Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ACTN1 Gene

protein-coding   GIFtS: 67
GCID: GC14M069341

Actinin, Alpha 1

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
Actinin, Alpha 11 2     BDPLT152
Alpha-Actinin Cytoskeletal Isoform2 3     Actinin 1 Smooth Muscle2
Non-Muscle Alpha-Actinin-12 3     alpha-actinin-12
F-Actin Cross-Linking Protein2 3     

External Ids:    HGNC: 1631   Entrez Gene: 872   Ensembl: ENSG000000721107   OMIM: 1025755   UniProtKB: P128143   

Export aliases for ACTN1 gene to outside databases

Previous GC identifers: GC14M066846 GC14M063137 GC14M067330 GC14M067331 GC14M068410 GC14M049510


(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 ACTN1 Gene:
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins,
including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple
roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles
and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal,
cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help
anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and
maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACTN1 Gene: 
ACTN1 (actinin, alpha 1) is a protein-coding gene. Diseases associated with ACTN1 include familial hypertrophic cardiomyopathy, and hypertrophic cardiomyopathy, and among its related super-pathways are Focal Adhesion and Regulation of actin cytoskeleton. GO annotations related to this gene include integrin binding and calcium ion binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814
Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
This is a bundling protein

Gene Wiki entry for ACTN1 (Actinin, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACTN1 gene promoter:
         GR   AhR   Elk-1   Sp1   MyoD   Arnt   CREB   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACTN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTN1


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

Entrez Gene cytogenetic band: 14q24|14q22-q24   Ensembl cytogenetic band:  14q24.1   HGNC cytogenetic band: 14q24.1

ACTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTN1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M069341:  view genomic region     (about GC identifiers)

Start:
69,340,840 bp from pter      End:
69,446,157 bp from pter
Size:
105,318 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: ACTN1_HUMAN, P12814 (See protein sequence)
Recommended Name: Alpha-actinin-1  
Size: 892 amino acids; 103058 Da
Subunit: Homodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP. Interacts with PSD (By
similarity)
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane (By
similarity). Cell projection, ruffle (By similarity). Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of
heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By
similarity)
2 PDB 3D structures from and Proteopedia for ACTN1:
2EYI (3D)        2EYN (3D)    
Secondary accessions: B3V8S3 B4DHH3 Q1HE25 Q9BTN1
Alternative splicing: 3 isoforms:  P12814-1   P12814-2   P12814-3   

Explore the universe of human proteins at neXtProt for ACTN1: NX_P12814

Explore proteomics data for ACTN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12814

  • ACTN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACTN1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001093.1  NP_001123476.1  NP_001123477.1  

    ENSEMBL proteins: 
     ENSP00000193403   ENSP00000377941   ENSP00000414272   ENSP00000366035   ENSP00000452254  
     ENSP00000439828   ENSP00000444422   ENSP00000450625   ENSP00000450903   ENSP00000450764  
     ENSP00000450925   ENSP00000450618   ENSP00000452423   ENSP00000451086  
    Reactome Protein details: P12814
    Human Recombinant Protein Products for ACTN1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ACTN1
    OriGene Protein Over-expression Lysate for ACTN1
    OriGene MassSpec for ACTN1 
    OriGene Custom Protein Services for ACTN1
    GenScript Custom Purified and Recombinant Proteins Services for ACTN1
    Novus Biologicals ACTN1 Proteins
    Novus Biologicals ACTN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ACTN1
    Cloud-Clone Corp. Proteins for ACTN1 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005576extracellular region TAS--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA16464232
    GO:0005829cytosol TAS--

    ACTN1 for ontologies           About GeneDecksing



    ACTN1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTN1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for ACTN1 
    OriGene Antibodies for ACTN1
    OriGene Custom Antibody Services for ACTN1
    GenScript Custom Superior Antibodies Services for ACTN1
    Novus Biologicals ACTN1 Antibodies
    Abcam antibodies for ACTN1
    Cloud-Clone Corp. Antibodies for ACTN1 
    ThermoFisher Antibody for ACTN1
    LSBio Antibodies in human, mouse, rat for ACTN1 

