Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PYGL Gene

protein-coding   GIFtS: 66
GCID: GC14M051324

phosphorylase, glycogen, liver

(Previous names: phosphorylase, glycogen; liver )
 Explore 9 diseases affiliated with
PYGL via our new
 Human Malady Compendium 
Biological research products
for PYGL
    

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

Aliases
Phosphorylase, Glycogen, Liver1 2
EC 2.4.1.13 8
Phosphorylase, Glycogen; Liver1
GSD62
Glycogen Phosphorylase, Liver Form2

External Ids:    HGNC: 97251   Entrez Gene: 58362   Ensembl: ENSG000001005047   OMIM: 6137415   UniProtKB: P067373   

Export aliases for PYGL gene to outside databases

Previous GC identifers: GC14M048693 GC14M045167 GC14M049361 GC14M050441 GC14M051371 GC14M031497


(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 PYGL:
This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release
glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active
phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple
allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct
isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic
demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage
disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of
glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly.
Alternative splicing results in multiple transcript variants encoding different isoforms.(provided by RefSeq, Feb
2011)

UniProtKB/Swiss-Prot: PYGL_HUMAN, P06737
Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources
differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share
catalytic and structural properties




(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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PYGL gene promoter:
         SREBP-1c   Lmo2   C/EBPalpha   SREBP-1b   E47   SREBP-1a   ZID   Zic3   Hlf   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPYGL promoter sequence
   Search SABiosciences Chromatin IP Primers for PYGL

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


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

Entrez Gene cytogenetic band: 14q21-q22   Ensembl cytogenetic band:  14q22.1   HGNC cytogenetic band: 14q11.2-q24.3

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M051324:  view genomic region     (about GC identifiers)

Start:
51,324,609 bp from pter      End:
51,411,454 bp from pter
Size:
86,846 bases      Orientation:
minus strand

(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: PYGL_HUMAN, P06737 (See protein sequence)
Recommended Name: Glycogen phosphorylase, liver form  
Size: 847 amino acids; 97149 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Interacts with
PPP1R3B (By similarity)
6/18 PDB 3D structures from and Proteopedia for PYGL (see all 18):
1EM6 (3D)        1EXV (3D)        1FA9 (3D)        1FC0 (3D)        1L5Q (3D)        1L5R (3D)    
Secondary accessions: A6NDQ4 B4DUB7 F5H816 O60567 O60752 O60913 Q501V9 Q641R5 Q96G82
Alternative splicing: 2 isoforms:  P06737-1   P06737-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PYGL: NX_P06737

Post-translational modifications:

  • Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P06737

  • 4/39 DME Specific Peptides for PYGL (P06737) (see all 39)
     DLSEQIS  DTQVVLA  NTMINLG  IPELMRI 

    PYGL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001157412.1  NP_002854.3  

    ENSEMBL proteins: 
     ENSP00000431657   ENSP00000433040   ENSP00000216392   ENSP00000443787  
    Reactome Protein details: P06737
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PYGL
    OriGene Protein Over-expression Lysate: PYGL
    OriGene Custom Protein Services for PYGL 
    GenScript Custom Purified and Recombinant Proteins Services for PYGL
    Novus Biologicals PYGL Protein
    Novus Biologicals PYGL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PYGL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--


    PYGL for ontologies           About GeneDecksing



    PYGL Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PYGL 
    GenScript Custom Superior Antibodies Services for PYGL
    Novus Biologicals PYGL Antibodies
    Search for Antibodies for PYGL at Abcam  
    Uscn Antibodies for PYGL
    Search ThermoFisher Antibodies for PYGL

    Assay Products for PYGL: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PYGL
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PYGL


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

    PYGL for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011833 Glycg_phsphrylas
     IPR000811 Glyco_trans_35

    Graphical View of Domain Structure for InterPro Entry P06737

    ProtoNet protein and cluster: P06737

    1 Blocks protein family: IPB000811 Glycosyl transferase

    UniProtKB/Swiss-Prot: PYGL_HUMAN, P06737
    Similarity: Belongs to the glycogen phosphorylase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PYGL_HUMAN, P06737
    Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources
    differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share
    catalytic and structural properties
    Catalytic activity: (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate
    Enzyme regulation: Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of
    metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and
    glucose-6-phosphate allosterically inhibit, phosphorylase B

         Genatlas biochemistry entry for PYGL:
    phosphorylase,glycogen catabolism,liver

