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ACTA1 Gene

protein-coding   GIFtS: 69
GCID: GC01M229567

Actin, Alpha 1, Skeletal Muscle


(Previous symbol: ACTA)
  See ACTA1-related diseases
at  

(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, Alpha 1, Skeletal Muscle1 2     CFTDM2
ACTA1 2 3     MPFD2
Nemaline Myopathy Type 31 2     NEM12
ASMA2 5     NEM22
CFTD12 5     Actin, Alpha Skeletal Muscle2
NEM32 5     Alpha-actin-13
CFTD2     

External Ids:    HGNC: 1291   Entrez Gene: 582   Ensembl: ENSG000001436327   OMIM: 1026105   UniProtKB: P681333   

Export aliases for ACTA1 gene to outside databases

Previous GC identifers: GC01M228014 GC01M225261 GC01M225966 GC01M226528 GC01M225873 GC01M227633 GC01M200057


(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 ACTA1 Gene:
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that
play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified,
with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are
involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle.
Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments,
congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to
muscle fiber defects. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACTA1 Gene:
ACTA1 (actin, alpha 1, skeletal muscle) is a protein-coding gene. Diseases associated with ACTA1 include myopathy, and myopathy, actin, congenital, with excess of thin myofilaments. GO annotations related to this gene include myosin binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTG2.

UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133
Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
ubiquitously expressed in all eukaryotic cells

summary for ACTA1 Gene:
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found
in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G-
and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament
network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular
'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin
is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens
junctions. This gives mechanical support to cells and attaches them to each other and the extracellular
matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form
actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through
actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a
role in cell motility through polymerization and depolymerization of fibrils.

Gene Wiki entry for ACTA1 (Actin, alpha 1) 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_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTA1 gene promoter:
         MEF-2A   AP-1   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTA1 promoter sequence
   Search Chromatin IP Primers for ACTA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTA1


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

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q42.13

ACTA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M229567:  view genomic region     (about GC identifiers)

Start:
229,566,992 bp from pter      End:
229,569,845 bp from pter
Size:
2,854 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133 (See protein sequence)
Recommended Name: Actin, alpha skeletal muscle precursor  
Size: 377 amino acids; 42051 Da
Subunit: Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a
two-stranded helix. Each actin can bind to 4 others. Identified in a complex composed of ACTA1, COBL, GSN AND
TMSB4X (By similarity). Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs
for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells
Miscellaneous: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The
alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and
gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell
motility
1 PDB 3D structure from and Proteopedia for ACTA1:
1T44 (3D)    
Secondary accessions: P02568 P99020 Q5T8M9

Explore the universe of human proteins at neXtProt for ACTA1: NX_P68133

Explore proteomics data for ACTA1 at MOPED

Post-translational modifications: 

  • Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin
    filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by
    MSRB1 and MSRB2, which promote actin repolymerization (By similarity)1
  • Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes.
    Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow
    ingression during cytokinesis and cell migration1
  • Ubiquitination2 at Lys52, Lys63, Lys70, Lys86, Lys115, Lys193, Lys215, Lys317, Lys328, Lys330
  • Modification sites at PhosphoSitePlus

  • See ACTA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001091.1  
    ENSEMBL proteins: 
     ENSP00000355645   ENSP00000355644  
    Reactome Protein details: P68133

    ACTA1 Human Recombinant Protein Products:

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    OriGene Custom Protein Services for ACTA1
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    Novus Biologicals ACTA1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ACTA1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ACTA1 

    ACTA1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTA1
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    Abcam antibodies for ACTA1 (P62736, P68133, P68032)
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    LSBio Antibodies in human, mouse, rat for ACTA1

    ACTA1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for ACTA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR020902 Actin/actin-like_CS
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry P68133

    ProtoNet protein and cluster: P68133

    UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133
    Similarity: Belongs to the actin family


    Find genes that share domains with ACTA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: ACTS_HUMAN, P68133
    Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
    ubiquitously expressed in all eukaryotic cells

         Genatlas biochemistry entry for ACTA1:
    actin,alpha 1,skeletal and smooth muscle major constituent of thin filaments

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS10508519
    GO:0005515protein binding IPI12849983
    GO:0005524ATP binding TAS10508519
    GO:0017022myosin binding TAS10508519
    GO:0043531ADP binding TAS10508519
         
    Find genes that share ontologies with ACTA1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACTA1:
     Decreased POU5F1-GFP protein e 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Acta1):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  skeleton  vision/eye 

    Find genes that share phenotypes with ACTA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Acta1tm1Jll for ACTA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACTA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACTA1:
    hsa-mir-1 (MIRT023513), hsa-mir-877-5p (MIRT037359)

