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

ACTC1 Gene

protein-coding   GIFtS: 64
GCID: GC15M035080

Actin, Alpha, Cardiac Muscle 1

(Previous names: actin, alpha, cardiac muscle)
(Previous symbol: ACTC)
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, Cardiac Muscle 11 2     LVNC42 5
ACTC1 2 3     Actin, Alpha, Cardiac Muscle1
ASD52 5     Actin, Alpha Cardiac Muscle 12
CMD1R2 5     Alpha-Cardiac Actin3
CMH112 5     

External Ids:    HGNC: 1431   Entrez Gene: 702   Ensembl: ENSG000001592517   OMIM: 1025405   UniProtKB: P680323   

Export aliases for ACTC1 gene to outside databases

Previous GC identifers: GC15M032870 GC15M011925


(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 ACTC1 Gene:
Actins are highly conserved proteins that are involved in various types of cell motility. 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 four others. The protein encoded by this gene belongs to the actin family which is comprised of three
main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a
major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated
cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). (provided by RefSeq, Jul 2008)

GeneCards Summary for ACTC1 Gene: 
ACTC1 (actin, alpha, cardiac muscle 1) is a protein-coding gene. Diseases associated with ACTC1 include myoepithelioma, and fasciitis, 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 ATPase activity. An important paralog of this gene is ACTG2.

UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032
Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
ubiquitously expressed in all eukaryotic cells

Gene Wiki entry for ACTC1 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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACTC1 gene promoter:
         Pax-3   STAT3   FOXO1a   MyoD   FOXO1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACTC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTC1


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q14

ACTC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTC1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M035080:  view genomic region     (about GC identifiers)

Start:
35,080,297 bp from pter      End:
35,088,340 bp from pter
Size:
8,044 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: ACTC_HUMAN, P68032 (See protein sequence)
Recommended Name: Actin, alpha cardiac muscle 1 precursor  
Size: 377 amino acids; 42019 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
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
Secondary accessions: P04270

Explore the universe of human proteins at neXtProt for ACTC1: NX_P68032

Explore proteomics data for ACTC1 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_P68032

  • ACTC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACTC1 Protein Expression
    REFSEQ proteins: NP_005150.1  
    ENSEMBL proteins: 
     ENSP00000290378  
    Reactome Protein details: P68032
    Human Recombinant Protein Products for ACTC1: 
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    Cloud-Clone Corp. Proteins for ACTC1 

    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:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005884actin filament IDA16611632
    GO:0030017sarcomere IDA16288873
    GO:0031674I band ISS--

    ACTC1 for ontologies           About GeneDecksing



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    Assay Products for ACTC1: 
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    Cloud-Clone Corp. CLIAs for ACTC1


    (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 P68032

    ProtoNet protein and cluster: P68032

    UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032
    Similarity: Belongs to the actin family


    ACTC1 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: ACTC_HUMAN, P68032
    Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
    ubiquitously expressed in all eukaryotic cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IDA16611632
    GO:0016887ATPase activity IDA16611632
    GO:0017022myosin binding IPI16611632
         
    ACTC1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACTC1:
     G0/1 arrest  Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Actc1):
     cardiovascular system  cellular  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  normal 

    ACTC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Actc1tm1Jll for ACTC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACTC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACTC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTC1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidACTC1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTC1


    (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 ACTC1 About   (see all 12)                                                                                              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
    4Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    5Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Cell adhesion Tight junctions0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 EMD Millipore Pathways for ACTC1 (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


    1 Cell Signaling Technology (CST) Pathway for ACTC1
        Cytoskeletal Signaling

    5/8 GeneGo (Thomson Reuters) Pathways for ACTC1 (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

    3 BioSystems Pathways for ACTC1
        Myometrial Relaxation and Contraction Pathways
    Cardiac Progenitor Differentiation
    Striated Muscle Contraction


    2        Reactome Pathways for ACTC1
        Muscle contraction
    Striated Muscle Contraction


    3         Kegg Pathways  (Kegg details for ACTC1):
        Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    ACTC1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACTC1

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

    5/108 Interacting proteins for ACTC1 (P680322, 3 ENSP000002903784) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHP044062, 3, ENSP000002292394MINT-8256327 I2D: score=2 STRING: ENSP00000229239
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503620 I2D: score=1 STRING: ENSP00000363390
    ABLIM3O949293, ENSP000003103094I2D: score=2 STRING: ENSP00000310309
    AFAP1Q8N5563, ENSP000004106894I2D: score=2 STRING: ENSP00000410689
    CAPN1P073843, ENSP000002792474I2D: score=2 STRING: ENSP00000279247
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA16611632
    GO:0006915apoptotic process ISS--
    GO:0030048actin filament-based movement IDA16611632
    GO:0030049muscle filament sliding TAS--
    GO:0030240skeletal muscle thin filament assembly ISS--

    ACTC1 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

    ACTC1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACTC1 (ACTC)

