Aliases &
Descriptions
for PYGM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| phosphorylase, glycogen, muscle1 2 | | phosphorylase, glycogen; muscle1 | | glycogen phosphorylase, muscle form2 | | myophosphorylase2 | | EC 2.4.1.13 | | Myophosphorylase3 |
Export aliases for PYGM gene to outside databasesPrevious GC identifers: GC11M067029 GC11M066195 GC11M064763 GC11M064289 GC11M064272 GC11M064513 |
Summaries
for PYGM gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PYGM:
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes arefound in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), aglycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.
UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sourcesdiffer in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases sharecatalytic and structural properties
|
Genomic Views
for PYGM gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PYGM gene promoter:
Egr-1 NRSF form 1 NRSF form 2 Chx10 p53 MIF-1 RORalpha2 SRF ATF-2 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for PYGM
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q12-q13.2 Ensembl cytogenetic band: 11q13.1 HGNC cytogenetic band: 11q12-q13.2PYGM Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M060840: view genomic region
(about GC identifiers)
Start:
|
60,840,630 bp from pter |
End:
|
60,855,032 bp from pter |
Size:
|
14,403 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr11- 64,513,861-64,527,769 |
RefSeq DNA sequence:- NC_000011.9 NT_167190.1
|
Proteins
for PYGM gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217 (See
protein sequence)Recommended Name: Glycogen phosphorylase, muscle form Size: 842 amino acids; 97092 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A
PDB structures from  and Proteopedia  :1Z8D (3D)
Secondary accessions: A0AVK1Explore the universe of human proteins at neXtProt for PYGM: NX_P11217
Post-translational modifications:
Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_001158188.1 NP_005600.1
ENSEMBL proteins: ENSP00000409878 ENSP00000366650 ENSP00000164139
Human Recombinant Proteins
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
PYGM for ontologies About GeneDecksing
Antibodies for PYGM:
Assays for PYGM: |
Protein
Domains/
Families
for PYGM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PYGM for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P11217ProtoNet protein and cluster: P11217 1 Blocks protein family: IPB000811 Glycosyl transferase
UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217Similarity: Belongs to the glycogen phosphorylase family |
Gene Function
for PYGM gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sourcesdiffer in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases sharecatalytic and structural propertiesCatalytic activity: (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphateEnzyme regulation: Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding ofmetabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, andglucose-6-phosphate allosterically inhibit, phosphorylase BEnzyme Number (IUBMB): EC 2.4.1.1
Genatlas biochemistry entry for PYGM:phosphorylase,glycogen catabolism,muscle5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9): About this table
PYGM for ontologies About GeneDecksing
|
Pathways & Interactions
for PYGM gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
PYGM for pathways About GeneDecksing
3  Millipore Pathways for PYGM
2  Kegg Pathways (Kegg details for PYGM):
SABiosciences Pathway-Focused PCR Array including PYGM: PAHS-006A
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PYGM
4 Interacting proteins for PYGM (P112171, 2) via UniProtKB, MINT, and/or STRINGAbout this table
5/8 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 8): About this table
PYGM for ontologies About GeneDecksing
|
Drugs & Compounds
for PYGM gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