    Enzyme Number (IUBMB): EC 2.4.1.11 2

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): PYGL
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PYGL
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PYGL
    SwitchGear 3'UTR luciferase reporter plasmidPYGL 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PYGL (see all 7)
    OriGene shRNA RFP: PYGL
    OriGene siRNA: PYGL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PYGL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PYGL

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PYGL (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PYGL (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): PYGL (NM_002863)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PYGL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PYGL 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PYGL
    Search LifeMap BioReagents cell lines for PYGL

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYGL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002060purine nucleobase binding IDA12204691
    GO:0004645phosphorylase activity ----
    GO:0005524ATP binding IDA10949035
    GO:0005536glucose binding NAS12204691
    GO:0008144drug binding IDA10980448


    PYGL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PYGL:
     Upregulation of Wnt/beta-caten 


    (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 - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Galactose metabolism
    Galactose metabolism1.00
    Glycogen metabolism0.40
    Galactose metabolism0.95
    Glycogen metabolism0.40
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)1.00
    Glycogen Metabolism0.35
    4Glucose metabolism
    Glucose metabolism1.00
    5Metabolism
    Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for PYGL
        Glycogen metabolism
    Galactose metabolism

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PYGL
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    2 GeneGo (Thomson Reuters) Pathways for PYGL
        Galactose metabolism
    Glycogen metabolism

    1 BioSystems Pathway for PYGL 
        Glycogen Metabolism

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


    2         Kegg Pathways  (Kegg details for PYGL):
        Starch and sucrose metabolism
    Insulin signaling pathway


    PYGL for pathways           About GeneDecksing

    Interactions:

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

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

    5/197 Interacting proteins for PYGL (P067372, 3 ENSP000002163924) via UniProtKB, MINT, STRING, and/or I2D (see all 197)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process IMP10980448
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:00060155-phosphoribose 1-diphosphate biosynthetic process IEA--


    PYGL 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

    PYGL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PYGL

    10 HMDB Compounds for PYGL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    Gluconolactone1,5-Gluconolactone (see all 35)90-80-2--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Purine1H-Purine (see all 26)120-73-0--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Riboflavin(-)-Riboflavin (see all 30)83-88-5--

    10/13 DrugBank Compounds for PYGL (see all 13)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    5-Chloro-1h-Indole-2-Carboxylic Acid{[Cyclopentyl-(2-Hydroxy-Ethyl)-Carbamoyl]-Methyl}-Amide-- --target--17139284 17016423 10592235
    Cp403700, (S)-1-{2-[(5-Chloro-1h-Indole-2-Carbonyl)-Amino]-3-Phenyl-Propionyl}-Azetidine-3-Carboxylate-- --target--17139284 17016423 10592235
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423 17705025
    1-N-Acetyl-Beta-D-Glucosamine-- --target--17139284 17016423
    7,9-Dihydro-1h-Purine-2,6,8(3h)-Trione-- 69-93-2target--17139284 17016423
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetactivator17139284 17016423
    Beta-D-Glucose-- 50-99-7target--17139284 17016423
    CP-5264231,2-bis(2-(5-chloroindole-2-carbonylamino)ethoxy)ethane (see all 3)--target--17139284 17016423
    Phosphonoserine-- --target--17139284 17016423
    1-{2-[3-(2-Chloro-4,5-difluoro-benzoyl)-ureido]-4-fluoro-phenyl}-piperidine-4-carboxylic acid-- --target--10592235

    3 Novoseek chemical compound relationships for PYGL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 82.7 67 10980448 (3), 10949035 (3), 17705025 (3), 15223230 (3) (see all 32)
    thiocyanate 51.2 1 10360741 (1)
    glucose 40.6 9 16945526 (1), 10980448 (1), 12204691 (1), 10949035 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about PYGL 

    (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, 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 PYGL gene (2 alternative transcripts): 
    NM_001163940.1  NM_002863.4  

    Unigene Cluster for PYGL:

    Phosphorylase, glycogen, liver
    Hs.282417  [show with all ESTs]
    Unigene Representative Sequence: BC110791
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532462 ENST00000531889(uc010anz.1) ENST00000216392(uc001wyu.3)
    ENST00000532107 ENST00000528757 ENST00000553872 ENST00000530336(uc001wyw.4)
    ENST00000544180(uc010tqq.2)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 2): PYGL
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PYGL
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PYGL
    SwitchGear 3'UTR luciferase reporter plasmidPYGL 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PYGL (see all 7)
    OriGene shRNA RFP: PYGL
    OriGene siRNA: PYGL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PYGL
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PYGL (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PYGL (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): PYGL (NM_002863)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PYGL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PYGL 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PYGL
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PYGL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PYGL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PYGL