    10/33 Novoseek inferred chemical compound relationships for ACTC1 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucicarmine 62.3 3 11211614 (1), 11858401 (1), 19596664 (1)
    s 100 59.5 2 10564387 (1), 16859566 (1)
    progesterone 58.6 53 19781188 (2), 10227006 (2), 9308729 (1), 9422311 (1) (see all 50)
    reticulin 58.6 4 11858401 (1), 14565567 (1), 15363323 (1), 18459138 (1)
    hematoxylin 58.4 7 15307213 (1), 15807305 (1), 16883460 (1), 17240306 (1) (see all 7)
    estrogen 55.3 60 12090595 (2), 12004356 (2), 19781188 (2), 10227006 (2) (see all 55)
    paraffin 47.4 16 17912630 (1), 19130736 (1), 19514352 (1), 16365828 (1) (see all 16)
    imatinib 42.3 2 19041155 (1), 16998931 (1)
    orcein 40.6 1 15363323 (1)
    2-methoxyethanol 29.2 1 1706081 (1)

    Search CenterWatch for drugs/clinical trials and news about ACTC1 / ACTC

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACTC1 gene: 
    NM_005159.4  

    Unigene Cluster for ACTC1:

    Actin, alpha, cardiac muscle 1
    Hs.118127  [show with all ESTs]
    Unigene Representative Sequence: NM_005159
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290378(uc001ziu.1) ENST00000557860 ENST00000560563
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK129892.1 AK129902.1 AK290616.1 BC009978.2 CR541795.1 

    11 DOTS entries:

    DT.75138650  DT.87009325  DT.75162336  DT.121040859  DT.97858741  DT.100785624  DT.121040827  DT.87017230 
    DT.92420061  DT.95214207  DT.102838330 

    24/241 AceView cDNA sequences (see all 241):

    C04959 AK129892 CF552328 BU622616 T19640 AJ712314 AJ711313 BP375166 
    CR541795 AJ710388 BM142700 BP373166 N70639 AA039993 AA346915 AA775604 
    BX502865 C04447 AA330630 AA953615 AK129902 AJ710135 AA330934 NM_005159 

    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

    ACTC1 expression in normal human tissues (normalized intensities)      ACTC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACTC1 Expression
    About this image


    ACTC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 16 entries
             Cardiomyocytes Myocardium
             Heart Tube
             Cardiomyocyte progenitor cells
             heart/ventricle   
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             N2/LSB induced-cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Human Astrocytes   
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 13 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
             sensory organ/ear/inner ear   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 10 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 7 entries
             CyT49
             ESI-017   

    See ACTC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTC1

    SOURCE GeneReport for Unigene cluster: Hs.118127
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACTC1: 
              Wound Healing in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Stem Cells in human mouse rat

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    In Situ
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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 ACTC1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actc11 , 5 actin, alpha, cardiac muscle 11, 5 92.4(n)1
    100(a)1
      2 (57.55 cM)5
    114641  NM_009608.31  NP_033738.11 
     1140472825 
    chicken
    (Gallus gallus)
    Aves ACTC11 actin, alpha, cardiac muscle 1 86.38(n)
    100(a)
      423298  NM_001079481.1  NP_001072949.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ACTC16
    Uncharacterized protein
    99(a)
    98(a)
    possible ortholog
    1 ↔ 1
    GL343699.1(262445-268649)
    1(30299394-30316697)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041197.12   -- 87.91(n)    BC041197.1 
    zebrafish
    (Danio rerio)
    Actinopterygii actc1b1 actin, alpha, cardiac muscle 1b 87.18(n)
    98.94(a)
      58114  NM_131591.1  NP_571666.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT71 actin 7 75.86(n)
    88.59(a)
      830841  NM_121018.3  NP_196543.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01631001 hypothetical protein 78.07(n)
    88.86(a)
      4349863  NM_001072362.1  NP_001065830.1 


    ENSEMBL Gene Tree for ACTC1 (if available)
    TreeFam Gene Tree for ACTC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTC1 gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTRT12  ACTG12  ACTL7A2  
    ACTBL22  ACTL7B2  ACTR1B2  ACTA12  ACTRT32  
    18/34 SIMAP similar genes for ACTC1 using alignment to 1 protein entry:     ACTC_HUMAN(see all similar genes):
    ACTA2    PS1TP5BP1    ACTB    ACTBL2    ACTG1    ACT
    POTEF    POTEM    ACTG2    POTEE    POTEI    POTEJ
    POTEKP    ACTA1    ACTR1A    ACTR1B    ACTRT3    ACTRT1

    ACTC1 for paralogs           About GeneDecksing



    (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

    10/282 SNPs in ACTC1 are shown (see all 282)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0465034
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0465032 Y C mis40--------
    VAR_0465024
    Atrial septal defect 5 (ASD5)4--see VAR_0465022 M V mis40--------
    VAR_0459254
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0459252 R C mis40--------
    VAR_0128584
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0128582 P A mis40--------
    VAR_0128594
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0128592 A S mis40--------
    VAR_0459244
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0459242 H Y mis40--------
    VAR_0128624
    Cardiomyopathy, dilated 1R (CMD1R)4--see VAR_0128622 E G mis40--------
    VAR_0128574
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0128572 E K mis40--------
    VAR_0465044
    Cardiomyopathy, familial hypertrophic 11 (CMH11)4--see VAR_0465042 M L mis40--------
    VAR_0128604
    Cardiomyopathy, dilated 1R (CMD1R)4--see VAR_0128602 R H mis40--------

