 
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    Novus Biologicals ACTL6A Proteins
    Novus Biologicals ACTL6A Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ACTL6A
    Uscn Proteins for ACTL6A

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18026119
    GO:0005886plasma membrane IDA--
    GO:0016514SWI/SNF complex IDA8804307
    GO:0016585chromatin remodeling complex ----
    GO:0031011Ino80 complex IDA--


    ACTL6A for ontologies           About GeneDecksing



    ACTL6A Antibody Products: 
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    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-related

    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 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    miRNA
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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
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI18026119
    GO:0005524ATP binding IEA--


    ACTL6A for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Actl6atm1.2Grc for ACTL6A
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Actl6a):
     hematopoietic system  immune system  mortality/aging 

    ACTL6A for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Ligand-dependent activation of the ESR1/AP-1 pathway
    Development_Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    Transcription_Ligand-dependent activation of the ESR1/SP pathway0.37
    Development Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    2TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway1.00
    3Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation1.00
    4C-MYC pathway
    C-MYC pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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


    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

    3 BioSystems Pathways for ACTL6A 
        TNF-alpha/NF-kB Signaling Pathway
    Validated targets of C-MYC transcriptional activation
    C-MYC pathway



    ACTL6A for pathways           About GeneDecksing

    Interactions:

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

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

    5/828 Interacting proteins for ACTL6A (O960191, 2, 3 ENSP000003975524) via UniProtKB, MINT, STRING, and/or I2D (see all 828)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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
    SMARCD1Q96GM52, 3, ENSP000003784144MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000378414
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003407neural retina development IEP18816825
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006338chromatin remodeling IDA11726552
    GO:0006351transcription, DNA-dependent IEA--


    ACTL6A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACTL6A
    Search CenterWatch for drugs/clinical trials and news about ACTL6A / ACL6A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429709(uc003fjw.3) ENST00000450518(uc003fjx.3) ENST00000463661
    ENST00000491202 ENST00000468767 ENST00000494843 ENST00000490364 ENST00000487978
    ENST00000486471 ENST00000467383 ENST00000467615 ENST00000479056 ENST00000484312
    ENST00000461125 ENST00000392662(uc003fjy.3)

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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
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    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 

    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 

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

    AK098691 BX415072 CR594699 BC000949 AA580994 AI565164 BI258818 BG255182 
    AA262696 BX415379 AI368400 BP374300 AW401379 BX379778 BQ694874 BE465991 
    AA631545 BQ433703 BM461556 BU630618 BX446079 CA450440 BQ435959 AU119086 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACTL6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTGGCGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ACTL6A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTL6A

    SOURCE GeneReport for Unigene cluster: Hs.435326
        SABiosciences Custom PCR Arrays for ACTL6A
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTL6A gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ACTL6A1 actin-like 6A 85(n)
    98.6(a)
      424975  XM_422784.3  XP_422784.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACTL6A6
    --
    96(a)
    1 ↔ 1
    3(2107207-2122631)
    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 57.94(n)
    56.19(a)
      36956  NM_137365.2  NP_611209.1 
    worm
    (Caenorhabditis elegans)
    Secernentea swsn-66
    Protein SWSN-6
    45(a)
    1 → many
    IV(5394954-5396961)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ARP41 actin-related protein 4 53.27(n)
    44.74(a)
      838425  NM_101702.3  NP_564051.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01372001 hypothetical protein 52.84(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)
    About This Section
    Paralogs for ACTL6A gene
    ACTL6B2  
    18/21 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
    ACTBL2    ACTC1    POTEKP    PS1TP5BP1    ACTR1B    POTEE
    POTEF    POTEI    POTEJ    ACTG2    ACTA2    ACTB

    ACTL6A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ACTL6A
    PGOHUM00000248163


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/411 NCBI SNPs in ACTL6A are shown (see all 411    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
    --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
    --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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACTL6A
         1 CNV: 1655

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    (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.)
    About This Section

    ACTL6A for disorders           About GeneDecksing

    OMIM gene information: 604958    OMIM disorders: --

    10 diseases for ACTL6A:    About MalaCards
    eaf    fanconi's anemia    williams syndrome    anemia
    cervical cancer    cervicitis    neuroblastoma    malaria
    leukemia    neuronitis


    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)
    About This Section

    PubMed articles for ACTL6A gene, integrated from 9 sources (see all 83):
    (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. (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. 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. (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. (2008)
    5. A YY1-INO80 complex regulates genomic stability through homologous recombination-based repair. (PubMed id 18026119)1, 2 Wu S.... Shi Y. (2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The highly conserved and multifunctional NuA4 HAT complex. (PubMed id 15196461)1, 2 Doyon Y. and Cote J. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



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