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PHKG1 Gene

protein-coding   GIFtS: 61
GCID: GC07M056115

Phosphorylase Kinase, Gamma 1 (Muscle)


(Previous symbol: PHKG)
  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)
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Aliases
Phosphorylase Kinase, Gamma 1 (Muscle)1 2     Phosphorylase B Kinase Gamma Catalytic Chain, Skeletal Muscle Isoform2
PHKG1 2 3     Phosphorylase B Kinase Gamma Catalytic Chain, Skeletal Muscle/Heart
Isoform2
Phosphorylase Kinase Subunit Gamma-12 3     Phosphorylase Kinase Gamma2
Serine/Threonine-Protein Kinase PHKG12 3     EC 2.7.11.13
PHK-gamma-M2 3     EC 2.7.11.263
EC 2.7.11.193 8     EC 2.7.118

External Ids:    HGNC: 89301   Entrez Gene: 52602   Ensembl: ENSG000001647767   OMIM: 1724705   UniProtKB: Q168163   

Export aliases for PHKG1 gene to outside databases

Previous GC identifers: GC07M055612 GC07M055856 GC07M055889 GC07M055922 GC07M055962


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHKG1 Gene:
This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain
and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex
which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme.
This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for PHKG1 Gene:
PHKG1 (phosphorylase kinase, gamma 1 (muscle)) is a protein-coding gene. Diseases associated with PHKG1 include muscle glycogenosis, and phosphorylase kinase deficiency. GO annotations related to this gene include tau-protein kinase activity and enzyme binding. An important paralog of this gene is PHKG2.

UniProtKB/Swiss-Prot: PHKG1_HUMAN, Q16816
Function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation
of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In
vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity)

Gene Wiki entry for PHKG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PHKG1 gene promoter:
         GR   Pax-2   Pax-2a   PPAR-gamma1   POU2F1   Pax-2b   POU2F1a   SEF-1 (1)   PPAR-gamma2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHKG1 promoter sequence
   Search Chromatin IP Primers for PHKG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHKG1


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

Entrez Gene cytogenetic band: 7p11.2   Ensembl cytogenetic band:  7p11.2   HGNC cytogenetic band: 7p11.2

PHKG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHKG1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M056115:  view genomic region     (about GC identifiers)

Start:
56,148,440 bp from pter      End:
56,160,689 bp from pter
Size:
12,250 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 56,152,922-56,164,936     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PHKG1_HUMAN, Q16816 (See protein sequence)
Recommended Name: Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform  
Size: 387 amino acids; 45024 Da
Subunit: Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1
or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is
calmodulin
Secondary accessions: B7Z1D0 F5H2S1 Q75LP5
Alternative splicing: 2 isoforms:  Q16816-1   Q16816-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PHKG1: NX_Q16816

Explore proteomics data for PHKG1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PHKG1 (Q16816) (see all 20)
     RDPYALR  GYGKEVD  IKLTDFG  LSEKETR 


    See PHKG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001245388.1  NP_001245389.1  NP_006204.1  

    ENSEMBL proteins: 
     ENSP00000297373   ENSP00000389721   ENSP00000397193   ENSP00000378817   ENSP00000445440  
     ENSP00000441528  
    Reactome Protein details: Q16816

    PHKG1 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: phosphorylase kinase, gamma 1 (muscle)
    Phosphorylase Kinase (PHK) family

    Selected InterPro protein domains (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q16816

    ProtoNet protein and cluster: Q16816

    1 Blocks protein domain: IPB002291 Phosphorylase kinase family signature

    UniProtKB/Swiss-Prot: PHKG1_HUMAN, Q16816
    Domain: The two calmodulin-binding domains appear to act in concert to bind a single molecule of calmodulin and
    are pseudosubstrate/autoinhibitory domains (By similarity)
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


    PHKG1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHKG1_HUMAN, Q16816
    Function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation
    of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In
    vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity)
    Catalytic activity: 2 ATP + phosphorylase b = 2 ADP + phosphorylase a
    Catalytic activity: ATP + [tau protein] = ADP + [tau protein] phosphate
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Genatlas biochemistry entry for PHKG1:
    phosphorylase kinase,isoform gamma 1,muscle,glycogen catabolism

