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

PRKAG3 Gene

protein-coding   GIFtS: 63
GCID: GC02M219651

Protein Kinase, AMP-Activated, Gamma 3 Non-Catalytic Subunit

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(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
Protein Kinase, AMP-Activated, Gamma 3 Non-Catalytic Subunit1 2     5'-AMP-Activated Protein Kinase Subunit Gamma-32
AMPKG32 3     5'-AMP-Activated Protein Kinase, Gamma-3 Subunit2
AMPK Gamma32 3     AMPK Gamma-3 Chain2
AMPK Subunit Gamma-32 3     

External Ids:    HGNC: 93871   Entrez Gene: 536322   Ensembl: ENSG000001155927   OMIM: 6049765   UniProtKB: Q9UGI93   

Export aliases for PRKAG3 gene to outside databases

Previous GC identifers: GC02M217702 GC02M218408 GC02M219889 GC02M219512 GC02M219395 GC02M211540


(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 PRKAG3 Gene:
The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a
heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an
important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses,
AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy
beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid
and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in
skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation
of energy metabolism in skeletal muscle. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRKAG3 Gene: 
PRKAG3 (protein kinase, AMP-activated, gamma 3 non-catalytic subunit) is a protein-coding gene. Diseases associated with PRKAG3 include wolff-parkinson-white syndrome, and polycystic ovary syndrome, and among its related super-pathways are Energy dependent regulation of mTOR by LKB1-AMPK and Insulin receptor signalling cascade. GO annotations related to this gene include AMP-activated protein kinase activity and protein kinase binding. An important paralog of this gene is PRKAG1.

UniProtKB/Swiss-Prot: AAKG3_HUMAN, Q9UGI9
Function: AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that
plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels,
AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate
and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of
metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a
regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin.
Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK:
AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing
phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation,
without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic
subunit, rendering the AMPK enzyme inactive

Gene Wiki entry for PRKAG3 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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRKAG3 gene promoter:
         AML1a   Ik-2   Lmo2   MyoD   LCR-F1   Roaz   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRKAG3 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRKAG3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRKAG3


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

PRKAG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRKAG3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M219651:  view genomic region     (about GC identifiers)

Start:
219,687,106 bp from pter      End:
219,696,809 bp from pter
Size:
9,704 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: AAKG3_HUMAN, Q9UGI9 (See protein sequence)
Recommended Name: 5'-AMP-activated protein kinase subunit gamma-3  
Size: 489 amino acids; 54258 Da
Subunit: AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a
gamma non-catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2 (By similarity)
Secondary accessions: Q4QQG8 Q4V779 Q9NRL1
Alternative splicing: 2 isoforms:  Q9UGI9-1   Q9UGI9-2   

Explore the universe of human proteins at neXtProt for PRKAG3: NX_Q9UGI9

Explore proteomics data for PRKAG3 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory
    feedback loop between ULK1 and AMPK
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UGI9

  • PRKAG3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRKAG3 Protein Expression
    REFSEQ proteins: NP_059127.2  
    ENSEMBL proteins: 
     ENSP00000233944   ENSP00000436068   ENSP00000419272   ENSP00000416100   ENSP00000397133  
     ENSP00000444536   ENSP00000375947  
    Reactome Protein details: Q9UGI9
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0031588AMP-activated protein kinase complex IEA--

    PRKAG3 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
    IUPHAR Guide to PHARMACOLOGY protein family classification: protein kinase, AMP-activated, gamma 3 non-catalytic subunit 
    AMPK subfamily
    Selected non-AGC protein kinase activities

    1 InterPro protein domain:
     IPR000644 Cysta_beta_synth_core

    Graphical View of Domain Structure for InterPro Entry Q9UGI9

    ProtoNet protein and cluster: Q9UGI9

    1 Blocks protein domain: IPB000644 CBS domain

    UniProtKB/Swiss-Prot: AAKG3_HUMAN, Q9UGI9
    Domain: The AMPK pseudosubstrate motif resembles the sequence around sites phosphorylated on target proteins of
    AMPK, except the presence of a non-phosphorylatable residue in place of Ser. In the absence of AMP this
    pseudosubstrate sequence may bind to the active site groove on the alpha subunit (PRKAA1 or PRKAA2), preventing
    phosphorylation by the upstream activating kinase STK11/LKB1
    Domain: The CBS domains mediate binding to AMP, ADP and ATP. 2 sites bind either AMP or ATP, whereas a third site
    contains a tightly bound AMP that does not exchange. Under physiological conditions AMPK mainly exists in its
    inactive form in complex with ATP, which is much more abundant than AMP
    Similarity: Belongs to the 5'-AMP-activated protein kinase gamma subunit family
    Similarity: Contains 4 CBS domains


    PRKAG3 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: AAKG3_HUMAN, Q9UGI9
    Function: AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that
    plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels,
    AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate
    and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of
    metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a
    regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin.
    Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK:
    AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing
    phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation,
    without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic
    subunit, rendering the AMPK enzyme inactive

