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

ACTA1 Gene

protein-coding   GIFtS: 68
GCID: GC01M229567

Actin, Alpha 1, Skeletal Muscle


(Previous symbol: ACTA)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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

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

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 intranuclear rod myopathy, and among its related super-pathways are Striated Muscle Contraction and Clathrin-dependent protein traffic. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACTA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton
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:

  • UniProtKB: Oxidation of Met-46 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament
    depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the
    (S)-S-oxide or the (R)-S-oxide is produced (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P68133

  • ACTA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACTA1 Protein Expression
    REFSEQ proteins: NP_001091.1  
    ENSEMBL proteins: 
     ENSP00000355645   ENSP00000355644  
    Reactome Protein details: P68133
    Human Recombinant Protein Products for ACTA1: 
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    Novus Biologicals ACTA1 Proteins
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ACTA1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA15198992
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0005865striated muscle thin filament IDA15198992

    ACTA1 for ontologies           About GeneDecksing



    ACTA1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR004001 Actin_CS
     IPR004000 Actin-related
     IPR020902 Actin/actin-like_CS

    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


    ACTA1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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
         
    ACTA1 for ontologies           About GeneDecksing


    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  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  skeleton  vision/eye 

    ACTA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acta1tm1Jll for ACTA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACTA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACTA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTA1 
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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*
    SwitchGear 3'UTR luciferase reporter plasmidACTA1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTA1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACTA1 About   (see all 42)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    2Clathrin-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
    3Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Cytoskeleton remodeling Slit-Robo signaling0.92
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    CDC42 Pathway0.41
    Actin Nucleation and Branching0.66
    RhoA Pathway0.35
    5Integrin Pathway
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    FAK1 Signaling0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 EMD Millipore Pathways for ACTA1 (see all 7)
        Clathrin-dependent protein traffic
    Cell adhesion Gap junctions
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Cytoskeleton remodeling RalA regulation pathway

    5/43 Downloadable PowerPoint Slides of QIAGEN 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

    5/8 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

    5/6 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


    2        Reactome Pathways for ACTA1
        Muscle contraction
    Striated Muscle Contraction



    ACTA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACTA1

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

    5/256 Interacting proteins for ACTA1 (P681332, 3 ENSP000003556454) via UniProtKB, MINT, STRING, and/or I2D (see all 256)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSNP063962, 3, ENSP000003629244MINT-24898 I2D: score=5 STRING: ENSP00000362924
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503610 I2D: score=1 STRING: ENSP00000363390
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    AIF1P550083, ENSP000003652274I2D: score=2 STRING: ENSP00000365227
    ENSG00000204490P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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--

    ACTA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACTA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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]

    10/14 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)

    Search CenterWatch for drugs/clinical trials and news about ACTA1 / ACTS

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN 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 

    24/52 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 

    24/807 AceView cDNA sequences (see all 807):

    AA196622 F37498 AJ573715 AA346188 C05174 CF552423 BF790524 F37074 
    AA197227 F30034 W92644 AI200618 F17193 AA296552 F37471 AA194516 
    CR536516 AJ711341 F17682 F01077 F17124 BG152813 AJ706850 F16637 

    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™, 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

    ACTA1 expression in normal human tissues (normalized intensities)      ACTA1 embryonic expression: see
    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 
     5/22 selected tissues (see all 22) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 43 entries
             Multinuclear Myocyte Extraocular Muscles
             Human Skeletal Muscle Cells (HSkMC)   
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Sacral Primary Hypaxial Myotome
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 8 entries
             hIPS1
             ESI-017   
     
     Limb (Muscoskeletal System)    fully expand to see all 8 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
             Cardiac progenitor cells
             Cardiomyocyte-like cells ( Spontaneous differentiation of cardiomyocytes from human...

    See ACTA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTA1

    SOURCE GeneReport for Unigene cluster: Hs.1288
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTA1 gene from 5/15 species (see all 15)    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_009606.21  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)
    zebrafish
    (Danio rerio)
    Actinopterygii AF180887.12   -- 86.89(n)   58114  AF180887.1 
    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)
    About This Section
    Paralogs for ACTA1 gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTRT12  ACTG12  
    ACTL7A2  ACTBL22  ACTL7B2  ACTR1B2  ACTRT32  
    18/32 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    POTEM    ACTBL2    POTEF    POTEE    POTEI
    POTEKP    POTEJ    ACTR3C    ACTR1B    ACTRT3    ACTR1A

    ACTA1 for paralogs           About GeneDecksing


    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) 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

    10/234 SNPs in ACTA1 are shown (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
    Congenital myopathy 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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
  • Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]: 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

  • 20/52 diseases for ACTA1 (see all 52):    About MalaCards
    myopathy    intranuclear rod myopathy    congenital fiber-type disproportion    rod myopathy
    acta1-related congenital fiber-type disproportion    myopathy, actin, congenital, with excess of thin myofilaments    typical nemaline myopathy    intermediate nemaline myopathy
    myopathy congenital    childhood restrictive cardiomyopathy    acta1-related nemaline myopathy    listeriosis
    myopathy, congenital, with fiber-type disproportion 1    childhood-onset nemaline myopathy    severe congenital nemaline myopathy    cap myopathy
    ruptured thoracic aortic aneurysm    nance-horan syndrome    nemaline myopathy    congenital myotonic dystrophy

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

    ACTA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 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)
    About This Section

    PubMed articles for ACTA1 gene, integrated from 9 sources (see all 436):
    (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. (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. (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. (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. (2001)
    5. The pathogenesis of ACTA1-related congenital fiber type disproportion. (PubMed id 17387733)1, 2, 9 Clarke N.F....North K. (2007)
    6. Actin mutations are one cause of congenital fibre type disproportion. (PubMed id 15468086)1, 2, 9 Laing N.G.... Nonaka I. (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. (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. (1999)
    9. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PubMed id 16501887)1, 2, 9 Bosch-Comas A....Marfany G. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 58 HGNC: 129 AceView: ACTA1 Ensembl:ENSG00000143632 euGenes: HUgn58
    ECgene: ACTA1 H-InvDB: ACTA1

    (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 ACTA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTA1

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

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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