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ACTN1 Gene

protein-coding   GIFtS: 68
GCID: GC14M069341

Actinin, Alpha 1

  See ACTN1-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
Actinin, Alpha 11 2     BDPLT152 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bleeding disorder, platelet-type, 15, and macrothrombocytopenia, autosomal dominant, tubb1-related. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 Chromatin IP Primers for ACTN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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. Interacts
with MICALL2 (By similarity)
2 PDB 3D structures from and Proteopedia for ACTN1:
2EYI (3D)        2EYN (3D)    
Secondary accessions: B3V8S3 B4DHH3 B7TY16 Q1HE25 Q9BTN1
Alternative splicing: 4 isoforms:  P12814-1   P12814-2   P12814-3   P12814-4   

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

Explore proteomics data for ACTN1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys35, Lys331, Lys398, Lys633
  • Modification sites at PhosphoSitePlus

  • See ACTN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ACTN1 Human Recombinant Protein Products:

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    Novus Biologicals ACTN1 Proteins
    Novus Biologicals ACTN1 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ACTN1
    Cloud-Clone Corp. Proteins for ACTN1

     
    Search eBioscience for Proteins for ACTN1 

     
    antibodies-online proteins for ACTN1 (7 products) 

     
    antibodies-online peptides for ACTN1

    ACTN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTN1
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    ACTN1 Assay Products:

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    antibodies-online kits for ACTN1 (7 products) 


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

    Selected InterPro protein domains (see all 8):
     IPR014837 EF-hand_Ca_insen
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018159 Spectrin/alpha-actinin

    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


    Find genes that share domains with ACTN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003725double-stranded RNA binding IDA--
    GO:0003779actin binding ----
    GO:0005178integrin binding IDA7983147
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10793131
         
    Find genes that share ontologies with ACTN1           About GenesLikeMe


    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 

    Find genes that share phenotypes with ACTN1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACTN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACTN1:
    hsa-mir-615-3p (MIRT039867), hsa-mir-93-3p (MIRT038768), hsa-mir-1 (MIRT023743), hsa-mir-16-5p (MIRT051157), hsa-mir-193b-3p (MIRT016362), hsa-mir-218-5p (MIRT005004)

    Block miRNA regulation of human, mouse, rat ACTN1 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat ACTN1

    Gene Editing
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    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
    Addgene plasmids for ACTN1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN1


    (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
    ACTN1_HUMAN, P12814: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane (By
    similarity). Cell junction (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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    cytosol4
    nucleus2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with ACTN1           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 ACTN1 About   (see all 28)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    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 cardiomyopathy0.54
    4Cell junction organization
    Cell junction organization0.70
    Regulation of cytoskeletal remodeling and cell spreading by IPP complex components0.00
    Cell-Cell communication0.64
    Cell-extracellular matrix interactions0.00
    5Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38


    Find genes that share SuperPaths with ACTN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    Selected 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

    4 Reactome Pathways for ACTN1
        Nephrin interactions
    Platelet degranulation
    Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
    Syndecan interactions


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for ACTN1

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

    Selected Interacting proteins for ACTN1 (P128141, 2, 3 ENSP000003779414) via UniProtKB, MINT, STRING, and/or I2D (see all 314)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEA11P433642, 3, ENSP000003473584MINT-67745 I2D: score=4 STRING: ENSP00000347358
    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
    HSP90AB1P082382, 3MINT-72665 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    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--

    Find genes that share ontologies with ACTN1           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 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)



    Find genes that share compounds with ACTN1           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 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
    Selected 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

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    Selected qRT-PCR 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
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      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 699):

    BC003576 BE208809 BI850720 BE313328 AU131597 BM989999 CD722546 BQ425462 
    BM928659 BM907748 BE410249 BU859292 BU520922 CB111870 BQ223770 CB157916 
    CB161096 CF890756 BM693833 CA397035 AA076375 AI302243 AL119658 BM695526 

    GeneLoc Exon Structure

    Selected 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™, 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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    ACTN1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 17) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 11 entries
             Vascular Smooth Muscle Cells Dorsal Aorta
             Cardiomyocyte progenitor cells
             Early cardiomyocytes
     
     NULL (Cardiovascular System)    fully expand to see all 4 entries
             Early cardiomyocytes
     
     Smooth Muscle (Muscoskeletal System)
             Vascular Smooth Muscle Cells Dorsal Aorta
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             T-Cytotoxic Cells Peripheral Blood
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
    ACTN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509765
        Pathway & Disease-focused RT2 Profiler 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
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ACTN1 gene from Selected species (see all 13)    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
    actinin, alpha 1
    97(a)
    1 ↔ 1
    GL343272.1(123209-243409)
    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 


    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)
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    Paralogs for ACTN1 gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTB2  SPTBN12  ACTN22  
    SPTBN52  SPTAN12  SYNE12  CLMN2  
    Selected SIMAP similar genes for ACTN1 using alignment to 13 protein entries:     ACTN1_HUMAN (see all proteins) (see all similar genes):
    MLL-ACTN4    ACTN4    ACTN2    ACTN3    DMD    CLMN
    EHBP1L1    MICAL3    PLEC    DST    MACF1    HSpTB1
    SPTBN4    DIXDC1    SPTBN1    ACF7    NAV3    FLNA

    Find genes that share paralogs with ACTN1           About GenesLikeMe


    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), 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 ACTN1 (see all 2385)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699144
    Bleeding disorder, platelet-type 15 (BDPLT15)4--see VAR_0699142 E K mis40--------
    VAR_0699154
    Bleeding disorder, platelet-type 15 (BDPLT15)4--see VAR_0699152 R W mis40--------
    VAR_0699104
    Bleeding disorder, platelet-type 15 (BDPLT15)4--see VAR_0699102 Q K mis40--------
    VAR_0699114
    Bleeding disorder, platelet-type 15 (BDPLT15)4--see VAR_0699112 R Q mis40--------
    VAR_0699164
    Bleeding disorder, platelet-type 15 (BDPLT15)4--see VAR_0699162 R Q mis40--------
    VAR_0699124
    Bleeding disorder, platelet-type 15 (BDPLT15)4--see VAR_0699122 V I mis40--------
    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--------

    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

    Human Gene Mutation Database (HGMD): ACTN1
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 102575   
    OMIM disorders: 615193  
    UniProtKB/Swiss-Prot: ACTN1_HUMAN, P12814
  • Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]: An autosomal dominant form of
    macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis.
    Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro
    functional abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for ACTN1:    
    About MalaCards
    bleeding disorder, platelet-type, 15    macrothrombocytopenia, autosomal dominant, tubb1-related


    Find genes that share disorders with ACTN1           About GenesLikeMe

    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)
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    PubMed articles for ACTN1 gene, integrated from 10 sources (see all 191):
    (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. (Am. J. Hum. Genet. 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. (J. Neurochem. 2006)
    3. ACTN1 mutations cause congenital macrothrombocytopenia. (PubMed id 23434115)1, 2 Kunishima S....Ogawa S. (Am. J. Hum. Genet. 2013)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PubMed id 19247474)1, 4 Caporaso N....Bergen A.W. (PLoS ONE 2009)
    6. Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. (PubMed id 18353764)1, 2 Thorsen K.... Orntoft T.F. (Mol. Cell. Proteomics 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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. (Genome Res. 2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. The lipoma preferred partner LPP interacts with alpha-actinin. (PubMed id 12615977)1, 2 Li B.... Trueb B. (J. Cell Sci. 2003)

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

    (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 ACTN1 Pharmacogenomics, SNPs, Pathways

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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, 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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