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

ACTG1 Gene

protein-coding   GIFtS: 70
GCID: GC17M079476

Actin, Gamma 1

(Previous names: deafness, autosomal dominant 20; deafness, autosomal dominant...)
(Previous symbols: ACTG, DFNA20, DFNA26)
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
Actin, Gamma 11 2     BRWS22
ACTG1 2 3     Actin, Cytoplasmic 22
DFNA201 2 5     Cytoskeletal Gamma-Actin2
DFNA261 2 5     ACTB3
Deafness, Autosomal Dominant 20; Deafness, Autosomal Dominant 261     Gamma-actin3
ACT2     

External Ids:    HGNC: 1441   Entrez Gene: 712   Ensembl: ENSG000001840097   OMIM: 1025605   UniProtKB: P632613   

Export aliases for ACTG1 gene to outside databases

Previous GC identifers: GC17U990001 GC17P080051 GC17M080178 GC17M080179 GC17M077091 GC17M074925


(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 ACTG1 Gene:
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the
cytoskeleton. In vertebrates, three 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 co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell
motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in
this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive
hearing loss. Alternative splicing results in multiple transcript variants.(provided by RefSeq, Jan 2011)

GeneCards Summary for ACTG1 Gene: 
ACTG1 (actin, gamma 1) is a protein-coding gene. Diseases associated with ACTG1 include baraitser-winter syndrome, and deafness, autosomal dominant 20/26, and among its related super-pathways are Development Slit-Robo signaling and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include structural constituent of cytoskeleton and identical protein binding. An important paralog of this gene is ACTG2.

UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261
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 ACTG1 Gene:
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 ACTG1 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_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACTG1 gene promoter:
         p53   AP-4   Meis-1b   E2F-1   E2F   c-Myb   Meis-1a   Pax-4a   TGIF   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACTG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTG1


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

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25

ACTG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTG1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079476:  view genomic region     (about GC identifiers)

Start:
79,476,997 bp from pter      End:
79,490,873 bp from pter
Size:
13,877 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: ACTG_HUMAN, P63261 (See protein sequence)
Recommended Name: Actin, cytoplasmic 2  
Size: 375 amino acids; 41793 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
Subcellular location: Cytoplasm, cytoskeleton
Miscellaneous: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The
alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and
gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell
motility
Secondary accessions: A8K7C2 P02571 P14104 P99022 Q5U032 Q96E67

Explore the universe of human proteins at neXtProt for ACTG1: NX_P63261

Explore proteomics data for ACTG1 at MOPED 

Post-translational modifications:

  • UniProtKB: The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity
    to the mouse ortholog
  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P63261

  • ACTG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACTG1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186883.1  NP_001605.1  

    ENSEMBL proteins: 
     ENSP00000331514   ENSP00000458435   ENSP00000458162   ENSP00000459124   ENSP00000461672  
     ENSP00000462823   ENSP00000461407   ENSP00000460464   ENSP00000459119   ENSP00000460660  
     ENSP00000466346  
    Reactome Protein details: P63261
    Human Recombinant Protein Products for ACTG1: 
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    Novus Biologicals ACTG1 Protein
    Novus Biologicals ACTG1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ACTG1
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169
    GO:0015629actin cytoskeleton ----
    GO:0030016myofibril IEA--

    ACTG1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR004001 Actin_CS
     IPR004000 Actin-related
     IPR020902 Actin/actin-like_CS

    Graphical View of Domain Structure for InterPro Entry P63261

    ProtoNet protein and cluster: P63261

    UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261
    Similarity: Belongs to the actin family


    ACTG1 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: ACTG_HUMAN, P63261
    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 ACTG1:
    actin,gamma,cytoplasmic 1 major constituent of microfilaments

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton IC16130169
    GO:0005515protein binding IPI16189514
    GO:0005524ATP binding IEA--
    GO:0042802identical protein binding IPI16189514
         
    ACTG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACTG1:
     Increased focal adhesion (FA)  

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Actg1):
     behavior/neurological  digestive/alimentary  growth/size  hearing/vestibular/ear  mortality/aging 
     muscle  nervous system 

    ACTG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Actg1tm1.1Erv for ACTG1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACTG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACTG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTG1 

    miRNA
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    miRTarBase miRNAs that target ACTG1:
    hsa-let-7b (MIRT001852)