    Assay Products for ACTN1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACTN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACTN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACTN1 
    Cloud-Clone Corp. CLIAs for ACTN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    5/9 InterPro protein domains (see all 9):
     IPR014837 EF-hand_Ca_insen
     IPR018247 EF_Hand_1_Ca_BS
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR011992 EF-hand-like_dom

    Graphical View of Domain Structure for InterPro Entry P12814

    ProtoNet protein and cluster: P12814

    3 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814
    Similarity: Belongs to the alpha-actinin family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 4 spectrin repeats


    ACTN1 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: ACTN1_HUMAN, P12814
    Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
    This is a bundling protein

         Genatlas biochemistry entry for ACTN1:
    actinin,alpha 1,actin filament cross-linking,calcium sensitive,cytoskeletal type,expressed in non muscle cells

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005178integrin binding IDA7983147
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10793131
    GO:0017166vinculin binding IPI15988023
         
    ACTN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACTN1:
     Decreased focal adhesion (FA)  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Actn1):
     no phenotypic analysis 

    ACTN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACTN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACTN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTN1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACTN1:
    hsa-mir-218 (MIRT005004)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTN1
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTN1 (see all 32):
    hsa-miR-3685 hsa-miR-3678-3p hsa-miR-607 hsa-miR-374a hsa-miR-30d hsa-miR-218 hsa-miR-507 hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidACTN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ACTN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACTN1
    Sirion Biotech Customized adenovirus for overexpression of ACTN1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ACTN1 (see all 16)
    OriGene ORF clones in mouse, rat for ACTN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ACTN1 (NM_001130004)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN1
    Sirion Biotech Customized lentivirus for stable overexpression of ACTN1 
                         Customized lentivirus expression plasmids for stable overexpression of ACTN1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACTN1
    Search LifeMap BioReagents cell lines for ACTN1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1


    (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 ACTN1 About   (see all 29)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    2Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    3Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.53
    4Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    5Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cytoskeleton remodeling Fibronectin-binding integrins in cell motility0.32
    Cytoskeleton remodeling Integrin outside-in signaling0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for ACTN1 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Integrin outside-in signaling
    Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
    Selected targets of GCR-alpha
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTN1 (see all 6)
        Sertoli-Sertoli Cell Junction Dynamics
    ILK Signaling
    Remodeling of Adherens Junctions
    Epithelial Tight Junctions
    Germ Cell-Sertoli Cell Junction Dynamics

    1 Cell Signaling Technology (CST) Pathway for ACTN1
        Cytoskeletal Signaling

    5/6 GeneGo (Thomson Reuters) Pathways for ACTN1 (see all 6)
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Endothelial cell contacts by junctional mechanisms
    Inhibitory action of Lipoxins on neutrophil migration

    5/6 BioSystems Pathways for ACTN1 (see all 6)
        Focal Adhesion
    Regulation of Actin Cytoskeleton
    Arrhythmogenic right ventricular cardiomyopathy
    Syndecan-4-mediated signaling events
    Stabilization and expansion of the E-cadherin adherens junction

    5/12        Reactome Pathways for ACTN1 (see all 12)
        Hemostasis
    Nephrin interactions
    Cell-extracellular matrix interactions
    Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
    Response to elevated platelet cytosolic Ca2+


    5/9         Kegg Pathways  (Kegg details for ACTN1) (see all 9):
        Focal adhesion
    Adherens junction
    Tight junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton


    ACTN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACTN1

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

    5/211 Interacting proteins for ACTN1 (P128141, 2, 3 ENSP000003779414) via UniProtKB, MINT, STRING, and/or I2D (see all 211)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN2Q997002, 3, ENSP000003668434MINT-2856533 MINT-2856514 I2D: score=2 STRING: ENSP00000366843
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2856652 MINT-2856671 I2D: score=2 STRING: ENSP00000344782
    MYOZ1Q9NP982, 3, ENSP000003522724MINT-68434 I2D: score=4 STRING: ENSP00000352272
    CAMK2AQ9UQM72, 3, ENSP000003814124MINT-45875 I2D: score=2 STRING: ENSP00000381412
    FXNQ165952, 3, ENSP000003664824MINT-2856633 I2D: score=2 STRING: ENSP00000366482
    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:0002576platelet degranulation TAS--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0034329cell junction assembly TAS--

