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

ACTB Gene

protein-coding   GIFtS: 70
GCID: GC07M005566

actin, beta

 Explore 35 diseases affiliated with
ACTB via our new
 Human Malady Compendium 
Biological research products
for ACTB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Actin, Beta1 2     Beta Cytoskeletal Actin2
BRWS12     PS1TP5-Binding Protein 12
PS1TP5BP12     Beta-Actin1
Actin, Cytoplasmic 12     

External Ids:    HGNC: 1321   Entrez Gene: 602   Ensembl: ENSG000000756247   OMIM: 1026305   UniProtKB: P607093   

Export aliases for ACTB gene to outside databases

Previous GC identifers: GC07M005211 GC07M005311 GC07M005340 GC07M005533 GC07M005479


(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 ACTB:
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell
motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two
nonmuscle cytoskeletal actins. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
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 ACTB:
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 ACTB (Beta-actin)


(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_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACTB gene promoter:
         SRF   STAT1   Sp1   p53   AP-1   SRF (504 AA)   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ACTB promoter sequence
   Search SABiosciences Chromatin IP Primers for ACTB

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


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

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M005566:  view genomic region     (about GC identifiers)

Start:
5,566,779 bp from pter      End:
5,603,415 bp from pter
Size:
36,637 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 5,613,124-5,616,577     

(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: ACTB_HUMAN, P60709 (See protein sequence)
Recommended Name: Actin, cytoplasmic 1  
Size: 375 amino acids; 41737 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. Identified in a mRNP granule complex, at least composed of ACTB,
ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3,
NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated
mRNAs. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2,
SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or
more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found
in a complex with XPO6, Ran, ACTB and PFN1. Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA,
PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM
Subcellular location: Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslated
mRNAs
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
3 PDB 3D structures from and Proteopedia for ACTB:
3BYH (3D)        3D2U (3D)        3LUE (3D)    
Secondary accessions: P02570 P70514 P99021 Q11211 Q64316 Q75MN2 Q96B34 Q96HG5

Explore the universe of human proteins at neXtProt for ACTB: NX_P60709

Post-translational modifications:

  • ISGylated1
  • Oxidation of Met-44 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_P60709

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

    REFSEQ proteins: NP_001092.1  
    ENSEMBL proteins: 
     ENSP00000349960   ENSP00000409264   ENSP00000407473   ENSP00000393951   ENSP00000399487  
     ENSP00000401032  
    Reactome Protein details: P60709
    Human Recombinant Protein Products: 
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    Novus Biologicals ACTB Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm TAS16130169
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169
    GO:0014069postsynaptic density IEA--


    ACTB for ontologies           About GeneDecksing



    ACTB Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn


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

    ACTB 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 P60709

    ProtoNet protein and cluster: P60709

    UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
    Similarity: Belongs to the actin family


    (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: ACTB_HUMAN, P60709
    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 ACTB:
    actin,beta,cytoplasmic,major constituent of microfilaments

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTB
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTB:
    hsa-miR-3673 hsa-miR-4325 hsa-miR-4328 hsa-let-7g* hsa-miR-145 hsa-let-7a-2* hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidACTB 3' UTR sequence
    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTB

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS6202424
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0019894kinesin binding IPI18680169
    GO:0019901protein kinase binding IEA--


    ACTB for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ACTB:
     Decreased focal adhesion (FA)   Decreased homologous recombina  Weaker migration 

    Animal Models:
         Mouse knock-out Actbtm1Bhr for ACTB
         15/17 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Actb) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  embryogenesis  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  liver/biliary system  mortality/aging 
     muscle  nervous system  no phenotypic analysis  normal  reproductive system 