    Block miRNA regulation of human, mouse, rat ACTA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACTA1 (see all 19):
    hsa-miR-495 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-3692 hsa-let-7g hsa-let-7a hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidACTA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACTA1
    Predesigned siRNA for gene silencing in human, mouse, rat ACTA1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACTA1

    Clone
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    OriGene ORF clones in mouse, rat for ACTA1
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    GenScript: all cDNA clones in your preferred vector: ACTA1 (NM_001100)
    Sino Biological Human cDNA Clone for ACTA1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTA1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for ACTA1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTA1


    (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
    ACTS_HUMAN, P68133: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    cytosol4
    mitochondrion1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA15198992
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----

    Find genes that share ontologies with ACTA1           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 ACTA1 About   (see all 42)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    Transport Clathrin coated vesicle cycle0.66
    2Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Cytoskeleton remodeling Slit Robo signaling0.92
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Integrin Pathway
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    Integrin Pathway0.67
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56


    Find genes that share SuperPaths with ACTA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTA1 (see all 43)
        RhoA Pathway
    Paxillin Interactions
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling
    ITK and TCR Signaling

    1 Cell Signaling Technology (CST) Pathway for ACTA1
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ACTA1 (see all 8)
        Cytoskeleton remodeling RalA regulation pathway
    Development Slit-Robo signaling
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    Selected BioSystems Pathways for ACTA1 (see all 6)
        Myometrial Relaxation and Contraction Pathways
    Hypothetical Network for Drug Addiction
    Striated Muscle Contraction
    Caspase cascade in apoptosis
    Signaling events mediated by focal adhesion kinase


    1 Reactome Pathway for ACTA1
        Striated Muscle Contraction


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTA1: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACTA1

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

    Selected Interacting proteins for ACTA1 (P681332, 3 ENSP000003556454) via UniProtKB, MINT, STRING, and/or I2D (see all 413)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GCP027742, 3, ENSP000002739514MINT-24830 MINT-24961 I2D: score=4 STRING: ENSP00000273951
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS10508519
    GO:0009612response to mechanical stimulus IEA--
    GO:0009991response to extracellular stimulus IEA--
    GO:0010226response to lithium ion IEA--
    GO:0016049cell growth IEA--

    Find genes that share ontologies with ACTA1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ACTA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CK 666Arp2/3 inhibitor; inhibits actin polymerization[442633-00-3]
    Latrunculin AInhibitor of actin assembly and polymerization[76343-93-6]
    Cytochalasin DDisrupts actin filament function[22144-77-0]
    JasplakinolideStabilizes F-actin; promotes actin polymerization[102396-24-7]
    Thymosin beta4Potent actin polymerization regulator[77591-33-4]

    Selected DrugBank Compounds for ACTA1 (see all 14)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Methyl-Histidine-- --target--17139284 17016423 10592235
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Jaspisamide A-- --target--17139284 17016423 10592235
    Kabiramide C-- --target--17139284 17016423 10592235
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--17139284 17016423 10592235
    Sucrose-- 57-50-1target--17139284 17016423 10592235
    Tmr-- --target--17139284 17016423 10592235
    Ulapualide A-- --target--17139284 17016423 10592235
    Latrunculin A-- --targetinhibitor3556584 10592235
    Aplyronine A-- --target--10592235

    10 Novoseek inferred chemical compound relationships for ACTA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    listeriolysin 65 1 8022283 (1)
    proline 40.7 4 8197202 (1), 12529859 (1), 9296389 (1), 11489888 (1)
    phosphatidylinositol-3,4,5-trisphosphate 37.3 2 10559250 (2)
    peptidoglycan 19.4 1 16430699 (1)
    phosphoinositide 19.3 5 14993121 (1), 10559250 (1), 10618167 (1), 15642729 (1)
    calcium 4.14 1 12042317 (1)
    lipid 0 2 14967034 (1), 12738883 (1)
    iron 0 2 10933250 (2)
    creatinine 0 3 19573231 (2)
    serine 0 2 15832616 (1)



    Find genes that share compounds with ACTA1           About GenesLikeMe



    (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 )
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    REFSEQ mRNAs for ACTA1 gene: 
    NM_001100.3  

    Unigene Cluster for ACTA1:

    Actin, alpha 1, skeletal muscle
    Hs.1288  [show with all ESTs]
    Unigene Representative Sequence: BC012597
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366684(uc001htm.3) ENST00000366683
    miRNA
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    hsa-miR-495 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-3692 hsa-let-7g hsa-let-7a hsa-miR-7-1*
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      QuantiTect SYBR Green Assays in human, mouse, rat ACTA1
      QuantiFast Probe-based Assays in human, mouse, rat ACTA1

