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

PYGL Gene

protein-coding   GIFtS: 69
GCID: GC14M051324

Phosphorylase, Glycogen, Liver

(Previous names: phosphorylase, glycogen; liver)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Phosphorylase, Glycogen, Liver1 2     Liver Form1
EC 2.4.1.13 8     Phosphorylase, Glycogen; Liver1
Glycogen Phosphorylase1     GSD62
Glycogen Storage Disease Type VI1     Glycogen Phosphorylase, Liver Form2
Hers Disease1     

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 Gene:
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)

GeneCards Summary for PYGL Gene: 
PYGL (phosphorylase, glycogen, liver) is a protein-coding gene. Diseases associated with PYGL include glycogen storage disease vi, and glycogen storage disease, and among its related super-pathways are Metabolic pathways and Glycogen Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and protein homodimerization activity. An important paralog of this gene is PYGM.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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

Explore proteomics data for PYGL at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A
  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000431657   ENSP00000443787   ENSP00000216392  
    Reactome Protein details: P06737
    Human Recombinant Protein Products for PYGL: 
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    Cloud-Clone Corp. Proteins for PYGL 

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

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

    PYGL for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PYG: Glycogen phosphorylases

    2 InterPro protein domains:
     IPR011833 Glycg_phsphrylas
     IPR000811 Glyco_trans_35

    Graphical View of Domain Structure for InterPro Entry P06737

    ProtoNet protein and cluster: P06737

    1 Blocks protein domain: IPB000811 Glycosyl transferase

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


    PYGL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    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


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

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

    SuperPaths for PYGL About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)0.34
    Glycogen Metabolism0.34
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Galactose metabolism
    Galactose metabolism0.46
    Glycogen metabolism0.40
    5Glucose metabolism
    Glucose metabolism0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    3         Kegg Pathways  (Kegg details for PYGL):
        Starch and sucrose metabolism
    Metabolic pathways
    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, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

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

    REFSEQ mRNAs for 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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532462 ENST00000544180(uc010tqq.2) ENST00000216392(uc001wyu.3)
    ENST00000532107 ENST00000528757 ENST00000553872 ENST00000530336(uc001wyw.4)

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    Additional mRNA 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):

    BM467793 CA406405 BG104704 W78842 AU130182 BU164642 BM788535 BG252323 
    BP337901 BE884737 BM849406 BM463918 BM835766 CA487777 CA441978 BG765136 
    AU122687 BM476749 BM013830 BU507725 BX097093 AI080747 AI697369 BQ936037 

    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)      PYGL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCCAAAGG
    PYGL Expression
    About this image


    PYGL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             Conventional Dendritic Cells II Spleen
             spleen ; cells in red pulp   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon

    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

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PYGL gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pygl1 , 5 liver glycogen phosphorylase1, 5 88.78(n)1
    94.92(a)1
      12 (29.01 cM)5
    1100951  NM_133198.21  NP_573461.21 
     701908115 
    chicken
    (Gallus gallus)
    Aves PYGL1 phosphorylase, glycogen, liver 79.68(n)
    87.5(a)
      378909  NM_204392.1  NP_989723.1 
    lizard
    (Anolis carolinensis)
    Reptilia PYGL6
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343850.1(12752-88385)
    zebrafish
    (Danio rerio)
    Actinopterygii pygl6
    phosphorylase, glycogen; liver (Hers disease, glyc...
    65(a)
    1 ↔ 1
    13(37248655-37264905)
    fruit fly
    (Drosophila melanogaster)
    Insecta GlyP3 carbohydrate metabolism phosphorylase 72(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T22F3.36
    Protein T22F3.3, isoform a
    64(a)
    1 → many
    V(3579047-3585045)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPH16
    Non-essential glycogen phosphorylase required for ...
    46(a)
    1 → many
    XVI(861306-864014)
    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 more 75.57(n)    AF327055.1 


    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, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1105 SNPs in PYGL are shown (see all 1105)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0079094
    Glycogen storage disease 6 (GSD6)4--see VAR_0079092 N K mis40--------
    VAR_0079084
    Glycogen storage disease 6 (GSD6)4--see VAR_0079082 N S mis40--------
    rs350269271,2
    C,Fpathogenic132361463(-) ACAATG/CACCCT 4 /H /D mis13Minor allele frequency- C:0.00NA EU 5928
    rs1139939821,2
    Cpathogenic132361819(-) CAACCA/C/GTGAGT 2 -- spd10--------
    rs1139939811,2
    Cpathogenic132362692(-) AGCAGA/GTGAGC 2 -- spd10--------
    rs1139939791,2
    Cpathogenic132365037(-) ATGGCA/GTGGCT 4 M V mis10--------
    rs1139939771,2
    Cpathogenic132365597(-) ACCAAC/GCACAC 4 N K mis10--------
    rs1139939731,2
    Cpathogenic132387463(-) TGGGCC/TGAACA 3 R * stg1 int10--------
    rs1494273421,2
    C--31535095(+) GTCTC-/AAACA 
            
    AAACA
    2 -- int10--------
    rs2017208791,2
    C--31535096(+) GTCTC-/AAACA 
            
    AAACA
    2 -- int10--------

    HapMap Linkage Disequilibrium report for PYGL (51324609 - 51411454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PYGL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv4830CNV Deletion18987735
    esv2748710CNV Deletion23290073
    nsv820614CNV Deletion20802225
    nsv901938CNV Loss21882294
    esv7846CNV Loss19470904
    nsv832794CNV Gain17160897
    esv33577CNV Gain17666407
    nsv826951CNV Gain20364138
    nsv826950CNV Gain+Loss20364138


    Human Gene Mutation Database (HGMD): PYGL
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613741    OMIM disorders: --

    UniProtKB/Swiss-Prot: PYGL_HUMAN, P06737
  • Glycogen storage disease 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for PYGL:    About MalaCards
    glycogen storage disease vi    glycogen storage disease    hypoglycemia    hyperinsulinism
    metabolic disorders    hyperglycemia    pneumonia    type 1 diabetes
    tuberculosis

    5 diseases from the University of Copenhagen DISEASES database for PYGL:
    Glycogen storage disease     Diabetes mellitus     Hyperglycemia     Myopathy
    Hypoglycemia

    PYGL for disorders           About GeneDecksing

    2 Novoseek inferred 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
    GeneReviews: PYGL
    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 68):
    (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    10. 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)

    (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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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