PYGM for compounds About GeneDecksing
 Browse Tocris compounds for PYGM
10/13  Novoseek chemical compound relationships for PYGM gene (see all 13)
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| glycogen |
84.7 |
109 |
9502427 (2), 19878922 (2), 8779956 (2), 8576226 (2) (see all 74) |
| galactose-1-phosphate |
52.3 |
2 |
2364636 (1), 16691548 (1) |
| phosphocreatine |
49.6 |
1 |
8457430 (1) |
| lactate |
43.9 |
10 |
2364636 (1), 16924035 (1), 12640006 (1), 8983689 (1) (see all 8) |
| creatinine |
39.2 |
4 |
10891977 (2), 10438462 (1), 10716777 (1) |
| pyruvate |
34.2 |
4 |
10438462 (1), 12223025 (1), 7998768 (1) |
| glucose |
30 |
15 |
8576226 (2), 8889763 (2), 12223025 (2), 9502427 (1) (see all 11) |
| carnitine |
28.5 |
3 |
19240776 (1), 10924019 (1) |
| arginine |
10.1 |
2 |
8845714 (1), 10590419 (1) |
| caffeine |
4.86 |
2 |
9688698 (1) |
About this table
|
Transcripts
for PYGM gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for PYGM gene (2 alternative transcripts): NM_001164716.1 NM_005609.2 Additional cDNA sequence: AF066859.1 AK056607.1 AK057547.1 AK299376.1 AK299461.1 AK314474.1 BC029305.1 BC126392.1 BC130514.1 M16013.1 X03031.1 12 DOTS entries: DT.95076615 DT.97801128 DT.417914 DT.120719837 DT.100782115 DT.97807894 DT.92421659 DT.100807061 DT.92421671 DT.120719831 DT.120719833 DT.120719835 24/197 AceView cDNA sequences (see all 197): BQ359249 BU145226 AK056607 F25922 F29891 F27130 F27406 F28742 F21556 F18656 W69291 F34675 BM263112 F27657 F30404 H44484 BQ689227 BM728956 BI759873 AA100564 BM142683 AA348514 BM987822 AJ573122
 highest scoring ESTs for PYGM:AA348514 AF066859 AK056607 AU099635 BC029305 BI756229 BI759873 BI818303 BU189906 BU581054 Unigene Cluster for PYGM: Phosphorylase, glycogen, muscle Hs.154084 [show with all ESTs]Unigene Representative Sequence: NM_005609
GeneLoc Exon Structure
6 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000462303 ENST00000436572 ENST00000460413 ENST00000377432 ENST00000483742
ENST00000164139(uc001oax.3 uc001oay.3)
|
Expression
for PYGM gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| PYGM expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching PYGM gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 40057_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
1.00 |
1.00 |
U94777 |
0.20 |
1.00 |
0.72 |
1 |
| 205577_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_005609 |
0.60 |
1.00 |
0.82 |
1 |
| 205577_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
PYGM for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: CAGAGGGTGG
SOURCE GeneReport for Unigene cluster: Hs.154084
Expression variation in blood from EXPOLDB for PYGM SABiosciences Expression via Pathway-Focused PCR Array including PYGM: PAHS-006A
|
Orthologs
for PYGM gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for PYGM gene from 5/11 species (see all 11)
| Organism |
Gene |
Locus |
Description |
Human
Similarity |
NCBI accessions |
dog
(Canis familiaris) |
PYGM1 |
-- |
phosphorylase, glycogen, muscle |
90.62(n)
96.67(a) |
611078 XM_861895.1 XP_866988.1 |
chimpanzee
(Pan troglodytes) |
PYGM1 |
-- |
phosphorylase, glycogen, muscle |
99.45(n)
99.52(a) |
451299 XM_001165783.1 XP_001165783.1 |
cow
(Bos taurus) |
PYGM1 |
-- |
phosphorylase, glycogen, muscle |
91.96(n)
95.84(a) |
327664 NM_175786.2 NP_786980.1 |
rat
(Rattus norvegicus) |
Pygm1 |
-- |
phosphorylase, glycogen, muscle |
89.03(n)
96.79(a) |
24701 XM_342002.3 XP_342003.1 |
mouse
(Mus musculus) |
Pygm1 , 5 |
19 (4.53 cM)5
|
muscle glycogen phosphorylase1, 5 |
89.47(n)1
97.03(a)1 |
193091 NM_011224.11 NP_035354.11
AF1247875 AI1151335 (see all 9) |
About this table Species with no ortholog for PYGM
ENSEMBL Gene Tree for PYGM (if available) |
Paralogs
for PYGM gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for PYGM gene
- PYGL2 PYGB2
PYGM for paralogs About GeneDecksing
|
Genomic Variants