    ACTB for phenotypes           About GeneDecksing


    (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 - 5/81 super-pathways (see all 81About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    8/10 pathways (see all 10)
    Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    Cytoskeleton remodeling Integrin outside-in signaling0.37
    Cell adhesion Integrin-mediated cell adhesion and migration1.00
    Cytoskeleton remodeling Fibronectin-binding integrins in cell motility0.32
    Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases0.49
    Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility0.32
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Cell adhesion_Endothelial cell contacts by non-junctional mechanisms0.21
    2G-protein signaling_RAC1 in cellular process
    G-protein signaling_RAC1 in cellular process1.00
    Cytoskeleton remodeling_CDC42 in cellular processes0.37
    G-protein signaling RAC1 in cellular process1.00
    Cytoskeleton remodeling CDC42 in cellular processes0.37
    3Cell-cell junction organization
    Cell-cell junction organization1.00
    Adherens junctions interactions0.51
    Cell junction organization0.69
    Cell-Cell communication0.45
    4Regulation of actin dynamics for phagocytic cup formation
    Regulation of actin dynamics for phagocytic cup formation1.00
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    Role of myosins in phagosome formation0.80
    Branching and elongation of mother and daughter filaments0.29
    5Axon guidance
    Axon guidance1.00
    L1CAM interactions0.39
    Developmental Biology0.69
    Recycling pathway of L10.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/28 EMD Millipore Pathways for ACTB (see all 28)
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells
    Cytoplasmic microtubules
    Immune response CCR3 signaling in eosinophils

    5/43 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTB (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 ACTB
        Cytoskeletal Signaling

    5/30 GeneGo (Thomson Reuters) Pathways for ACTB (see all 30)
        Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Keratin filaments
    Development Slit-Robo signaling

    5 BioSystems Pathways for ACTB 
        Focal Adhesion
    Myometrial Relaxation and Contraction Pathways
    Regulation of Actin Cytoskeleton
    Arrhythmogenic right ventricular cardiomyopathy
    Pathogenic Escherichia coli infection

    5/32        Reactome Pathways for ACTB (see all 32)
        L1CAM interactions
    Membrane Trafficking
    Formation of annular gap junctions
    Protein folding
    Gap junction trafficking and regulation


    5/16         Kegg Pathways  (Kegg details for ACTB) (see all 16):
        Phagosome
    Focal adhesion
    Adherens junction
    Tight junction
    Leukocyte transendothelial migration


    ACTB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACTB

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

    5/1433 Interacting proteins for ACTB (P607091, 2, 3 ENSP000003499604) via UniProtKB, MINT, STRING, and/or I2D (see all 1433)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4BP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4CP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4DP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4EP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS--
    GO:0006928cellular component movement TAS16130169
    GO:0007409axonogenesis ----
    GO:0007411axon guidance TAS--
    GO:0007596blood coagulation TAS--


    ACTB for ontologies           About GeneDecksing



    (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

    ACTB for compounds           About GeneDecksing

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

    Compounds for ACTB 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]
    1 Novoseek chemical compound relationship for ACTB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actb 86.6 6 15111311 (4), 10344733 (1), 15555571 (1)

    Search CenterWatch for drugs/clinical trials and news about ACTB 

    (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 ACTB gene: 
    NM_001101.3  

    Unigene Cluster for ACTB:

    Actin, beta
    Hs.520640  [show with all ESTs]
    Unigene Representative Sequence: BM802936
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464611 ENST00000331789(uc003sot.4) ENST00000425660(uc003soq.4)
    ENST00000462494(uc003sor.4) ENST00000493945 ENST00000484841 ENST00000473257
    ENST00000477812 ENST00000432588 ENST00000480301 ENST00000443528 ENST00000417101
    ENST00000414620

    miRNA
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    hsa-miR-3673 hsa-miR-4325 hsa-miR-4328 hsa-let-7g* hsa-miR-145 hsa-let-7a-2* hsa-miR-192*
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTB

    Additional cDNA sequence: 