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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTG1 (see all 16):
    hsa-miR-485-5p hsa-miR-3194-5p hsa-miR-300 hsa-miR-10b hsa-miR-624 hsa-miR-512-3p hsa-miR-103a hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidACTG1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTG1


    (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 ACTG1 About   (see all 75)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.53
    3Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    Transport Clathrin-coated vesicle cycle0.66
    4Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    5Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/24 EMD Millipore Pathways for ACTG1 (see all 24)
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells
    Immune response CCR3 signaling in eosinophils
    Cytoskeleton remodeling Keratin filaments

    5/43 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTG1 (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 ACTG1
        Cytoskeletal Signaling

    5/27 GeneGo (Thomson Reuters) Pathways for ACTG1 (see all 27)
        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

    5/6 BioSystems Pathways for ACTG1 (see all 6)
        Focal Adhesion
    Myometrial Relaxation and Contraction Pathways
    Regulation of Actin Cytoskeleton
    Striated Muscle Contraction
    Pathogenic Escherichia coli infection

    5/20        Reactome Pathways for ACTG1 (see all 20)
        L1CAM interactions
    Developmental Biology
    Membrane Trafficking
    Formation of annular gap junctions
    Gap junction trafficking and regulation


    5/18         Kegg Pathways  (Kegg details for ACTG1) (see all 18):
        Phagosome
    Hippo signaling pathway
    Focal adhesion
    Adherens junction
    Tight junction


    ACTG1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACTG1

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

    5/623 Interacting proteins for ACTG1 (P632611, 2, 3 ENSP000003315144) via UniProtKB, MINT, STRING, and/or I2D (see all 623)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3MINT-7899812 I2D: score=2 
    HIST1H4BP628052, 3MINT-7899812 I2D: score=2 
    HIST1H4CP628052, 3MINT-7899812 I2D: score=2 
    HIST1H4DP628052, 3MINT-7899812 I2D: score=2 
    HIST1H4EP628052, 3MINT-7899812 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement TAS16130169
    GO:0007411axon guidance TAS--
    GO:0034329cell junction assembly TAS--
    GO:0034332adherens junction organization TAS--
    GO:0038096Fc-gamma receptor signaling pathway involved in phagocytosis TAS--

    ACTG1 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

    ACTG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for ACTG1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CK 666Arp2/3 inhibitor; inhibits actin polymerization[442633-00-3]
    Latrunculin AInhibitor of actin assembly and polymerization[76343-93-6]
    Cytochalasin DDisrupts actin filament function[22144-77-0]
    JasplakinolideStabilizes F-actin; promotes actin polymerization[102396-24-7]
    Thymosin beta4Potent actin polymerization regulator[77591-33-4]

    9 Novoseek inferred chemical compound relationships for ACTG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actb 95 45 18191039 (3), 16777070 (3), 15720708 (3), 19587781 (3) (see all 24)
    glyceraldehyde 3-phosphate 53.9 7 18191039 (1), 16777070 (1), 20113474 (1), 8367299 (1) (see all 7)
    jasplakinolide 50.4 1 15342343 (1)
    cytochalasin d 41 1 1577858 (1)
    hypoxanthine 38.6 4 18191039 (1), 16777070 (1), 18983665 (1), 17257226 (1)
    pip2 34.1 2 8547642 (1), 8780652 (1)
    calcium 0 2 20308063 (2)
    superoxide 0 1 8226538 (1)
    dexamethasone 0 8 18191039 (2), 16777070 (2), 7895671 (1)

    Search CenterWatch for drugs/clinical trials and news about ACTG1 / ACTG

    (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,
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    About This Section

    REFSEQ mRNAs for ACTG1 gene (2 alternative transcripts): 
    NM_001199954.1  NM_001614.3  

    Unigene Clusters for ACTG1:

    Actin, gamma 1
    Hs.514581  [show with all ESTs], Hs.713764  [show with all ESTs]
    Unigene Representative Sequences: BF569066, BE614905
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331925(uc002kag.3 uc002kal.2) ENST00000573283(uc002kak.2)
    ENST00000575842 ENST00000576917 ENST00000574671 ENST00000576209 ENST00000575087
    ENST00000576544 ENST00000572105 ENST00000576214 ENST00000571691 ENST00000575994
    ENST00000575659 ENST00000571721 ENST00000570382
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTG1

    Additional mRNA sequence: AK301175.1 

    24/319 DOTS entries (see all 319):