for PYGM gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 11 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for PYGM (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PYGM
3 CNVs: 4753 53146 9667 | | QIAGEN SeqTarget long-range PCR primers for resequencing PYGM |
|
Disorders & Mutations
for PYGM gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PYGM for disorders About GeneDecksing
OMIM: 608455 disorders: 232600 UniProtKB/Swiss-Prot: PYGM_HUMAN, P11217
Defects in PYGM are the cause of glycogen storage disease type 5 (GSD5) [MIM:232600]; also known as McArdledisease. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscleweakness and recurrent myoglobinuria
10/23 Novoseek disease relationships for PYGM gene (see all 23)
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mcardles disease |
99.1 |
273 |
9506549 (5), 15045049 (5), 16924035 (4), 8845714 (4) (see all 99) |
| phosphofructokinase deficiency |
88.3 |
10 |
7998768 (2), 10809925 (1), 1834009 (1), 15938748 (1) (see all 6) |
| myoglobinuria, recurrent |
83.7 |
3 |
12666117 (1), 8316268 (1), 8845714 (1) |
| myopathy |
80.5 |
16 |
8467839 (1), 9470186 (1), 10658172 (1), 15626311 (1) (see all 16) |
| glycogen storage disease |
77.9 |
8 |
12522938 (1), 15626311 (1), 17876739 (1), 9847997 (1) (see all 8) |
| multiple endocrine neoplasia type 1 |
67.3 |
5 |
9272177 (1), 9341881 (1), 7906100 (1), 9150722 (1) |
| rhabdomyolysis |
66.8 |
2 |
19240776 (1), 16718692 (1) |
| enzyme deficiency |
59.3 |
1 |
9847997 (1) |
| mitochondrial myopathies |
58.8 |
2 |
9541495 (1), 17143893 (1) |
| cytochrome c oxidase deficiency |
50.8 |
1 |
7998768 (1) |
About this table
GeneTests: PYGM
Glycogen Storage Disease Type V
Human Gene Mutation Database (HGMD): PYGM
Genetic Association Database (GAD): PYGM
Human Genome Epidemiology (HuGE) Navigator: PYGM (2 documents)
Export disorders and mutations for PYGM gene to outside databases
|
Medical News
for PYGM gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for PYGM gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/203 PubMed articles for PYGM gene, integrated from 7 sources (see all 203):
(articles sorted by number of sources associating them with PYGM)- Mutation analysis in myophosphorylase deficiency (McArdle's disease). (PubMed id 9506549)1, 2, 7 Vorgerd M....Kilimann M.W. (1998)
- A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. (PubMed id 10590419)1, 2, 7 Rubio J.C....Arenas J. (2000)
- Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). (PubMed id 8316268)1, 2, 7 Tsujino S.... Dimauro S. (1993)
- Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. (PubMed id 11706962)1, 2, 7 Martin M.A.... Arenas J. (2001)
- The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). (PubMed id 7603523)1, 2, 7 Tsujino S.... DiMauro S. (1995)
- Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). (PubMed id 8535454)1, 2, 7 Tsujino S....Dimauro S. (1995)
- Global phosphoproteome of HT-29 human colon adenocarcinoma cells. (PubMed id 16083285)1, 2 Kim J.-E.... White F.M. (2005)
- 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)
- Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. (PubMed id 12031624)1, 2 Bruno C.... Santoro L. (2002)
- A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. (PubMed id 10899452)1, 2 Martin M.A.... Arenas J. (2000)
|
External Searches for PYGM gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PYGM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PYGM gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PYGM gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGM |
|
| | |
About This Section
| Patent Information for PYGM gene:
Search GeneIP for patents involving PYGM
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PYGM gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for PYGM |
| |  |  |  |  | | | | | | Recombinant Protein for PYGM |
|
 | | | ELISAs and CLIAs for PYGM |
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