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004679AMP-activated protein kinase activity TAS10698692
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0019901protein kinase binding IDA10698692
    GO:0030554adenyl nucleotide binding ----
         
    PRKAG3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PRKAG3:
     Decreased focal adhesion (FA)  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Prkag3):
     homeostasis/metabolism 

    PRKAG3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prkag3tm1Sson for PRKAG3

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    SwitchGear 3'UTR luciferase reporter plasmidPRKAG3 3' UTR sequence
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    (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 PRKAG3 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Energy dependent regulation of mTOR by LKB1-AMPK
    Energy dependent regulation of mTOR by LKB1-AMPK0.82
    PKB-mediated events0.61
    Regulation of AMPK activity via LKB10.82
    Regulation of Rheb GTPase activity by AMPK0.59
    mTOR signalling0.63
    TOR signaling0.33
    2IRS-related events
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    IRS-related events triggered by IGF1R0.93
    PI3K Cascade0.86
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.79
    3Membrane Trafficking
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32
    4Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PRKAG3
        Development Leptin signaling via PI3K-dependent pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRKAG3
        AMPK Enzyme Complex Pathway
    eNOS Signaling
    Molecular Mechanisms of Cancer

    1 Cell Signaling Technology (CST) Pathway for PRKAG3
        Glucose / Energy Metabolism

    1 Tocris Bioscience Pathway for PRKAG3
        mTOR Pathway

    1 GeneGo (Thomson Reuters) Pathway for PRKAG3
        Development Leptin signaling via PI3K-dependent pathway

    3 BioSystems Pathways for PRKAG3
        TOR signaling
    AMPK signaling
    Energy Metabolism

    5/16        Reactome Pathways for PRKAG3 (see all 16)
        PI3K Cascade
    Membrane Trafficking
    Regulation of AMPK activity via LKB1
    Translocation of GLUT4 to the Plasma Membrane
    IGF1R signaling cascade

    1 PharmGKB Pathway for PRKAG3
        Metformin Pathway, Pharmacodynamic

    5         Kegg Pathways  (Kegg details for PRKAG3):
        Circadian rhythm
    Insulin signaling pathway
    Adipocytokine signaling pathway
    Non-alcoholic fatty liver disease (NAFLD)
    Hypertrophic cardiomyopathy (HCM)


    PRKAG3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRKAG3

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

    5/31 Interacting proteins for PRKAG3 (Q9UGI92, 3 ENSP000002339444) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAB2O437413, ENSP000002541014I2D: score=1 STRING: ENSP00000254101
    PRKAA1Q131313, ENSP000003461484I2D: score=1 STRING: ENSP00000346148
    PRKAB1Q9Y4783, ENSP000002293284I2D: score=1 STRING: ENSP00000229328
    ACACBENSP000003670794STRING: ENSP00000367079
    PRKAA2ENSP000003602904STRING: ENSP00000360290
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005978glycogen biosynthetic process IEA--
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0007050cell cycle arrest TAS--
    GO:0007243intracellular protein kinase cascade TAS10698692
    GO:0008286insulin receptor signaling pathway TAS--

    PRKAG3 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PRKAG3 (AAKG3)

    Search CenterWatch for drugs/clinical trials and news about PRKAG3 / AAKG3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRKAG3 gene: 
    NM_017431.2  

    Unigene Cluster for PRKAG3:

    Protein kinase, AMP-activated, gamma 3 non-catalytic subunit
    Hs.591634  [show with all ESTs]
    Unigene Representative Sequence: NM_017431
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233944 ENST00000529249 ENST00000470307 ENST00000490971(uc010fvy.1)
    ENST00000430489 ENST00000439262(uc002vjb.1) ENST00000545803 ENST00000392098(uc010zkn.1 uc010zko.1)


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    Additional mRNA sequence: 

    AJ249977.1 AK300078.1 AK300687.1 AK309865.1 BC098102.1 BC098255.1 BC098277.1 BC098306.1 

    1 DOTS entry:

    DT.408290 

    10 AceView cDNA sequences:

    NM_017431 CD628195 AF214519 AA176339 AJ249977 CD628193 AA256383 AA256854 
    W94830 AA178898 

    GeneLoc Exon Structure


    (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

    PRKAG3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTTAGATT
    PRKAG3 Expression
    About this image


    See PRKAG3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRKAG3

    SOURCE GeneReport for Unigene cluster: Hs.591634

    UniProtKB/Swiss-Prot: AAKG3_HUMAN, Q9UGI9
    Tissue specificity: Skeletal muscle, with weak expression in heart and pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including PRKAG3: 
              mTOR Signaling in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKAG3