    ACTN1 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

    ACTN1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACTN1

    1 Novoseek inferred chemical compound relationship for ACTN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 14.6 7 17898132 (2), 11802708 (1), 16547650 (1), 19920151 (1)

    Search CenterWatch for drugs/clinical trials and news about ACTN1

    (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 ACTN1 gene (3 alternative transcripts): 
    NM_001102.3  NM_001130004.1  NM_001130005.1  

    Unigene Cluster for ACTN1:

    Actinin, alpha 1
    Hs.509765  [show with all ESTs]
    Unigene Representative Sequence: BX641076
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000193403(uc010ttb.2 uc001xkm.3 uc001xkl.3 uc001xkn.3)
    ENST00000556083(uc001xkk.3) ENST00000553882 ENST00000394419(uc010ttc.2)
    ENST00000438964 ENST00000376839 ENST00000555075 ENST00000538545(uc001xko.1 uc010ttd.1)
    ENST00000544964 ENST00000553290 ENST00000556432 ENST00000556343 ENST00000555616
    ENST00000556433 ENST00000554508 ENST00000554158 ENST00000553370 ENST00000553779

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

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTN1
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTN1 (see all 32):
    hsa-miR-3685 hsa-miR-3678-3p hsa-miR-607 hsa-miR-374a hsa-miR-30d hsa-miR-218 hsa-miR-507 hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidACTN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ACTN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTN1
    Clone
    Products:
         
    OriGene clones in human, mouse for ACTN1 (see all 16)
    OriGene ORF clones in mouse, rat for ACTN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ACTN1 (NM_001130004)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN1
    Sirion Biotech Customized lentivirus for stable overexpression of ACTN1 
                         Customized lentivirus expression plasmids for stable overexpression of ACTN1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACTN1
    OriGene qSTAR qPCR primer pairs in human, mouse for ACTN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACTN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTN1

    Additional mRNA sequence: 

    AJ844628.2 AK022224.1 AK098203.1 AK124378.1 AK225782.1 AK294317.1 AK295099.1 AK298496.1 
    AK299362.1 BC003576.1 BC004984.1 BC015766.1 BC127124.1 BT007207.1 BX248020.1 BX641076.1 
    DQ496098.1 EU716325.1 FJ410030.1 M95178.1 X15804.1 X55187.1 

    24/56 DOTS entries (see all 56):

    DT.100771871  DT.100887428  DT.100766388  DT.91823921  DT.91782289  DT.95125704  DT.87017777  DT.120785717 
    DT.100887439  DT.91782278  DT.102839930  DT.91679968  DT.100887429  DT.100887448  DT.95287775  DT.100887434 
    DT.120785745  DT.100887445  DT.95276950  DT.91971379  DT.100660649  DT.100887419  DT.75110244  DT.75187470 

    24/699 AceView cDNA sequences (see all 699):

    BQ937747 BX248020 AL119658 BE701572 AA076375 BC004984 BQ017489 BM907748 
    BE219468 BM843750 BQ648953 BQ672899 BU541027 BE701568 CA444707 CB265268 
    AI139065 CR609497 AA570154 CF619236 CA397035 CF125358 CB111870 AA316050 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ACTN1 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^
    SP1:              -     -           -                                                                             -                                             
    SP2:                                                                                                              -                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:              -     -     -     -     -                                                                                                                     

    ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
    SP1:  -                 -                 -                     
    SP2:  -                 -     -     -                           
    SP3:                                                            
    SP4:  -                 -     -     -     -                     
    SP5:                                                            


    ECgene alternative splicing isoforms for ACTN1

    (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

    ACTN1 expression in normal human tissues (normalized intensities)      ACTN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTTCTCCA
    ACTN1 Expression
    About this image


    ACTN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Vascular Smooth Muscle Cells Dorsal Aorta
             Cardiomyocyte progenitor cells
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Smooth Muscle (Muscoskeletal System)
             Vascular Smooth Muscle Cells Dorsal Aorta

    See ACTN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTN1

    SOURCE GeneReport for Unigene cluster: Hs.509765
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACTN1: 
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACTN1
    OriGene qSTAR qPCR primer pairs in human, mouse for ACTN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ACTN1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTN1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1

    (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 animals.

