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

PRKAG1 Gene

protein-coding   GIFtS: 66
GCID: GC12M049396

Protein Kinase, AMP-Activated, Gamma 1 Non-Catalytic Subunit

Microbiology & Infectious Diseases Congress
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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 1 Non-Catalytic Subunit1 2     AMPKG2
AMPK Gamma12 3     AMPK Gamma-1 Chain2
5'-AMP-Activated Protein Kinase Subunit Gamma-12     AMPKg3
5'-AMP-Activated Protein Kinase, Gamma-1 Subunit2     AMPK Subunit Gamma-13

External Ids:    HGNC: 93851   Entrez Gene: 55712   Ensembl: ENSG000001819297   OMIM: 6027425   UniProtKB: P546193   

Export aliases for PRKAG1 gene to outside databases

Previous GC identifers: GC12P049402 GC12M049112 GC12M047682 GC12M046427


(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 PRKAG1 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. Alternatively spliced transcript
variants encoding distinct isoforms have been observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRKAG1 Gene: 
PRKAG1 (protein kinase, AMP-activated, gamma 1 non-catalytic subunit) is a protein-coding gene. Diseases associated with PRKAG1 include ascariasis, and trichuriasis, 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 ADP binding and protein kinase binding. An important paralog of this gene is PRKAG2.

UniProtKB/Swiss-Prot: AAKG1_HUMAN, P54619
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 PRKAG1 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRKAG1 gene promoter:
         E2F-3a   E2F-4   E2F-5   HTF   E2F-2   CREB   HEN1   IRF-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRKAG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRKAG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRKAG1


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

Entrez Gene cytogenetic band: 12q12-q14   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q12-q14

PRKAG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRKAG1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049396:  view genomic region     (about GC identifiers)

Start:
49,396,055 bp from pter      End:
49,412,980 bp from pter
Size:
16,926 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: AAKG1_HUMAN, P54619 (See protein sequence)
Recommended Name: 5'-AMP-activated protein kinase subunit gamma-1  
Size: 331 amino acids; 37579 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
4 PDB 3D structures from and Proteopedia for PRKAG1:
2UV4 (3D)        2UV5 (3D)        2UV6 (3D)        2UV7 (3D)    
Secondary accessions: B4DDT7 Q8N7V9
Alternative splicing: 3 isoforms:  P54619-1   P54619-2   P54619-3   (No experimental confirmation available. May be due to competing acceptor splice site)

Explore the universe of human proteins at neXtProt for PRKAG1: NX_P54619

Explore proteomics data for PRKAG1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by ULK1 and ULK2; leading to negatively regulate AMPK activity and suggesting the existence of a
    regulatory feedback loop between ULK1, ULK2 and AMPK
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54619

  • PRKAG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRKAG1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001193638.1  NP_001193639.1  NP_002724.1  

    ENSEMBL proteins: 
     ENSP00000446987   ENSP00000448873   ENSP00000323867   ENSP00000447433   ENSP00000447637  
     ENSP00000448972   ENSP00000449121   ENSP00000447671   ENSP00000450112   ENSP00000449637  
     ENSP00000448251   ENSP00000448739   ENSP00000449104   ENSP00000448290   ENSP00000450273  
     ENSP00000378599  
    Reactome Protein details: P54619
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0031588AMP-activated protein kinase complex ISS--
    GO:0043234protein complex ----

    PRKAG1 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 1 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 P54619

    ProtoNet protein and cluster: P54619

    1 Blocks protein domain: IPB000644 CBS domain

    UniProtKB/Swiss-Prot: AAKG1_HUMAN, P54619
    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


    PRKAG1 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: AAKG1_HUMAN, P54619
    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

         Genatlas biochemistry entry for PRKAG1:
    protein kinase,cAMP activated ,gamma 1 non catalytic subunit,complexing with alpha 2 and beta 2 subunits,involved
    in fatty acid and cholesterol metabolism

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA17028174
    GO:0004679contributes to AMP-activated protein kinase activity ISS--
    GO:0004691cAMP-dependent protein kinase activity TAS9598317
    GO:0005515protein binding IPI17028174
    GO:0005524ATP binding ISS--
         
    PRKAG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PRKAG1:
     Increased mitotic index 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Prkag1):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 

    PRKAG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prkag1tm1.2Mfor for PRKAG1