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

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRKAG3 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prkag31 , 5 protein kinase, AMP-activated, gamma 3 non-catatlytic more1, 5 85.31(n)1
    85.04(a)1
      1 (38.54 cM)5
    2411131  NM_153744.31  NP_714966.11 
     747394995 
    chicken
    (Gallus gallus)
    Aves PRKAG31 protein kinase, AMP-activated, gamma 3 non-catalytic more 75.6(n)
    75.71(a)
      424208  NM_001031258.2  NP_001026429.2 
    lizard
    (Anolis carolinensis)
    Reptilia PRKAG36
    Uncharacterized protein
    71(a)
    1 ↔ 1
    1(95953569-95977982)
    African clawed frog
    (Xenopus laevis)
    Amphibia prkag3-prov2 protein kinase, AMP-activated, gamma 3 non-catatlytic more 73.86(n)    BC043738.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1368501 zgc:136850 64.74(n)
    67.95(a)
      678619  NM_001040366.1  NP_001035456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SNF4A&ggr;3 protein amino acid phosphorylation
    protein serine/threonine more
    53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y111B2A.83   -- 49(a)
    (best of 3)
      III(12610648-12616456)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF46
    Activating gamma subunit of the AMP-activated Snf1...
    30(a)
    1 → many
    VII(292033-293001)


    ENSEMBL Gene Tree for PRKAG3 (if available)
    TreeFam Gene Tree for PRKAG3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRKAG3 gene
    PRKAG12  PRKAG22  
    2 SIMAP similar genes for PRKAG3 using alignment to 5 protein entries:     AAKG3_HUMAN (see all proteins):
    PRKAG2    PRKAG1

    PRKAG3 for paralogs           About GeneDecksing



    (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

    UniProtKB/Swiss-Prot: AAKG3_HUMAN, Q9UGI9
    Polymorphism: PRKAG3 genetic variants can be associated with increased glycogen content in skeletal muscle
    [MIM:604976]. Muscle fibers from carriers of variant Trp-225 have approximately 90% more muscle glycogen content
    than controls and decreased levels of intramuscular triglyceride


    10/386 SNPs in PRKAG3 are shown (see all 386)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381301571,2,4
    Cpathogenic1219076955(+) TGCCCG/ACACAC 2 /R /W mis11Minor allele frequency- A:0.00NA 4526
    VAR_0694784
    ----see VAR_0694782 R Q mis40--------
    VAR_0694724
    ----see VAR_0694722 G V mis40--------
    VAR_0694714
    ----see VAR_0694712 D G mis40--------
    VAR_0694734
    ----see VAR_0694732 L P mis40--------
    VAR_0694814
    ----see VAR_0694812 I T mis40--------
    VAR_0694764
    ----see VAR_0694762 M T mis40--------
    VAR_0694834
    ----see VAR_0694832 R Q mis40--------
    VAR_0694754
    ----see VAR_0694752 G S mis40--------
    VAR_0694774
    ----see VAR_0694772 E Q mis40--------

    HapMap Linkage Disequilibrium report for PRKAG3 (219687106 - 219696809 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PRKAG3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv528407CNV Loss19592680


    Human Gene Mutation Database (HGMD): PRKAG3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PRKAG3
    DNA2.0 Custom Variant and Variant Library Synthesis for PRKAG3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604976    OMIM disorders: --

    6 diseases for PRKAG3:    About MalaCards
    wolff-parkinson-white syndrome    polycystic ovary syndrome    hypertrophic cardiomyopathy    atherosclerosis
    myopathy    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for PRKAG3:
    Wolff-Parkinson-White syndrome

    PRKAG3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): PRKAG3
    Human Genome Epidemiology (HuGE) Navigator: PRKAG3 (9 documents)

    Export disorders for PRKAG3 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 PRKAG3 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with PRKAG3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. (PubMed id 10818001)1, 2, 3 Milan D....Andersson L. (2000)
    2. Gain-of-function R225W mutation in human AMPKgamma3 causing increased glycogen and decreased triglyceride in skeletal muscle. (PubMed id 17878938)1, 2, 9 Costford S.R....Harper M.E. (2007)
    3. Common variants in 40 genes assessed for diabetes inc idence and response to metformin and lifestyle intervention in the diabetes pre vention program. (PubMed id 20682687)1, 4 Jablonski K.A....Florez J.C. (2010)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    5. Association study of AMP-activated protein kinase sub unit genes in polycystic ovary syndrome. (PubMed id 19574280)1, 4 Sproul K....Goodarzi M.O. (2009)
    6. Integrative predictive model of coronary artery calci fication in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (2009)
    7. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. (2009)
    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. (2004)
    9. Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. (PubMed id 10698692)1, 2 Cheung P.C.F.... Carling D. (2000)
    10. Role of AMP-activated protein kinase gamma 3 genetic variability in glucose and lipid metabolism in non-diabetic whites. (PubMed id 17701023)1, 9 Weyrich P....Haring H.U. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 53632 HGNC: 9387 AceView: PRKAG3 Ensembl:ENSG00000115592 euGenes: HUgn53632
    ECgene: PRKAG3 Kegg: 53632 H-InvDB: PRKAG3

    (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 PRKAG3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRKAG3 gene:
    Search GeneIP for patents involving PRKAG3

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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