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

PHKG1 Gene

protein-coding   GIFtS: 64
GCID: GC07M056115

phosphorylase kinase, gamma 1 (muscle)


(Previous symbol: PHKG)
 Explore 5 diseases affiliated with
PHKG1 via our new
 Human Malady Compendium 
Biological research products
for PHKG1
    

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

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-M1     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PHKG1:
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_033968.6  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PHKG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16816

  • 4/20 DME Specific Peptides for PHKG1 (Q16816) (see all 20)
     RDPYALR  GYGKEVD  IKLTDFG  LSEKETR 

    PHKG1 Protein expression data from MOPED and PaxDb:    About this image 
    PHKG1 Protein Expression
    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
    Human Recombinant Protein Products for PHKG1: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--
    GO:0005964phosphorylase kinase complex IEA--

    PHKG1 for ontologies           About GeneDecksing



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

    PHKG1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q16816

    ProtoNet protein and cluster: Q16816

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ----
    GO:0004689phosphorylase kinase activity IEA--
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP 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 - Customizable classic, inducible, and humanized mouse model solutions for PHKG1 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    Signal transduction_PKA signaling0.23
    Signal transduction_cAMP signaling0.44
    Signal transduction PKA signaling0.23
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    3Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)1.00
    Glycogen Metabolism0.35
    4PKA activation in glucagon signalling
    Development Beta-adrenergic receptors signaling via cAMP0.29
    Development_Beta-adrenergic receptors signaling via cAMP0.29
    5Glucose metabolism
    Glucose metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for PHKG1
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling
    Signal transduction PKA signaling

    4 Downloadable PowerPoint Slides of QIAGEN 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

    4        Reactome Pathways for PHKG1
        Metabolism of carbohydrates
    Glycogen breakdown (glycogenolysis)
    Metabolism
    Glucose metabolism


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


    PHKG1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHKG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/24 Interacting proteins for PHKG1 (Q168163 ENSP000002973734) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005978glycogen biosynthetic process IEA--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006468protein phosphorylation ----

    PHKG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    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--
    Search CenterWatch for drugs/clinical trials and news about PHKG1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PHKG1 gene (3 alternative transcripts): 
    NM_001258459.1  NM_001258460.1  NM_006213.4  

    Unigene Cluster for PHKG1:

    Phosphorylase kinase, gamma 1 (muscle)
    Hs.730821  [show with all ESTs]
    Unigene Representative Sequence: NM_001258459
    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


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    Additional cDNA sequence: 

    AK293180.1 AK299429.1 AK300928.1 AK309503.1 AK312851.1 BC051327.1 BC069655.1 BC069679.1 
    BC069738.1 BC069754.1 BC074753.2 NR_047689.1 X80590.1 

    12 DOTS entries:

    DT.121122388  DT.97802362  DT.456310  DT.91788324  DT.121122309  DT.100798366  DT.121122478  DT.40113665 
    DT.100798356  DT.121122391  DT.121122467  DT.97852254 

    24/64 AceView cDNA sequences (see all 64):

    BC069754 BC051327 BC069738 AA425001 AI829975 BC074753 F24670 NM_006213 
    BQ672334 AL119675 CD622184 CD622191 F37313 AA178918 AA495894 CB154026 
    CD622163 X80590 CD622180 F27458 CD622186 CD622165 CD622175 BF509970 

    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™, 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

    PHKG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTTGGAGG
    PHKG1 Expression
    About this image
    See PHKG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHKG1

    SOURCE GeneReport for Unigene cluster: Hs.730821
        SABiosciences Expression via Pathway-Focused PCR Array including PHKG1: 

              Glucose Metabolism in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PHKG1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PHKG11 phosphorylase kinase, gamma 1 (muscle) 80.17(n)
    80.78(a)
      417543  NM_001006217.1  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) 70.13(n)
    74.29(a)
      565379  NM_001077612.1  NP_001071080.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PhK&ggr;3 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(254534-264395)
    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)
    About This Section
    Paralogs for PHKG1 gene
    PHKG22  
    18/99 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    NEK5
    BRSK2    CAMK1D    CHEK1    MELK    PRKAA1    DCLK2
    PRKCG    RPS6KA4    PNCK    DCLK3    MGC45428    AKT2

    PHKG1 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for PHKG1 (see all 6)
    PGOHUM00000257819 PGOHUM00000232751 PGOHUM00000232754 PGOHUM00000232780 PGOHUM00000233323


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/285 NCBI SNPs in PHKG1 are shown (see all 285    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs108001,2
    C,F,O,H--56147589(+) AAACAA/GTTGGA 9 -- ut31 ds500130Minor allele frequency- G:0.29MN EA NA NS WA EU 5332
    rs115433311,2
    C--56147736(+) GTGGAA/GGGAGA 9 -- ds5001 ut312Minor allele frequency- G:0.00NA 4
    rs776661531,2
    --56147763(+) CTCATC/GTGTGG 9 -- ut31 ds50011Minor allele frequency- G:0.01EA 120
    rs1482151541,2
    --56147773(+) GTTTCA/GTGTCC 9 -- ut31 ds50010--------
    rs1860769851,2
    --56147848(+) GTCCTA/GAAAGG 9 -- ut31 ds50010--------
    rs557726211,2
    C--56147898(+) ATTGTA/GGGAAT 9 -- ut31 ds50010--------
    rs2004962881,2
    C--56147953(+) CTATTC/TTTTTT 9 -- ut31 ds50010--------
    rs1898029891,2
    --56148025(+) GATCAC/TGGCTC 9 -- ut31 nc-transcript-variant0--------
    rs1427352851,2
    --56148365(+) CTCAGA/TCATTT 9 -- ut31 nc-transcript-variant0--------
    rs125358721,2
    C,F,H--56148519(+) ATCTCG/TGCCCA 9 -- int1 ds5001 nc-transcript-variantut31 ese32Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for PHKG1 (56148440 - 56160689 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PHKG1
         1 CNV: 64828

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    (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.)
    About This Section

    PHKG1 for disorders           About GeneDecksing

    OMIM gene information: 172470    OMIM disorders: --

    5 diseases for PHKG1:    About MalaCards
    muscle glycogenosis    glycogen storage disease    alzheimer's disease    malaria
    alcoholism

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

    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)
    About This Section

    PubMed articles for PHKG1 gene, integrated from 9 sources (see all 28):
    (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. (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. (2004)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    4. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (2007)
    5. 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. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. Proteomic analysis of steady-state nuclear hormone receptor coactivator complexes. (PubMed id 16051665)1 Jung S.Y....Qin J. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. 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. (2003)
    10. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1 Gevaert K.... Vandekerckhove J. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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: 5260 HGNC: 8930 AceView: PHKG1 Ensembl:ENSG00000164776 euGenes: HUgn5260
    ECgene: PHKG1 Kegg: 5260 H-InvDB: PHKG1

    (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 PHKG1 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 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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