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ACTC1 Gene

protein-coding   GIFtS: 65
GCID: GC15M035080

Actin, Alpha, Cardiac Muscle 1

(Previous names: actin, alpha, cardiac muscle)
(Previous symbol: ACTC)
  See ACTC1-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, 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fasciitis, and disseminated peritoneal leiomyomatosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for ACTC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • 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, Lys293, Lys317, Lys328,
                                 Lys330
  • Modification sites at PhosphoSitePlus

  • See ACTC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005150.1  
    ENSEMBL proteins: 
     ENSP00000290378  
    Reactome Protein details: P68032

    ACTC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ACTC1

     
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    Cloud-Clone Corp. ELISAs for ACTC1
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    Search eBioscience for ELISAs for ACTC1 


    (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 P68032

    ProtoNet protein and cluster: P68032

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


    Find genes that share domains with ACTC1           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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IDA16611632
    GO:0016887ATPase activity IDA16611632
    GO:0017022myosin binding IPI16611632
         
    Find genes that share ontologies with ACTC1           About GenesLikeMe


    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/body  homeostasis/metabolism  mortality/aging 
     muscle  normal 

    Find genes that share phenotypes with ACTC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Actc1tm1Jll for ACTC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target ACTC1:
    hsa-mir-1 (MIRT023839)

    Block miRNA regulation of human, mouse, rat ACTC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACTC1 (see all 27):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-361-5p hsa-miR-495 hsa-miR-3942-5p hsa-miR-25 hsa-miR-30d hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidACTC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACTC1
    Predesigned siRNA for gene silencing in human, mouse, rat ACTC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACTC1

    Clone
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    OriGene clones in human, mouse for ACTC1 (see all 7)
    OriGene ORF clones in mouse, rat for ACTC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACTC1 (NM_005159)
    Sino Biological Human cDNA Clone for ACTC1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTC1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTC1


    (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
    ACTC_HUMAN, P68032: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005884actin filament IDA16611632
    GO:0030017sarcomere IDA16288873

    Find genes that share ontologies with ACTC1           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 ACTC1 About   (see all 13)  
    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
    3Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Cell adhesion Tight junctions0.33
    5Striated Muscle Contraction
    Striated Muscle Contraction0.82


    Find genes that share SuperPaths with ACTC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ACTC1
        HOP Signaling

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

    Selected 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


    1 Reactome Pathway for ACTC1
        Striated Muscle Contraction


    4 Kegg Pathways  (Kegg details for ACTC1):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTC1: 
              Wound Healing in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACTC1

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

    Selected Interacting proteins for ACTC1 (P680322, 3 ENSP000002903784) via UniProtKB, MINT, STRING, and/or I2D (see all 262)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503620 I2D: score=1 STRING: ENSP00000363390
    GAPDHP044062, 3, ENSP000002292394MINT-8256327 I2D: score=2 STRING: ENSP00000229239
    ABLIM3O949293, ENSP000003103094I2D: score=2 STRING: ENSP00000310309
    AFAP1Q8N5563, ENSP000004106894I2D: score=2 STRING: ENSP00000410689
    MPC1Q9Y5U83, ENSP000003542234I2D: score=2 STRING: ENSP00000354223
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    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--

    Find genes that share ontologies with ACTC1           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 

    Browse Tocris compounds for ACTC1 (ACTC)

    Selected 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)



    Find genes that share compounds with ACTC1           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 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
    miRNA
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    hsa-miR-142-5p hsa-miR-30c hsa-miR-361-5p hsa-miR-495 hsa-miR-3942-5p hsa-miR-25 hsa-miR-30d hsa-miR-340
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      QuantiFast Probe-based Assays in human, mouse, rat ACTC1

    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 

    Selected AceView cDNA sequences (see all 241):

    N70639 AK129892 W78033 AJ710135 CF552328 BX502865 BP375166 BM848240 
    AA346915 AJ711313 AA775604 AA330630 NM_005159 N89169 AA039993 AJ712314 
    AJ708424 CR541795 AA330934 BM847198 AJ710388 CA976073 C04959 C04447 

    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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    ACTC1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 25) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 12 entries
             Cardiomyocytes Myocardium
             Heart Tube
             Cardiomyocyte progenitor cells
             Cardiomyocyte-like cells
     
     Bone (Muscoskeletal System)    fully expand to see all 11 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 10 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             N2/LSB induced-cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Multinuclear Myocyte Extraocular Muscles
    ACTC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118127
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTC1: 
              Wound Healing in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Stem Cells in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for ACTC1
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    QuantiFast Probe-based Assays in human, mouse, rat ACTC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTC1

    (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 ACTC1 gene from Selected species (see all 14)    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
    actin, alpha, cardiac muscle 1
    98(a)
    1 ↔ 1
    1(30299394-30316697)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041197.12   -- 87.91(n)    BC041197.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:867091 zgc:86709 85.68(n)
    99.73(a)
      570210  NM_001002066.1  NP_001002066.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT71 ACT7 75.86(n)
    88.59(a)
      830841  NM_121018.3  NP_196543.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01631001 Os11g0163100 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)
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    Paralogs for ACTC1 gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTRT12  ACTG12  ACTBL22  
    ACTR1B2  ACTA12  ACTRT32  
    Selected 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    ACTR1A    ACTA1    ACTR1B    ACTRT3    ACTRT1

    Find genes that share paralogs with ACTC1           About GenesLikeMe



    (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 ACTC1 (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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for ACTC1 (see all 95):    
    About MalaCards
    fasciitis    disseminated peritoneal leiomyomatosis    malignant giant cell tumor of soft parts    ovarian fibrothecoma
    actc1-related familial hypertrophic cardiomyopathy    chickenpox    benign schwannoma    granulosa cell tumor of the ovary
    cardiomyopathy, familial hypertrophic, 11    glomangiomyoma    myofibroma    atrial septal defect 5
    cardiomyopathy, dilated, 1r    scleromyxedema    perivascular epithelioid cell tumor    actc1-related dilated cardiomyopathy
    botryoid rhabdomyosarcoma    bizarre leiomyoma    malignant giant cell tumor    pulmonary vein stenosis

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

    Find genes that share disorders with ACTC1           About GenesLikeMe

    Selected 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

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    PubMed articles for ACTC1 gene, integrated from 10 sources (see all 974):
    (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. (N. Engl. J. Med. 2008)
    2. Alpha-cardiac actin mutations produce atrial septal defects. (PubMed id 17947298)1, 2, 9 Matsson H.... Dahl N. (Hum. Mol. Genet. 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. (J. Clin. Invest. 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. (J. Mol. Cell. Cardiol. 2000)
    5. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (Circ Cardiovasc Genet 2009)
    6. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (Eur. J. Hum. Genet. 2009)
    7. Mutations in sarcomere protein genes in left ventricular noncompaction. (PubMed id 18506004)1, 4, 9 Klaassen S....Thierfelder L. (Circulation 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. (Science 1998)
    9. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. (PubMed id 19875404)1, 4 MA...Christiansen M. (Eur. J. Heart Fail. 2009)
    10. Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations. (PubMed id 19853701)1, 4 McLeod C.J....Ackerman M.J. (Am. Heart J. 2009)

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

    (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 ACTC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACTC1[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 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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