    Orthologs for ACTN1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actn11 , 5 actinin, alpha 11, 5 91.52(n)1
    99.22(a)1
      12 (36.49 cM)5
    1097111  NM_134156.21  NP_598917.11 
     801675425 
    chicken
    (Gallus gallus)
    Aves ACTN11 actinin, alpha 1 85.01(n)
    97.51(a)
      373918  NM_204127.1  NP_989458.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACTN16
    --
    Uncharacterized protein
    97(a)
    81(a)
    1 ↔ 1
    possible ortholog
    GL343272.1(123209-243409)
    GL343832.1(92406-123216)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.183872 Xenopus laevis mRNA similar to actinin, alpha 1 (cDNA more 81.12(n)    BC043995.1 
    zebrafish
    (Danio rerio)
    Actinopterygii actn11 actinin, alpha 1 81.72(n)
    93.81(a)
      560400  NM_001168286.1  NP_001161758.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Actn1 , 3 cytoskeletal anchoring actin binding3
    alpha actinin1
    68(a)3
    70.79(n)1
    70.37(a)1
      311661  NM_058137.41  NP_477485.11 
    worm
    (Caenorhabditis elegans)
    Secernentea atn-11 Protein ATN-1 59.47(n)
    62.67(a)
      179709  NM_073726.4  NP_506127.1 


    ENSEMBL Gene Tree for ACTN1 (if available)
    TreeFam Gene Tree for ACTN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTN1 gene
    ACTN42  SPTBN22  SYNE22  SPTA12  SPTBN42  SPTB2  SPTBN12  ACTN22  
    SPTBN52  SPTAN12  SYNE12  CLMN2  
    18/32 SIMAP similar genes for ACTN1 using alignment to 14 protein entries:     ACTN1_HUMAN (see all proteins) (see all similar genes):
    MLL-ACTN4    ACTN4    ACTN2    ACTN3    UTRN    DMD
    CLMN    EHBP1L1    MICAL3    PLEC    MACF1    DST
    HSpTB1    DIXDC1    SPTBN4    NAV3    SPTBN1    ACF7

    ACTN1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ACTN1
    PGOHUM00000259405 PGOHUM00000244676


    (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

    10/2378 SNPs in ACTN1 are shown (see all 2378)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416284521,2
    Cuntested150340454(+) TCCGAG/AAGGGT 6 /L syn11Minor allele frequency- A:0.00NA 4552
    rs106807001,2
    C--49517273(+) CACAC-/AC/ACAC/AC
    ACAC
    /ACACACAC
    TCTTG
    6 -- int1 cds11CSA 4
    rs1814621,2
    C,F,O--49518705(-) CATACG/TAGGGT 3 -- int113Minor allele frequency- T:0.49NA WA CSA EA 513
    rs585002251,2
    C--49518749(+) TTTTG-/GA/TGA
            
    GACAG
    6 -- int1 cds10--------
    rs3777629091,2
    C--49523587(+) CGTTT-/AAAAAA 3 -- int10--------
    rs347694021,2
    C--49524175(+) CTACT-/AAAAAA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1814751,2
    C,F,O,A--49524728(+) TGTTTG/ACACTT 3 -- int16Minor allele frequency- A:0.13MN CSA WA NA EA 545
    rs1814771,2
    F,H--49524763(+) CTGCTG/ACGTTT 3 -- int18Minor allele frequency- A:0.02EA NA MN NS 658
    rs2007538161,2
    --49536007(+) CCCTC-/CA    
       CACCA
    CACAC
    3 -- int10--------
    rs1479170361,2
    C--49536012(+) CACAC-/CACACAC 3 -- int10--------

    HapMap Linkage Disequilibrium report for ACTN1 (69340840 - 69446157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACTN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv902074CNV Loss21882294
    nsv456333CNV Loss19166990
    nsv832823CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTN1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTN1

    (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: 102575    OMIM disorders: --