    DT.100750836  DT.101987720  DT.92033430  DT.100750752  DT.100750646  DT.100750945  DT.100750858  DT.87009547 
    DT.100750953  DT.101986577  DT.100750686  DT.75154030  DT.91941217  DT.100750381  DT.91960848  DT.100855754 
    DT.100750483  DT.100750698  DT.100750615  DT.98083489  DT.91733472  DT.95072607  DT.100750792  DT.454930 

    24/231 AceView cDNA sequences (see all 231):

    CR612527 CR595096 CR602599 CR593892 CR606124 CR596575 CR604384 BC004223 
    CR595246 CR612862 CR619007 CR618978 CR621873 CR605249 CR618764 CR619574 
    CR596102 CR591798 BC007442 CR609318 CR614104 CR606346 CR600669 CR611432 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ACTG1 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for ACTG1

    (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

    ACTG1 expression in normal human tissues (normalized intensities)      ACTG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAGCCTCAC
    ACTG1 Expression
    About this image


    ACTG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Tonsil (Hematopoietic System)

    See ACTG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTG1

    SOURCE GeneReport for Unigene clusters: Hs.514581 Hs.713764
        SABiosciences Custom PCR Arrays for ACTG1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTG1

    (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 ACTG1 gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actg11 , 5 actin, gamma, cytoplasmic 11, 5 89.87(n)1
    100(a)1
      11 (84.07 cM)5
    114651  NM_009609.21  NP_033739.11 
     1203456905 
    chicken
    (Gallus gallus)
    Aves LOC7768161 actin, cytoplasmic 2-like 90.22(n)
    100(a)
      776816  XM_001236315.2  XP_001236316.2 
    lizard
    (Anolis carolinensis)
    Reptilia ACTG16
    Uncharacterized protein
    100(a)
    1 ↔ 1
    2(98722875-98724624)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BC064155.12   -- 82.68(n)    BC064155.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:867251 zgc:86725 80.93(n)
    92.78(a)
      415164  NM_001002074.1  NP_001002074.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Act5C3
    Act87E1
    cytoskeleton organization and
    biogenesis structural more3
    Actin 87E1
    98(a)
    (best of 7)3
    85.2(n)1
    95.45(a)1
      5C73
    486321  NM_057743.41  NP_477091.11 
    worm
    (Caenorhabditis elegans)
    Secernentea act-23
    act-51
    actin3
    Protein ACT-51
    97(a)
    (best of 5)3
    79.47(n)1
    93.6(a)1
      V(11079402-11080517)3
    1767931  NM_067408.31  NP_499809.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACT11 Act1p 73.33(n)
    89.07(a)
      850504   NP_116614.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g04388001 hypothetical protein 72.28(n)
    87.43(a)
      4338914  NM_001062196.1  NP_001055661.1 


    ENSEMBL Gene Tree for ACTG1 (if available)
    TreeFam Gene Tree for ACTG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTG1 gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTRT12  ACTL7A2  
    ACTBL22  ACTL7B2  ACTR1B2  ACTA12  ACTRT32  
    18/33 SIMAP similar genes for ACTG1 using alignment to 9 protein entries:     ACTG_HUMAN (see all proteins) (see all similar genes):
    ACTB    PS1TP5BP1    POTEF    ACTC1    ACTA2    ACTBL2
    POTEE    POTEI    POTEM    POTEJ    POTEKP    ACTG2
    ACT    ACTA1    ACTR1A    ACTR1B    ACTRT3    ACTRT1

    ACTG1 for paralogs           About GeneDecksing


    5/30 Pseudogenes.org Pseudogenes for ACTG1 (see all 30)
    PGOHUM00000238830 PGOHUM00000246738 PGOHUM00000246771 PGOHUM00000246896 PGOHUM00000262297