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    SwitchGear 3'UTR luciferase reporter plasmidPRKAG1 3' UTR sequence
    Inhib. RNA
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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 PRKAG1 About   (see all 20)                                                                                              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
    4PKA activation in glucagon signalling
    Regulation of CFTR gating (normal and CF)0.80
    5Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PRKAG1
        Development Leptin signaling via PI3K-dependent pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRKAG1
        AMPK Enzyme Complex Pathway
    eNOS Signaling
    Molecular Mechanisms of Cancer

    1 Cell Signaling Technology (CST) Pathway for PRKAG1
        Glucose / Energy Metabolism

    1 Tocris Bioscience Pathway for PRKAG1
        mTOR Pathway

    3 GeneGo (Thomson Reuters) Pathways for PRKAG1
        Regulation of CFTR gating (normal and CF)
    Regulation of CFTR activity (norm and CF)
    Development Leptin signaling via PI3K-dependent pathway

    3 BioSystems Pathways for PRKAG1
        TOR signaling
    AMPK signaling
    Energy Metabolism


    5/16        Reactome Pathways for PRKAG1 (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 PRKAG1
        Metformin Pathway, Pharmacodynamic

    5         Kegg Pathways  (Kegg details for PRKAG1):
        Circadian rhythm
    Insulin signaling pathway
    Adipocytokine signaling pathway
    Non-alcoholic fatty liver disease (NAFLD)
    Hypertrophic cardiomyopathy (HCM)


    PRKAG1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRKAG1

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

    5/925 Interacting proteins for PRKAG1 (P546191, 2, 3 ENSP000003238674) via UniProtKB, MINT, STRING, and/or I2D (see all 925)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006110regulation of glycolysis TAS8663446
    GO:0006468protein phosphorylation IDA17028174
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0007050cell cycle arrest TAS--
    GO:0007165signal transduction TAS2342480

    PRKAG1 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
    EMD Millipore small molecules for PRKAG1:
    Small Molecule - inhibitor
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    Search CenterWatch for drugs/clinical trials and news about PRKAG1 / AAKG1

    (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 PRKAG1 gene (4 alternative transcripts): 
    NM_001206709.1  NM_001206710.1  NM_002733.4  NM_212461.1  

    Unigene Cluster for PRKAG1:

    Protein kinase, AMP-activated, gamma 1 non-catalytic subunit
    Hs.530862  [show with all ESTs]
    Unigene Representative Sequence: NM_001206710
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000548362 ENST00000547306 ENST00000316299 ENST00000548065(uc001rsz.3 uc001rsy.3)
    ENST00000546531 ENST00000552212 ENST00000551770 ENST00000551696 ENST00000550125
    ENST00000552793 ENST00000548950 ENST00000549726 ENST00000551121 ENST00000550448(uc010sme.2)
    ENST00000552463 ENST00000548857 ENST00000548605 ENST00000547082
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    Additional mRNA sequence: 

    AK097606.1 AK293332.1 AK307994.1 BC000358.2 BT007345.1 

    15 DOTS entries:

    DT.100841368  DT.446289  DT.100709688  DT.100841373  DT.100841374  DT.121192235  DT.97792687  DT.95226733 
    DT.95208818  DT.95226719  DT.95226731  DT.95226737  DT.97860247  DT.91891359  DT.95226730 

    15 AceView cDNA sequences:

    NM_002733 AK097606 CR590162 NM_212461 CR613967 BC000358 CR608916 CR596899 
    CR616664 CR604823 CR611774 CR612109 CR620523 BT007345 U42412 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PRKAG1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^
    SP1:                                -     -     -     -           -     -                       -                                         -                     
    SP2:                                -     -     -     -           -     -                       -                 -                       -                     
    SP3:                                -     -     -     -           -                             -                 -                       -                     
    SP4:                                      -     -     -           -     -                                         -                       -                     
    SP5:                                                                                                              -                       -     -               

    ExUns: 14 ^ 15 ^ 16a · 16b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:  -                     


    ECgene alternative splicing isoforms for PRKAG1

    (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

    PRKAG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCACCAGG
    PRKAG1 Expression
    About this image