    Additional cDNA sequence: 

    AF046785.1 AF066858.1 AK225904.1 AK300580.1 AK309333.1 AK313206.1 AY429567.1 BC009895.2 
    BC065011.1 BC082229.1 BC095850.1 BC110791.1 M14636.1 M36807.1 Y15233.1 

    12 DOTS entries:

    DT.456239  DT.40114214  DT.92437493  DT.97785611  DT.75157031  DT.91659753  DT.95172272  DT.100654951 
    DT.100717387  DT.100841531  DT.107816  DT.92437495 

    24/244 AceView cDNA sequences (see all 244):

    BM788535 CR593967 BU680183 BM678467 CR600182 AI697369 CR623284 BX097093 
    CB161603 W78842 BM467793 BQ936037 BU507725 BF509899 BG765136 CA441978 
    BP337901 CA406405 BQ935836 BM476749 BM013830 BU164642 BG252323 BM835766 

    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

    PYGL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATCCAAAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PYGL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PYGL

    SOURCE GeneReport for Unigene cluster: Hs.282417
        SABiosciences Expression via Pathway-Focused PCR Arrays including PYGL: 
              Necrosis in human mouse rat
              Hepatotoxicity in human mouse rat
              Diabetes in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PYGL
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PYGL
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PYGL
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PYGL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYGL

    (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 last universal common ancestor (LUCA).

    Orthologs for PYGL gene from 7/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PYGL1 phosphorylase, glycogen, liver 79.68(n)
    87.5(a)
      378909  NM_204392.1  NP_989723.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pygl6
    phosphorylase, glycogen; liver (Hers disease, glyc...
    62(a)
    1 ↔ 1
    13(37248655-37264905)
    fruit fly
    (Drosophila melanogaster)
    Insecta GlyP3 carbohydrate metabolism phosphorylase 72(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T22F3.36
    Phosphorylase
    64(a)
    1 → many
    V(3579044-3585042)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G293201 glycosyl transferase, family 35 protein 54.82(n)
    48.56(a)
      822590  NM_113857.3  NP_189578.1 
    rice
    (Oryza sativa)
    Liliopsida Os.112162 Oryza sativa alpha 1,4-glucan phosphorylase L isozyme mRNA, partial cds less 75.57(n)    AF327055.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria glgP6
    malP6
    maltodextrin phosphorylase
    49(a)
    43(a)
    possible ortholog
    possible ortholog
    Chromosome(3562157-3564604)
    Chromosome(3548102-3550495)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PYGL gene
    PYGM2  PYGB2  
    2 SIMAP similar genes for PYGL using alignment to 4 protein entries:     PYGL_HUMAN (see all proteins):
    PYGB    PYGM

    PYGL for paralogs           About GeneDecksing



    (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

    10/870 NCBI SNPs in PYGL are shown (see all 870    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350269271,2
    C,F,pathogenic31504090(-) ACAATG/CACCCT 4 /H /D mis13Minor allele frequency- C:0.00NA EU 5928
    rs1139939791,2
    C,pathogenic31507654(-) ATGGCA/GTGGCT 4 M V mis10--------
    rs1139939771,2
    Cpathogenic31508214(-) ACCAAC/GCACAC 4 N K mis10--------
    rs1139939731,2
    Cpathogenic31530075(-) TGGGCC/TGAACA 3 R * stg1 int10--------
    rs71588031,2
    C,F,A,H,--31497021(+) TGAAAC/TCTAAT 2 -- ds500116Minor allele frequency- T:0.06NS EA NA WA CSA 1456
    rs32160011,2
    C,F,--31497673(-) AGAAT-/TGTCTC 2 -- ut315Minor allele frequency- T:0.36NA CSA 14
    rs740518441,2
    C,--31498213(+) CCATTG/ATCTGC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs611418281,2
    F,--31498495(+) AGGAAT/CTTATT 2 -- int11Minor allele frequency- C:0.09WA 118
    rs566872051,2
    F,--31498615(+) CTACCA/GTCATT 2 -- int11Minor allele frequency- G:0.09WA 118
    rs101453321,2
    C,F,--31498834(+) TGAACA/CAGAAA 2 -- int11Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for PYGL (51324609 - 51411454 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for PYGL
         1 CNV: 7037
         3 Indels: 40043 43140 61386
    Human Gene Mutation Database (HGMD): PYGL