    (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

    10/438 SNPs in ACTG1 are shown (see all 438)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0324364
    Deafness, autosomal dominant, 20 (DFNA20)4--see VAR_0324362 P L mis40--------
    VAR_0324384
    Deafness, autosomal dominant, 20 (DFNA20)4--see VAR_0324382 P A mis40--------
    VAR_0324354
    Deafness, autosomal dominant, 20 (DFNA20)4--see VAR_0324352 K M mis40--------
    VAR_0324394
    Deafness, autosomal dominant, 20 (DFNA20)4--see VAR_0324392 V A mis40--------
    rs289991121,2,4
    CDeafness, autosomal dominant, 20 (DFNA20)4 pathogenic180591126(-) GACCAC/TCTTCA 5 T I mis1 ese30--------
    rs2676066311,2,4
    CDeafness, autosomal dominant, 20 (DFNA20)4 pathogenic180591317(-) GCTACA/GAGCTG 5 K E mis10--------
    rs115491901,2,4
    CBaraitser-Winter syndrome 2 (BRWS2)4 pathogenic180591634(-) CGTGGC/TCATCC 5 A V mis1 ese30--------
    rs2676066301,2,4
    CDeafness, autosomal dominant, 20 (DFNA20)4 pathogenic180591960(-) GAGAAC/GATGAC 5 N K mis10--------
    rs289991111,2,4
    CDeafness, autosomal dominant, 20 (DFNA20)4 pathogenic180592048(-) CCACAC/TCTTCT 5 T I mis1 ese30--------
    rs1048945471,2
    Cpathogenic180590757(-) CATCGC/TCCACC 5 A V mis10--------

    HapMap Linkage Disequilibrium report for ACTG1 (79476997 - 79490873 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for ACTG1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833568CNV Loss17160897
    dgv3318n71CNV Loss21882294
    nsv457973CNV Loss19166990
    dgv3331n71CNV Loss21882294
    dgv3332n71CNV Loss21882294
    dgv3324n71CNV Loss21882294
    dgv3330n71CNV Loss21882294
    nsv909105CNV Loss21882294
    nsv909000CNV Loss21882294
    nsv828128CNV Loss20364138


    Human Gene Mutation Database (HGMD): ACTG1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTG1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTG1

    (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: 102560   
    OMIM disorders: 604717  
    UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261
  • Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/60 diseases for ACTG1 (see all 60):    About MalaCards
    baraitser-winter syndrome    deafness, autosomal dominant 20/26    baraitser-winter syndrome 2    dfna20/26 nonsyndromic hearing loss and deafness
    nonsyndromic hearing loss and deafness, autosomal dominant    pneumocystosis    usher syndrome type i    glomus tumor
    brain malformations    usher syndrome    hemangiopericytoma    childhood leukemia
    human immunodeficiency virus infectious disease    shigellosis    beta thalassemia    gigantism
    lissencephaly    thalassemia    endocarditis    wiskott-aldrich syndrome

    3 diseases from the University of Copenhagen DISEASES database for ACTG1:
    Cancer     Acquired immunodeficiency syndrome     Vascular disease

    ACTG1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for ACTG1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hearing loss sensorineural 22.5 1 18804074 (1)
    shock 9.5 6 20479917 (1), 10882332 (1), 15910747 (1), 15989238 (1) (see all 6)
    metastasis 0 1 16867268 (1)
    tumors 0 2 9731740 (1), 10882332 (1)
    carcinoma 0 2 18540438 (1), 16867268 (1)
    cancer 0 1 9538132 (1)

    Genetic Association Database (GAD): ACTG1
    Human Genome Epidemiology (HuGE) Navigator: ACTG1 (1 document)
    Tumor Gene Database (TGDB): ACTG1

    Export disorders for ACTG1 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 ACTG1 gene, integrated from 9 sources (see all 296):
    (articles sorted by number of sources associating them with ACTG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). (PubMed id 14684684)1, 2, 3, 9 van Wijk E.... Kremer H. (2003)
    2. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). (PubMed id 13680526)1, 2, 4, 9 Zhu M.... Friderici K.H. (2003)
    3. Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. (PubMed id 18804074)1, 2, 9 Liu P....Liu M. (2008)
    4. 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)
    5. In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. (PubMed id 19477959)1, 2 MorA-n M....Moreno-Pelayo M.A. (2009)
    6. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. (PubMed id 16773128)1, 2 Rendtorff N.D.... Tranebjaerg L. (2006)
    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. Structure, chromosome location, and expression of the human gamma- actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. (PubMed id 2837653)1, 2 Erba H.P.... Gunning P. (1988)
    10. Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and amino acid substitutions that may be cancer related. (PubMed id 3472224)1, 2 Chou C.C.... Salser W.A. (1987)

    (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: 71 HGNC: 144 AceView: ACTG1 Ensembl:ENSG00000184009 euGenes: HUgn71
    ECgene: ACTG1 Kegg: 71 H-InvDB: ACTG1

    (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 ACTG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACTG1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACTG1 gene:
    Search GeneIP for patents involving ACTG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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