    Additional mRNA sequence: 

    AK096902.1 AK300697.1 AY280960.1 BC012597.1 BX648545.1 CR536516.1 CR541796.1 J00068.1 

    Selected DOTS entries (see all 52):

    DT.102841501  DT.454774  DT.95093239  DT.95313403  DT.91890162  DT.95181315  DT.121372759  DT.91850128 
    DT.95313393  DT.102841506  DT.121372761  DT.91758479  DT.95340176  DT.100795516  DT.100868813  DT.100870207 
    DT.102841497  DT.121372744  DT.121372751  DT.85102679  DT.92033969  DT.98084087  DT.100640118  DT.100749385 

    Selected AceView cDNA sequences (see all 807):

    F16637 F17669 BF790524 F18631 AA310566 F19656 AA211587 AA194516 
    C05174 F37451 CR541796 F17003 AJ711290 F35268 BX648545 F16625 
    AA197227 BF577010 AA313901 CF552423 AA313853 BQ694531 AA346182 F01077 

    GeneLoc Exon Structure


    (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)
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    ACTA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATCAAGA
    ACTA1 Expression
    About this image


    ACTA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 43 entries
             Multinuclear Myocyte Extraocular Muscles
             Skeletal muscle-like cells
     
     Limb (Muscoskeletal System)    fully expand to see all 8 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Sacral Primary Hypaxial Myotome
     
     Heart (Cardiovascular System)    fully expand to see all 7 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
             Cardiac progenitor cells
             Cardiomyocyte-like cells
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Vascular smooth muscle-like cells
    ACTA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1288
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTA1: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Cardiotoxicity in human mouse rat

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTA1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acta11 , 5 actin, alpha 1, skeletal muscle1, 5 90.89(n)1
    100(a)1
      8 (72.26 cM)5
    114591  NM_009606.31  NP_033736.11 
     1238917675 
    chicken
    (Gallus gallus)
    Aves ACTA11 actin, alpha 1, skeletal muscle 88.51(n)
    100(a)
      421534  NM_001031063.1  NP_001026234.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACTA16
    actin, alpha 1, skeletal muscle
    100(a)
    1 ↔ 1
    1(222205572-222213068)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia act31 actin, alpha sarcomeric/skeletal 80.81(n)
    98.41(a)
      394673  NM_203745.1  NP_989076.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF180887.12   -- 86.89(n)   58114  AF180887.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G421001 AT2G42100 69.53(n)
    79.36(a)
      818810  NM_129773.1  NP_181740.1 
    rice
    (Oryza sativa)
    Liliopsida AK063572.12   -- 80.81(n)    AK063572.1 


    ENSEMBL Gene Tree for ACTA1 (if available)
    TreeFam Gene Tree for ACTA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTA1 gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTRT12  ACTG12  
    ACTBL22  ACTR1B2  ACTRT32  
    Selected SIMAP similar genes for ACTA1 using alignment to 5 protein entries:     ACTS_HUMAN (see all proteins) (see all similar genes):
    ACTB    ACT    ACTG2    ACTG1    ACTA2    ACTC1
    PS1TP5BP1    ACTBL2    POTEF    POTEM    POTEE    POTEI
    POTEKP    POTEJ    ACTR3C    ACTR1B    ACTRT3    ACTR1A

    Find genes that share paralogs with ACTA1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ACTA1
    PGOHUM00000242350


    (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)
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    Selected SNPs for ACTA1 (see all 234)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0624624
    Nemaline myopathy 3 (NEM3)4--see VAR_0624622 M V mis40--------
    VAR_0624384
    Nemaline myopathy 3 (NEM3)4--see VAR_0624382 E K mis40--------
    VAR_0624494
    Nemaline myopathy 3 (NEM3)4--see VAR_0624492 A G mis40--------
    VAR_0624404
    Nemaline myopathy 3 (NEM3)4--see VAR_0624402 N T mis40--------
    VAR_0116874
    Nemaline myopathy 3 (NEM3)4--see VAR_0116872 V F mis40--------
    VAR_0116824
    Nemaline myopathy 3 (NEM3)4--see VAR_0116822 N S mis40--------
    VAR_0624274
    Nemaline myopathy 3 (NEM3)4--see VAR_0624272 P L mis40--------
    VAR_0624544
    Nemaline myopathy 3 (NEM3)4--see VAR_0624542 R S mis40--------
    VAR_0116804
    Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM)4--see VAR_0116802 G R mis40--------
    VAR_0329184
    Myopathy, congenital, with fiber-type disproportion (CFTD)4--see VAR_0329182 D V mis40--------