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PYGL
    DNA2.0 Custom Variant and Variant Library Synthesis for PYGL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PYGL for disorders           About GeneDecksing

    OMIM gene information: 613741    OMIM disorders: --

    UniProtKB/Swiss-Prot: PYGL_HUMAN, P06737
  • Defects in PYGL are the cause of glycogen storage disease type 6 (GSD6) [MIM:232700]. A metabolic disorder
  • characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart
    and skeletal muscle are not affected

    9 diseases for PYGL:    About MalaCards
    glycogen storage disease    hypoglycemia    glycogen storage disease vi    metabolic disorders
    hyperinsulinism    hyperglycemia    pneumonia    tuberculosis
    mycobacterium tuberculosis

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

    2 Novoseek disease relationships for PYGL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease type vi 95 3 8275705 (1), 9536091 (1)
    hepatomegaly 49.1 1 15223230 (1)

    GeneTests: PYGL
    Glycogen Storage Disease Type VI

    Genetic Association Database (GAD): PYGL
    Human Genome Epidemiology (HuGE) Navigator: PYGL (3 documents)

    Export disorders for PYGL 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 PYGL gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with PYGL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage. (PubMed id 2877458)1, 2, 3 Newgard C.B.... Fletterick R.J. (1986)
    2. Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL). (PubMed id 15223230)1, 4, 9 Tomihira M....Nunoi K. (2004)
    3. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. (PubMed id 9536091)1, 2, 9 Chang S.... Biesecker L.G. (1998)
    4. High frequency of missense mutations in glycogen storage disease type VI. (PubMed id 17705025)1, 7, 9 Beauchamp N.J....Sharrard M.J. (2007)
    5. Human liver glycogen phosphorylase inhibitors bind at a new allosteric site. (PubMed id 10980448)1, 2, 9 Rath V.L.... Hoover D.J. (2000)
    6. Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core. (PubMed id 10949035)1, 2, 9 Rath V.L.... Pandit J. (2000)
    7. Structure-activity analysis of the purine binding site of human liver glycogen phosphorylase. (PubMed id 12204691)1, 2, 9 Ekstrom J.L.... Rath V.L. (2002)
    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. Mutations in the liver glycogen phosphorylase gene 'PYGL' underlying glycogenosis type VI. (PubMed id 9529348)1, 2 Burwinkel B....Kilimann M.W. (1998)
    10. McArdle's & Hers' diseases: glycogen phosphorylase transcriptional expression in human tissues. (PubMed id 3509980)1, 2 Gorin F.A.... Kurnit D.M. (1987)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5836 HGNC: 9725 AceView: PYGL Ensembl:ENSG00000100504 euGenes: HUgn5836
    ECgene: PYGL Kegg: 5836 H-InvDB: PYGL

    (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 PYGL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGL

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

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for PYGL  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PYGL   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PYGL  
     OriGene Protein Over-expression Lysate for PYGL   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for PYGL   OriGene 3'-UTR Clone for PYGL  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PYGL   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PYGL  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for PYGL   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PYGL   OriGene Custom Protein Services for PYGL  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PYGL
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PYGL
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PYGL
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PYGL
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PYGL
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PYGL
     GenScript Custom Purified and Recombinant Proteins Services for PYGL GenScript cDNA clones with any tag delivered in your preferred vector for PYGL
     GenScript Custom Assay Services for PYGL GenScript Custom Superior Antibodies Services for PYGL
     GenScript Custom overexpressing Cell Line Services for PYGL CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PYGL promoter
     Search Chromatin IP Primers for PYGL
     RT2 qPCR Primer Assay in human, mouse, rat PYGL
     Search GNC Networks for PYGL
     SABiosciences PCR Arrays including human, mouse, rat PYGL
     Search Tocris compounds for PYGL
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PYGL antibodies
     PYGL proteins
     PYGL lysates
     Search for Antibodies for PYGL at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PYGL
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     PYGL Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for PYGL
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYGL
     SwitchGear 3'UTR luciferase reporter plasmids for PYGL
     SwitchGear Promoter luciferase reporter plasmids for PYGL
     Search ThermoFisher Antibodies for PYGL
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PYGL
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PYGL gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4