         Enzyme Numbers (IUBMB): EC 2.7.11.191 2 EC 2.7.112 EC 2.7.11.261 EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ----
    GO:0004689phosphorylase kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005516calmodulin binding IEA--
         
    PHKG1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PHKG1:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased cell death HMECs cel 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHKG1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PHKG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHKG1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHKG1

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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PHKG1

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    Sino Biological Human cDNA Clone for PHKG1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKG1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKG1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005964phosphorylase kinase complex IEA--
    GO:0016020membrane ----

    PHKG1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PHKG1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    3MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    4G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    5fMLP Pathway
    Alpha-Adrenergic Signaling0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PHKG1
        PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA
    Alpha-Adrenergic Signaling

    3 GeneGo (Thomson Reuters) Pathways for PHKG1
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling
    Signal transduction PKA signaling

    1 BioSystems Pathway for PHKG1
        Glycogen Metabolism


    1 Reactome Pathway for PHKG1
        Glycogen breakdown (glycogenolysis)


    2 Kegg Pathways  (Kegg details for PHKG1):
        Calcium signaling pathway
    Insulin signaling pathway


    PHKG1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PHKG1: 
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PHKG1

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

    Selected Interacting proteins for PHKG1 (Q168163 ENSP000002973734) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    CTRCQ998953, ENSP000003651164I2D: score=2 STRING: ENSP00000365116
    PHKG2P157353, ENSP000003299684I2D: score=2 STRING: ENSP00000329968
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process ----
    GO:0005978glycogen biosynthetic process IEA--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--

    PHKG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHKG1

    2 HMDB Compounds for PHKG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PHKG1 gene (3 alternative transcripts): 
    NM_001258459.1  NM_001258460.1  NM_006213.4  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297373(uc003try.1 uc003trz.1 uc011kdc.1 uc011kdd.1)
    ENST00000446428 ENST00000432123 ENST00000471665 ENST00000395428 ENST00000489604
    ENST00000467726 ENST00000492124 ENST00000452681(uc011kdb.1) ENST00000537360

    miRNA
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    GenScript: all cDNA clones in your preferred vector: PHKG1 (NM_006213)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHKG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKG1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHKG1
      QuantiTect SYBR Green Assays in human, mouse, rat PHKG1
      QuantiFast Probe-based Assays in human, mouse, rat PHKG1

    Selected AceView cDNA sequences (see all 64):

    F24670 BC069738 AA425001 BC051327 NM_006213 BQ672334 AI829975 BC074753 
    BC069754 AL119675 AA178918 AA495894 BC069679 CD622186 BC069655 F37313 
    F27458 BF509970 CD622184 CB154026 CD622163 F34525 CD622191 X80590 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PHKG1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                          -     -                 -                           
    SP2:                          -     -     -     -     -                           
    SP3:                          -     -                                             
    SP4:                                            -     -                           
    SP5:                                                                              


    ECgene alternative splicing isoforms for PHKG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PHKG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTGGAGG
    PHKG1 Expression
    About this image


    PHKG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Skeletal Muscle (Muscoskeletal System)
    PHKG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHKG1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including PHKG1: 
              Glucose Metabolism in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PHKG1
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    QuantiFast Probe-based Assays in human, mouse, rat PHKG1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKG1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PHKG1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phkg11 , 5 phosphorylase kinase gamma 11, 5 87.22(n)1
    93.52(a)1
      5 (68.26 cM)5
    186821  NM_011079.21  NP_035209.11 
     1298634215 
    chicken
    (Gallus gallus)
    Aves PHKG11 phosphorylase kinase, gamma 1 (muscle) 80.09(n)
    80.78(a)
      417543  NM_001006217.2  NP_001006217.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia psph-A2 phosphoserine phosphatase/phosphorylase kinase, gamma more 76.15(n)    BC043830.1 
    zebrafish
    (Danio rerio)
    Actinopterygii phkg1a1 phosphorylase kinase, gamma 1a (muscle) 70.04(n)
    74.29(a)
      565379  NM_001077612.1  NP_001071080.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PhKgamma3 embryonic morphogenesis protein
    serine/threonine more
    56(a)   1 10D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D7A.36
    Protein Y50D7A.3, isoform a
    32(a)
    1 → many
    III(254535-264396) WBGene00021753
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DUN16
    Cell-cycle checkpoint serine-threonine kinase requ...
    20(a)
    1 → many
    IV(280307-281848) YDL101C
    corn
    (Zea mays)
    Liliopsida AJ007366.12   -- 81.6(n)    AJ007366.1 