    AK025375.1 AK058019.1 AK098751.1 AK130062.1 AK130157.1 AK222925.1 AK223032.1 AK223055.1 
    AK225414.1 AK301372.1 AK304552.1 AK308277.1 AK309997.1 AK316361.1 BC001301.1 BC002409.2 
    BC004251.1 BC008633.1 BC009636.1 BC012854.1 BC013380.2 BC013835.1 BC014401.1 BC014861.1 
    BC016045.1 BC023204.1 BC113036.1 DQ407611.1 DQ471327.1 EF036500.1 EF095209.1 HM358929.1 
    HM358941.1 M28424.1 V00478.1 X00351.1 X63432.1 

    24/503 DOTS entries (see all 503):

    DT.92033793  DT.100750826  DT.98084087  DT.95351154  DT.100750758  DT.98083477  DT.100640118  DT.98083827 
    DT.97869763  DT.100648253  DT.100750378  DT.92033435  DT.100644965  DT.91922077  DT.100750915  DT.87018310 
    DT.100770618  DT.91704736  DT.100750938  DT.95277326  DT.100750321  DT.91852655  DT.95277435  DT.95277537 

    24/2230 AceView cDNA sequences (see all 2230):

    AA310360 BM993666 BX410833 BU553276 CR595291 BM788006 CB131070 BQ063316 
    BM477040 BP340827 BQ677905 BC014401 BP373260 BG747299 BX432597 BM846467 
    BP355017 BM750427 BQ030174 BF725700 BM992735 BM837278 BX391400 BE042608 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ACTB (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c ^ 7
    SP1:              -     -                                   -     -                                                         
    SP2:              -     -                 -     -           -     -                                                         
    SP3:              -     -     -     -                       -     -                                                         
    SP4:              -                                         -     -                                                         
    SP5:              -     -                                   -     -     -                                                   


    ECgene alternative splicing isoforms for ACTB

    (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

    ACTB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTTTATTTG

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

    About this image

    ACTB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Early Embryo (Zygote)Morula8-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)MorulaMorula CellsEarly Embryo
    Early Embryo (Zygote)Zygote2-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)Zygote4-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)ZygoteZygoteEarly Embryo
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Endoderm-like cells (Generation of hepato...)

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

    SOURCE GeneReport for Unigene cluster: Hs.520640
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACTB (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTB gene from 6/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ACTB1 actin, beta 88.27(n)
    100(a)
      396526  NM_205518.1  NP_990849.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACTB6
    --
    --
    95(a)
    85(a)
    1 ↔ 1
    possible ortholog
    GL344051.1(77778-83159)
    GL343721.1(263114-263356)
    zebrafish
    (Danio rerio)
    Actinopterygii bactin22 bactin2 88.94(n)   57935  BC045879.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Act5C3
    Act88F1
    cytoskeleton organization and biogenesis
    structural more3
    Actin 88F1
    98(a)
    (best of 7)3
    85.74(n)1
    95.99(a)1
      5C73
    418851  NM_079643.11  NP_524367.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT31 actin 3 74.8(n)
    89.54(a)
      824542  NM_115235.3  NP_566988.1 
    rice
    (Oryza sativa)
    Liliopsida Os.34202 Oryza sativa RAc1 mRNA for actin 80.96(n)    AB047313.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTB gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTC12  ACTL92  ACTRT12  ACTG12  
    ACTL7A2  ACTBL22  ACTL7B2  ACTR1B2  ACTA12  ACTRT32  
    18/31 SIMAP similar genes for ACTB using alignment to 9 protein entries:     ACTB_HUMAN (see all proteins) (see all similar genes):
    PS1TP5BP1    ACTG1    ACTA2    POTEF    ACTBL2    ACTC1
    ACT    POTEI    POTEJ    POTEKP    POTEE    ACTG2
    ACTA1    ACTR1A    ACTR1B    ACTRT3    ACTRT1    ACTR2

    ACTB for paralogs           About GeneDecksing


    5/10 Pseudogenes.org Pseudogenes for ACTB (see all 10)
    PGOHUM00000242113 PGOHUM00000235085 PGOHUM00000234490 PGOHUM00000237624 PGOHUM00000238279