    HapMap Linkage Disequilibrium report for ACTC1 (35080297 - 35088340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACTC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv457106CNV Gain19166990
    nsv522411CNV Gain19592680


    Human Gene Mutation Database (HGMD): ACTC1

    Locus Specific Mutation Databases (LSDB): ACTC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTC1

    (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: 102540   
    OMIM disorders: 613424  612098  612794  
    UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032
  • Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]: A hereditary heart disorder characterized
    by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The
    symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by
    exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high
    risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete
    closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/190 diseases for ACTC1 (see all 190):    About MalaCards
    myoepithelioma    fasciitis    perivascular epithelioid cell tumor    myofibroma
    cutaneous leiomyosarcoma    cystic nephroma    pseudoangiomatous stromal hyperplasia    malignant giant cell tumor of soft parts
    glomangiomyoma    scleromyxedema    bizarre leiomyoma    disseminated peritoneal leiomyomatosis
    benign schwannoma    calcified aponeurotic fibroma    non-langerhans-cell histiocytosis    malignant giant cell tumor
    myxoid leiomyosarcoma    actc1-related familial hypertrophic cardiomyopathy    cardiomyopathy, familial hypertrophic, 11    left ventricular noncompaction 4

    3 diseases from the University of Copenhagen DISEASES database for ACTC1:
    Hypertrophic cardiomyopathy     Dilated cardiomyopathy     Nemaline myopathy

    ACTC1 for disorders           About GeneDecksing


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

    10/92 Novoseek inferred disease relationships for ACTC1 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoepithelioma 85.4 7 9431536 (2), 15619979 (1), 15717758 (1), 7542546 (1) (see all 6)
    leiomyosarcoma 84.8 19 14576480 (2), 9298873 (2), 8872438 (1), 8140724 (1) (see all 17)
    stromal tumors 84.2 2 19495761 (1), 7688213 (1)
    smooth muscle tumor 83.9 6 12090595 (1), 12296754 (1), 16400320 (1), 19722741 (1) (see all 6)
    gastrointestinal stromal tumor 82.2 6 18996821 (1), 18976023 (1), 15232741 (1), 12483251 (1)
    leiomyoma 79 20 15307213 (1), 18208801 (1), 14576480 (1), 16293183 (1) (see all 19)
    tumors 77.6 312 9237180 (2), 15692950 (2), 15295674 (2), 7773942 (2) (see all 99)
    angiomyolipoma 77.2 6 11485907 (1), 11033464 (1), 11914628 (1), 18620999 (1) (see all 6)
    rhabdoid tumor 73.6 1 11468564 (1)
    fibromatosis 72.8 5 16400320 (1), 19722741 (1), 14608534 (1), 15232741 (1) (see all 5)

    GeneTests: ACTC1
    GeneReviews: ACTC1
    Genetic Association Database (GAD): ACTC1
    Human Genome Epidemiology (HuGE) Navigator: ACTC1 (2 documents)

    Export disorders for ACTC1 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 ACTC1 gene, integrated from 9 sources (see all 969):
    (articles sorted by number of sources associating them with ACTC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 2, 4, 9 Morita H.... Seidman C.E. (2008)
    2. Alpha-cardiac actin mutations produce atrial septal defects. (PubMed id 17947298)1, 2, 9 Matsson H....Dahl N. (2008)
    3. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PubMed id 10330430)1, 2, 9 Mogensen J.... Boerglum A.D. (1999)
    4. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PubMed id 10966831)1, 2, 9 Olson T.M....Fananapazir L. (2000)
    5. Prevalence of sarcomere protein gene mutations in pre adolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (2009)
    6. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (2009)
    7. Mutations in sarcomere protein genes in left ventricular noncompaction. (PubMed id 18506004)1, 4, 9 Klaassen S....Thierfelder L. (2008)
    8. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. (PubMed id 9563954)1, 2, 9 Olson T.M.... Keating M.T. (1998)
    9. The role of Lamin A/C mutations in Danish patients wi th idiopathic dilated cardiomyopathy. (PubMed id 19875404)1, 4 MA...Christiansen M. (2009)
    10. Histologic characterization of hypertrophic cardiomyo pathy with and without myofilament mutations. (PubMed id 19853701)1, 4 McLeod C.J....Ackerman M.J. (2009)

    (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: 70 HGNC: 143 AceView: ACTC Ensembl:ENSG00000159251 euGenes: HUgn70
    ECgene: ACTC1 Kegg: 70 H-InvDB: ACTC1

    (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 ACTC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTC1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACTC1 gene:
    Search GeneIP for patents involving ACTC1

    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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