    ENSEMBL Gene Tree for PHKG1 (if available)
    TreeFam Gene Tree for PHKG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHKG1 gene
    PHKG22  
    Selected SIMAP similar genes for PHKG1 using alignment to 6 protein entries:     PHKG1_HUMAN (see all proteins) (see all similar genes):
    PHKG2    STK38L    PRKG2    NUAK1    MARK4    BRSK2
    CAMK1D    CHEK1    PRKAA1    DCLK2    PRKCG    RPS6KA4
    PNCK    DCLK3    MGC45428    AKT2    CAMKK2    MINK1

    PHKG1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for PHKG1 (see all 6)
    PGOHUM00000257819 PGOHUM00000232751 PGOHUM00000232754 PGOHUM00000232780 PGOHUM00000233323


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHKG1 (see all 346)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0409944
    A colorectal adenocarcinoma sample4--see VAR_0409942 V M mis40--------
    rs1388126141,2
    F--56148867(+) TAGGCG/ATCGAT 7 /D syn11Minor allele frequency- A:0.00NA 4552
    rs2004143531,2
    --56148878(+) GAGCCA/GGCGCA 7 R W mis10--------
    rs1414683251,2
    C,F--56148920(+) GATCTC/TCCGGG 7 K E mis12Minor allele frequency- T:0.00NA EU 5697
    rs1470142251,2
    C,F--56148922(+) TCTCCC/TGGGTC 7 Q R mis11Minor allele frequency- T:0.00NA 4538
    rs1494587081,2,,4
    C,F--56148944(+) CCGGCG/AGTACT 7 /R /C mis11Minor allele frequency- A:0.00NA 4492
    rs2012210031,2
    --56148977(+) CAGCAC/TGGTCA 7 M V mis10--------
    rs355154851,2
    C,F--56149074(+) GGGCTC/TGTTTG 4 -- int11Minor allele frequency- T:0.03EA 120
    rs112383921,2
    C,F,A,H--56149110(+) GGGGCC/TTTCCT 4 -- int19Minor allele frequency- T:0.10NS EA NA WA 778
    rs350466501,2
    C--56149125(+) TCCCCC/TACTTC 4 -- int15Minor allele frequency- T:0.12NA WA EA 362

    HapMap Linkage Disequilibrium report for PHKG1 (56148440 - 56160689 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PHKG1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734447CNV Deletion23290073
    esv2734448CNV Deletion23290073
    dgv1201e199CNV Deletion23128226
    esv28230CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHKG1
    DNA2.0 Custom Variant and Variant Library Synthesis for PHKG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 172470    OMIM disorders: --

    4 diseases for PHKG1:    
    About MalaCards
    muscle glycogenosis    phosphorylase kinase deficiency    glycogen storage disease    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for PHKG1:
    Glycogen storage disease

    PHKG1 for disorders           About GeneDecksing


    Export disorders for PHKG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PHKG1 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with PHKG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1). (PubMed id 8530014)1, 2, 3 Wehner M. and Kilimann M.W. (Hum. Genet. 1995)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    4. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    5. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (Nature 2007)
    6. In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1. (PubMed id 17692548)1 Winchester J.S....Rice N.A. (Mol. Genet. Metab. 2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. Proteomic analysis of steady-state nuclear hormone receptor coactivator complexes. (PubMed id 16051665)1 Jung S.Y....Qin J. (Mol. Endocrinol. 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PubMed id 12825073)1 Burwinkel B.... Kilimann M.W. (Eur. J. Hum. Genet. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5260 HGNC: 8930 AceView: PHKG1 Ensembl:ENSG00000164776 euGenes: HUgn5260
    ECgene: PHKG1 Kegg: 5260 H-InvDB: PHKG1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHKG1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PHKG1 gene:
    Search GeneIP for patents involving PHKG1

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



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