    20/29 diseases for ACTN1 (see all 29):    About MalaCards
    familial hypertrophic cardiomyopathy    hypertrophic cardiomyopathy    lipoma    sickle cell anemia
    limb-girdle muscular dystrophy    soft tissue sarcoma    dilated cardiomyopathy    wilms tumor
    muscular dystrophy    macular degeneration    endometriosis    lung adenocarcinoma
    astrocytoma    ataxia    anemia    sarcoma
    systemic lupus erythematosus    hepatitis c    lupus erythematosus    neuroblastoma


    ACTN1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ACTN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 5 18320066 (3)

    Genetic Association Database (GAD): ACTN1
    Human Genome Epidemiology (HuGE) Navigator: ACTN1 (1 document)

    Export disorders for ACTN1 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 ACTN1 gene, integrated from 9 sources (see all 187):
    (articles sorted by number of sources associating them with ACTN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and chromosomal localization of the human cytoskeletal alpha- actinin gene reveals linkage to the beta-spectrin gene. (PubMed id 2349951)1, 2, 3 Youssoufian H.... Kwiatkowski D.J. (1990)
    2. Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring. (PubMed id 16464232)1, 2, 9 Kremerskothen J.... Barnekow A. (2006)
    3. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    4. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PubMed id 19247474)1, 4 Caporaso N....Bergen A.W. (2009)
    5. Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. (PubMed id 18353764)1, 2 Thorsen K....Orntoft T.F. (2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    9. The lipoma preferred partner LPP interacts with alpha-actinin. (PubMed id 12615977)1, 2 Li B.... Trueb B. (2003)
    10. The cytoskeletal/non-muscle isoform of alpha-actinin is phosphorylated on its actin-binding domain by the focal adhesion kinase. (PubMed id 11369769)1, 2 Izaguirre G.... Haimovich B. (2001)

    (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: 87 HGNC: 163 AceView: ACTN1 Ensembl:ENSG00000072110 euGenes: HUgn87
    ECgene: ACTN1 Kegg: 87 H-InvDB: ACTN1

    (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 ACTN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACTN1 gene:
    Search GeneIP for patents involving ACTN1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTN1
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ACTN1   OriGene RNAi products in human, mouse, rat for ACTN1  
     OriGene qPCR primer pairs and template standards for ACTN1   OriGene Protein Over-expression Lysate for ACTN1  
     OriGene MassSpec something-or-other for ACTN1   OriGene clones in human, mouse for ACTN1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ACTN1   OriGene Purified Protein for ACTN1  
     OriGene ORF clones in mouse, rat for ACTN1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ACTN1   OriGene Custom Protein Services for ACTN1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ACTN1
     QIAGEN SeqTarget long-range PCR primers for resequencing ACTN1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTN1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACTN1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTN1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACTN1
     GenScript Custom Purified and Recombinant Proteins Services for ACTN1 GenScript cDNA clones with any tag delivered in your preferred vector for ACTN1
     GenScript Custom Assay Services for ACTN1 GenScript Custom Superior Antibodies Services for ACTN1
     GenScript Custom overexpressing Cell Line Services for ACTN1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for ACTN1 

     Regulatory tfbs in ACTN1 promoter
     Search Chromatin IP Primers for ACTN1
     RT2 qPCR Primer Assay in human, mouse, rat ACTN1
     GNC Network for ACTN1
     SABiosciences PCR Arrays including human, mouse, rat ACTN1
     Search Tocris compounds for ACTN1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ACTN1 antibodies
     ACTN1 proteins
     ACTN1 lysates
     Antibodies for ACTN1
     See all of Abcam's Antibodies, Kits and Proteins for ACTN1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ACTN1




     Proteins for ACTN1
     Antibodies for ACTN1
     ELISAs for ACTN1
     CLIAs for ACTN1
     Search LifeMap BioReagents cell lines for ACTN1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1
     SwitchGear 3'UTR luciferase reporter plasmids for ACTN1
     SwitchGear Promoter luciferase reporter plasmids for ACTN1
     ThermoFisher Antibody for ACTN1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ACTN1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACTN1
    Customized:
     lentivirus for stable overexpression of ACTN1
     lentivirus expression plasmids for stable overexpression of ACTN1
     adenovirus for overexpression of ACTN1
     LSBio Antibodies in human, mouse, rat for ACTN1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ACTN1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4