    (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

    10/217 NCBI SNPs in ACTB are shown (see all 217    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1153651411,2
    C,--5566283(+) CTGGGA/C/GCAGGC 1 -- ds50010--------
    rs1899375151,2
    --5566327(+) GTGAAA/GGCAAA 1 -- ds50010--------
    rs1488982151,2
    --5566369(+) CCACTC/TAAGGG 1 -- ds50010--------
    rs1406438041,2
    C,--5566487(+) TCCCA-/CCTCCTCA 1 -- ds50010--------
    rs1811040561,2
    --5566502(+) CATCTA/GCACTC 1 -- ds50010--------
    rs1436228511,2
    --5566576(+) CAATAA/GGCAGG 1 -- ds50010--------
    rs1479801961,2
    --5566629(+) GCTCAA/GTGTCA 1 -- ds50010--------
    rs1407099231,2
    --5566674(+) GTAAGA/GACAAG 1 -- ds50010--------
    rs1458269271,2
    --5566687(+) GGCCCA/CCACTG 1 -- ds50010--------
    rs1387389981,2
    --5567020(+) TATCAC/TCTCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ACTB (5566779 - 5603415 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ACTB
         4 CNVs: 4524 64744 52250 52249
    Human Gene Mutation Database (HGMD): ACTB

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTB
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTB

    (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

    ACTB for disorders           About GeneDecksing

    OMIM gene information: 102630   
    OMIM disorders: 607371  
    UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
  • Defects in ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:607371]. DYTJ is a form of dystonia with
  • juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to
    abnormal postures. DYTJ patients manifest progressive, generalized, dopa-unresponsive dystonia, developmental
    malformations and sensory hearing loss
  • Defects in ACTB are the cause of Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310]. A rare developmental
  • disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular
    colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include
    postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss

    20/35 diseases for ACTB (see all 35):    About MalaCards
    wiskott-aldrich syndrome    non-small cell lung carcinoma    phaeohyphomycosis    bipolar disorder
    shigellosis    autoimmune hepatitis    lung carcinoma    colon adenocarcinoma
    cholera    hepatocellular carcinoma    gingivitis    colon cancer
    pharyngitis    influenza    adenocarcinoma    carcinoma
    prostate cancer    breast cancer    glioblastoma    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for ACTB:
    Cancer     Vascular disease

    1 Novoseek disease relationship for ACTB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 10344733 (1), 15111311 (1), 15555571 (1)

    Genatlas disease: ACTB
    recurrent infection,photosensitivity and mild mental retardation associated to abnormalities in neutrophil
    chemotaxis,superoxide production and membrane potential response

    Human Genome Epidemiology (HuGE) Navigator: ACTB (1 document)

    Export disorders for ACTB 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 ACTB gene, integrated from 9 sources (see all 335):
    (articles sorted by number of sources associating them with ACTB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. (PubMed id 22366783)1, 2 Riviere J.B....Dobyns W.B. (2012)
    2. GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis. (PubMed id 19377461)1, 2 Fujiki R.... Kato S. (2009)
    3. Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)1, 2 Joeson L.... Nielsen F.C. (2007)
    4. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. (PubMed id 16685646)1, 2 Procaccio V.... Wainer B.H. (2006)
    5. Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537)1, 2 Holaska J.M.... Wilson K.L. (2004)
    6. 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)
    7. 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)
    8. Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes. (PubMed id 14592989)1, 2 Stueven T.... Goerlich D. (2003)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    10. Direct proof that the primary site of action of cytochalasin on cell motility processes is actin. (PubMed id 1734024)1, 2 Ohmori H.... Toyama S. (1992)

    (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: 60 HGNC: 132 AceView: ACTB Ensembl:ENSG00000075624 euGenes: HUgn60
    ECgene: ACTB Kegg: 60 H-InvDB: ACTB

    (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 ACTB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACTB Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/actb/

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

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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