    See PRKAG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRKAG1

    SOURCE GeneReport for Unigene cluster: Hs.530862
        SABiosciences Expression via Pathway-Focused PCR Arrays including PRKAG1: 
              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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    (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 PRKAG1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prkag11 , 5 protein kinase, AMP-activated, gamma 1 non-catalytic more1, 5 87.67(n)1
    97.55(a)1
      15 (54.73 cM)5
    190821  NM_016781.21  NP_058061.21 
     988127985 
    chicken
    (Gallus gallus)
    Aves PRKAG11 protein kinase, AMP-activated, gamma 1 non-catalytic more 77.94(n)
    90.55(a)
      429688  NM_001034827.1  NP_001029999.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRKAG16
    protein kinase, AMP-activated, gamma 1 non-catalyt...
    86(a)
    1 ↔ 1
    2(93955524-93976480)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.71232 Xenopus laevis transcribed sequence with moderate similarity more 76.46(n)    BX845992.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa94d092 Danio rerio cDNA clone MGC63896 IMAGE6789945, complete more 75.6(n)    BC059181.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SNF4A&ggr;3 protein amino acid phosphorylation
    protein serine/threonine more
    63(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y111B2A.83
    aakg-11
    Protein AAKG-11 55(a)
    (best of 3)3
    56.74(n)1
    55.02(a)1
      III(12610648-12616456)3
    1766771  NM_067236.31  NP_499637.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF46
    Activating gamma subunit of the AMP-activated Snf1...
    33(a)
    1 → many
    VII(292033-293001)


    ENSEMBL Gene Tree for PRKAG1 (if available)
    TreeFam Gene Tree for PRKAG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRKAG1 gene
    PRKAG22  PRKAG32  
    3 SIMAP similar genes for PRKAG1 using alignment to 14 protein entries:     AAKG1_HUMAN (see all proteins):
    PRKAG2    DKFZp781C1522    PRKAG3

    PRKAG1 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

    10/434 SNPs in PRKAG1 are shown (see all 434)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428673511,2
    --49395671(+) GGCGCA/GCGCCT 3 -- ds50010--------
    rs1852973341,2
    --49395743(+) TGCAGC/TGAGCT 3 -- ds50010--------
    rs1898884981,2
    --49395757(+) ATTGCA/GCCATT 3 -- ds50010--------
    rs111688171,2
    H--49395795(+) attccA/Ttctca 3 -- ds50014Minor allele frequency- T:0.00NS EA 416
    rs125802201,2
    C,F,H--49395815(+) aaaaaA/Caaaaa 3 -- ds50013Minor allele frequency- C:0.22NS NA 286
    rs1460760411,2
    C--49395936(+) CTACT-/CGTGT 
     GTGTGTA
    CGTGT
    3 -- ds50010--------
    rs1824586971,2
    --49395945(+) TGTGTG/TTACGT 3 -- ds50010--------
    rs1856988671,2
    --49395947(+) TGTGTA/GCGTGT 3 -- ds50010--------
    rs178486041,2
    C--49395968(-) ATAACG/ATGTGT 3 -- ds50012Minor allele frequency- A:0.00NA 4
    rs1892467861,2
    --49395969(+) CACACA/GTTATT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for PRKAG1 (49396055 - 49412980 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PRKAG1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2662608CNV Deletion23128226
    nsv832404CNV Gain17160897

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    (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: 602742    OMIM disorders: --

    13 diseases for PRKAG1:    About MalaCards
    ascariasis    trichuriasis    neurologic diseases    epididymitis
    hypertrophic cardiomyopathy    intrahepatic cholangiocarcinoma    cholangiocarcinoma    myopathy
    atherosclerosis    hypoxia    schizophrenia    endotheliitis
    breast cancer


    PRKAG1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PRKAG1
    Human Genome Epidemiology (HuGE) Navigator: PRKAG1 (10 documents)

    Export disorders for PRKAG1 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 PRKAG1 gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with PRKAG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase. (PubMed id 8621499)1, 2, 3 Gao G....Witters L.A. (1996)
    2. 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)
    3. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (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. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    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. Identification and characterization of a novel folliculin-interacting protein FNIP2. (PubMed id 18403135)1, 2 Hasumi H.... Schmidt L.S. (2008)
    9. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. (PubMed id 17028174)1, 2 Baba M....Zbar B. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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: 5571 HGNC: 9385 AceView: PRKAG1 Ensembl:ENSG00000181929 euGenes: HUgn5571
    ECgene: PRKAG1 Kegg: 5571 H-InvDB: PRKAG1

    (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 PRKAG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRKAG1 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 PRKAG1 gene:
    Search GeneIP for patents involving PRKAG1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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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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