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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)
 Explore 46 diseases affiliated with
ACTA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACTA1    

Aliases
for ACTA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Actin, Alpha 1, Skeletal Muscle1 2     CFTDM2
ACTA1 2 3     MPFD2
NEM31 2 5     NEM22
ASMA2 5     Actin, Alpha Skeletal Muscle2
CFTD12 5     Nemaline Myopathy Type 32
NEM12 5     Alpha-Actin-11
CFTD2     

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

Export aliases for ACTA1 gene to outside databases

Previous GC identifers: GC01M228014 GC01M225261 GC01M225966 GC01M226528 GC01M225873 GC01M227633 GC01M200057


Summaries
for ACTA1 gene

(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:
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)

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:
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)


Genomic Views
for ACTA1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
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 plasmid: ACTA1 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

Proteins
for ACTA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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. 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

Post-translational modifications:

  • 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)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P68133

    • ACTA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001091.1  
    ENSEMBL proteins: 
     ENSP00000355645   ENSP00000312351   ENSP00000355643   ENSP00000355644  
    Reactome Protein details: P68133
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for ACTA1
    Uscn Proteins for ACTA1

    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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    Uscn ELISAs and CLIAs for ACTA1

    Protein Domains /
    Families
    for ACTA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACTA1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for ACTA1 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTA1
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTA1 (see all 19):
    hsa-miR-495 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-3692 hsa-let-7g hsa-let-7a hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmid: ACTA1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACTA1 (see all 4)
    OriGene shRNA RFP: ACTA1
    OriGene siRNA: ACTA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTA1

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTA1 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: ACTA1 (NM_001100)
    Sino Biological Human cDNA Clone for ACTA1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTA1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ACTA1

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ACTA1

    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


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

    Animal Models:
         Mouse knock-out Acta1tm1Jll for ACTA1
         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


    Pathways & Interactions
    for ACTA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/42 super-pathways (see all 42) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeleton remodeling Slit-Robo signaling
    		Cytoskeleton remodeling Slit-Robo signaling1.00
    		Cell adhesion_Cadherin-mediated cell adhesion0.28
    		Development_Slit-Robo signaling0.92
    		Cell adhesion Cadherin-mediated cell adhesion0.28
    2Actin Nucleation by ARP-WASP Complex
    		Actin Nucleation by ARP-WASP Complex1.00
    		RhoA Pathway0.35
    		Actin Nucleation and Branching0.66
    		CDC42 Pathway0.34
    3Clathrin-dependent protein traffic
    		Clathrin-dependent protein traffic1.00
    		wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    		Transport_Clathrin-coated vesicle cycle0.66
    4CCR3 Pathway in Eosinophils
    		CCR3 Pathway in Eosinophils1.00
    		Internalin Pathway0.19
    		fMLP Pathway0.43
    5VEGF Family Ligands and Receptor Interactions
    		VEGF Family Ligands and Receptor Interactions1.00
    		CCKBR-Gastrin Stimulated Signaling0.28
    		VEGF Pathway0.66

    Pathway sources
    See GeneCards unified pathways
    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) 
        Hypothetical Network for Drug Addiction
    Myometrial Relaxation and Contraction Pathways
    RhoA signaling pathway
    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)

    5/240 Interacting proteins for ACTA1 (P681332, 3 ENSP000003556454) via UniProtKB, MINT, STRING, and/or I2D (see all 240)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSNP063962, 3, ENSP000003629244MINT-24898 I2D: score=5 STRING: ENSP00000362924
    GCP027742, 3, ENSP000002739514MINT-24830 MINT-24961 I2D: score=4 STRING: ENSP00000273951
    SRCP129312, 3, ENSP000003509414MINT-6794909 I2D: score=1 STRING: ENSP00000350941
    PTPN1P180312, 3, ENSP000003606834MINT-6794878 I2D: score=1 STRING: ENSP00000360683
    TNNI3KQ59H183, ENSP000003599284I2D: score=3 STRING: ENSP00000359928
    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



    Drugs & Compounds
    for ACTA1 gene

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

    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 #
    187-1, N-WASP inhibitor Inhibits actin assembly[380488-27-7]
    Cytochalasin DDisrupts actin filament function[22144-77-0]
    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 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 

    Transcripts
    for ACTA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ACTA1 gene: 
    NM_001100.3  

    Unigene Cluster for ACTA1:

    Actin, alpha 1, skeletal muscle
    Hs.1288  [show with all ESTs]
    Unigene Representative Sequence: BC012597
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366684(uc001htm.3) ENST00000308794 ENST00000366682 ENST00000366683


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    hsa-miR-495 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-3692 hsa-let-7g hsa-let-7a hsa-miR-7-1*
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    F17541 F30034 AA194516 F16637 F16625 C05174 F37451 CR536516 
    AA346058 F35268 AA313901 CF552423 F16866 AA211587 BF790524 AA346182 
    F37568 AA313853 F17003 F18677 F37407 F25909 BU737583 AA194787 

    GeneLoc Exon Structure


    Expression
    for ACTA1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGATCAAGA

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

    ACTA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/47 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 47) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMononuclear MyocyteSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMultinuclear MyocyteSkeletal Muscle
    Skeletal MuscleHyoid Arch MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13) 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Endothelial progenitor cells (Derivation and purif...)
    Smooth muscle-like cells (Generation of endoth...)
    Cardiomyocyte-like cells (Spontaneous differen...)
    Skeletal muscle-like cells (Generation of skelet...)
    Skeletal myocytes (Generation of skelet...)
    Endothelial-like cells (Generation of endoth...)