    HapMap Linkage Disequilibrium report for ACTA1 (229566992 - 229569845 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ACTA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv543n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ACTA1
    Locus Specific Mutation Databases (LSDB): ACTA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTA1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102610   
    OMIM disorders: 161800  255310  
    UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133
  • Nemaline myopathy 3 (NEM3) [MIM:161800]: A form of nemaline myopathy. Nemaline myopathies are muscular
    disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped
    structures in muscle fibers on histologic examination. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]: A congenital
    muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and
    mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and
    necrosis are absent. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous
    disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal
    muscle biopsy. However, these findings are not specific and can be found in many different myopathic and
    neuropathic conditions. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for ACTA1:    
    About MalaCards
    myopathy    myopathy, actin, congenital, with excess of thin myofilaments    nemaline myopathy 3, autosomal dominant or recessive    listeriosis
    myopathy, congenital, with fiber-type disproportion 1    myopathy, actin, congenital, with cores    acta1-related congenital fiber-type disproportion    intranuclear rod myopathy
    nemaline myopathy 3    childhood restrictive cardiomyopathy    acta1-related nemaline myopathy    typical nemaline myopathy
    intermediate nemaline myopathy    nemaline myopathy    congenital myotonic dystrophy    childhood-onset nemaline myopathy
    congenital fiber-type disproportion    nance-horan syndrome    cap myopathy    severe congenital nemaline myopathy

    3 diseases from the University of Copenhagen DISEASES database for ACTA1:
    Listeriosis     Myopathy     Autoimmune hepatitis

    Find genes that share disorders with ACTA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ACTA1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathies nemaline 96.2 65 16945536 (3), 11166164 (3), 16288873 (2), 15336686 (2) (see all 32)
    congenital fiber type disproportion 93.6 3 15468086 (1), 17387733 (1)
    myopathy, congenital 91.1 16 18976909 (2), 15520409 (1), 12921789 (1), 19562689 (1) (see all 8)
    myopathy 74.5 31 10508519 (2), 15221331 (2), 15072110 (2), 15226407 (2) (see all 14)
    scar1 74.1 2 11029465 (2)
    listeriosis 49.8 1 9284184 (1)
    neuromuscular diseases 41.1 3 15236405 (1), 19393268 (1)
    respiratory failure 24.3 1 15468086 (1)
    tumors 1.4 12 20213121 (4), 16837618 (1)
    hemolysis 0 1 15921204 (1)

    GeneTests: ACTA1
    GeneReviews: ACTA1
    Genetic Association Database (GAD): ACTA1
    Human Genome Epidemiology (HuGE) Navigator: ACTA1 (7 documents)

    Export disorders for ACTA1 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 ACTA1 gene, integrated from 10 sources (see all 438):
    (articles sorted by number of sources associating them with ACTA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha- actin gene mutations. (PubMed id 15236405)1, 2, 9 Agrawal P.B.... Beggs A.H. (Ann. Neurol. 2004)
    2. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. (PubMed id 11166164)1, 2, 9 Jungbluth H.... Muntoni F. (Neuromuscul. Disord. 2001)
    3. Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). (PubMed id 15336687)1, 2, 9 Ohlsson M.... Oldfors A. (Neuromuscul. Disord. 2004)
    4. Nemaline myopathy caused by mutations in the muscle alpha-skeletal- actin gene. (PubMed id 11333380)1, 2, 9 Ilkovski B.... North K.N. (Am. J. Hum. Genet. 2001)
    5. The pathogenesis of ACTA1-related congenital fiber type disproportion. (PubMed id 17387733)1, 2, 9 Clarke N.F.... North K. (Ann. Neurol. 2007)
    6. Actin mutations are one cause of congenital fibre type disproportion. (PubMed id 15468086)1, 2, 9 Laing N.G.... Nonaka I. (Ann. Neurol. 2004)
    7. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (PubMed id 15198992)1, 2, 9 Ilkovski B.... Cooper S.T. (Hum. Mol. Genet. 2004)
    8. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. (PubMed id 10508519)1, 2, 9 Nowak K.J.... North K.N. (Nat. Genet. 1999)
    9. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PubMed id 16501887)1, 2, 9 Bosch-Comas A....Marfany G. (Cell. Mol. Life Sci. 2006)
    10. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. (PubMed id 16427282)1, 2, 9 Hutchinson D.O.... North K.N. (Neuromuscul. Disord. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 58 HGNC: 129 AceView: ACTA1 Ensembl:ENSG00000143632 euGenes: HUgn58
    ECgene: ACTA1 H-InvDB: ACTA1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for ACTA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACTA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACTA1 gene:
    Search GeneIP for patents involving ACTA1

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



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