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ACTA1 gene

    (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 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 83(a)
    100(a)
    		 possible ortholog
    1 ↔ 1
    		 GL343721.1(263114-263356)
    1(222205572-222209856)
    zebrafish
    (Danio rerio)    		 Actinopterygii AF180887.12   -- 86.89(n)   58114  AF180887.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Act5C3 cytoskeleton organization and biogenesis
    structural more    		 93(a)
    (best of 7)    		   5C7   --
    worm
    (Caenorhabditis elegans)    		 Secernentea act-23 actin 94(a)
    (best of 5)    		   V(11079402-11080517)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ACT36
    ACT76
    (see all 11)    		 actin 7
    (see all 11)    		 87(a)
    87(a)
    (see all 11)    		 many ↔ many
    many ↔ many
    (see all 11)    		 3(19915288-19917641)
    5(3052097-3054614)
    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
    for ACTA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTA1 gene
    ACTG22  ACTA22  ACTRT22  ACTB2  ACTR1A2  ACTC12  ACTL92  ACTRT12  
    ACTG12  ACTL7A2  ACTBL22  ACTL7B2  ACTR1B2  ACTRT32  
    18/31 SIMAP similar genes for ACTA1 using alignment to 5 protein entries:     ACTS_HUMAN (see all proteins) (see all similar genes):
    ACTB    ACT    ACTG2    ACTG1    ACTA2    ACTC1
    PS1TP5BP1    ACTBL2    POTEF    POTEE    POTEI    POTEKP
    POTEJ    ACTR1B    ACTR3C    ACTRT3    ACTR2    ACTR1A

    ACTA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ACTA1
    PGOHUM00000242350


    Genomic Variants
    for ACTA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/122 NCBI SNPs in ACTA1 are shown (see all 122)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219095221,2
    		Cpathogenic200059102(-) ACAACA/G/TTGCCC 3 M V L mis10--------
    rs1120031671,2
    		C--200057957(+) ACTTTT/ACGCAG 1 -- ut311Minor allele frequency- A:0.00CSA 1
    rs592282241,2
    		C,--200058646(+) AAGCT-/CGGGGC 1 -- int13Minor allele frequency- C:0.12CSA 8
    rs412714791,2
    		C--200059395(+) GCCTCG/TGTGAG 2 T syn11Minor allele frequency- T:0.00NA 4506
    rs1166413551,2
    		C,F,--200060037(+) CCCTGA/CACCAG 1 -- int11Minor allele frequency- C:0.04WA 118
    rs731122531,2
    		C,F,--200060956(+) GCCCGG/TGTCCC 1 -- us2k13Minor allele frequency- T:0.11WA CSA 122
    rs802382861,2
    		C,--200061111(+) GCGTTC/TGCCGG 1 -- us2k12Minor allele frequency- T:0.11WA 120
    rs665210731,2
    		C,F,--200061479(+) CCGCAC/GAGAGG 1 -- us2k18Minor allele frequency- G:0.27NA CSA WA EA 368
    rs766092871,2
    		F,--200061714(+) CAGGTT/CTTGGT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs731122581,2
    		--200062169(+) CTGTCC/TCTCTC 1 -- us2k11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for ACTA1 (229566992 - 229569845 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ACTA1: --
    Human Gene Mutation Database (HGMD): ACTA1

    Locus Specific Mutation Databases (LSDB): ACTA1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ACTA1 gene

    (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.)
    About This Section
    ACTA1 for disorders           About GeneDecksing

    OMIM gene information: 102610   
    OMIM disorders: 161800  255310  
    UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133
  • Defects in ACTA1 are the cause of nemaline myopathy type 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-or rod-like structures in muscle fibers on histologic examination. The phenotype at histological level
    is variable. Some patients present areas devoid of oxidative activity containg (cores) within myofibers. Core lesions
    are unstructured and poorly circumscribed
  • Defects in ACTA1 are a cause of 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
  • Defects in ACTA1 are a cause of congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]; also
    • known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is a genetically heterogeneous disorder in which
    there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However,
    these findings are not specific and can be found in many different myopathic and neuropathic conditions

    20/46 diseases for ACTA1 (see all 46):    About MalaCards
    congenital fiber-type disproportion    myopathy, actin, congenital, with excess of thin myofilaments    myopathy    myopathy, congenital, with fiber-type disproportion 1
    nemaline myopathy    myopathy, actin, congenital, with cores    nance-horan syndrome    limb-girdle muscular dystrophy
    ruptured thoracic aortic aneurysm    intestinal pseudo-obstruction    intranuclear rod myopathy    cap myopathy
    rod myopathy    myopathy congenital    myotonic dystrophy    listeriosis
    congenital myotonic dystrophy    neuromuscular disease    respiratory failure    muscular dystrophy

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

    10/12 Novoseek 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
    Congenital Fiber-Type Disproportion
    Nemaline Myopathy

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

    Export disorders for ACTA1 gene to outside databases

    Publications
    for ACTA1 gene

    (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 411):
    (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)

    External Searches for ACTA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing ACTA1 gene

    (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

    Other Databases showing ACTA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACTA1 gene

    (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

    Intellectual Property
    for ACTA1 gene

    (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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