InnateDB Protein
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IDBP-54719.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PYGM
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Protein Name
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phosphorylase, glycogen, muscle
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000164139
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InnateDB Gene
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IDBG-54713 (PYGM)
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Protein Structure
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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.
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Subcellular Localization |
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Disease Associations |
Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. {ECO:0000269PubMed:10382911, ECO:0000269PubMed:10382912, ECO:0000269PubMed:10417800, ECO:0000269PubMed:10590419, ECO:0000269PubMed:10681080, ECO:0000269PubMed:10714589, ECO:0000269PubMed:10899452, ECO:0000269PubMed:11706962, ECO:0000269PubMed:12031624, ECO:0000269PubMed:7603523, ECO:0000269PubMed:8316268, ECO:0000269PubMed:8535454, ECO:0000269PubMed:9506549}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000811
Glycosyl transferase, family 35
IPR011833
Glycogen/starch/alpha-glucan phosphorylase
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PFAM |
PF00343
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PRINTS |
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PIRSF |
PIRSF000460
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P11217
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PhosphoSite |
PhosphoSite-P11217
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
5837
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UniGene |
Hs.154084
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RefSeq |
NP_005600
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HUGO |
HGNC:9726
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OMIM |
608455
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CCDS |
CCDS8079
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HPRD |
01986
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IMGT |
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EMBL |
AF066859
AK056607
AP001462
BC126392
BC130514
CH471076
M16013
M32579
M32580
M32581
M32582
M32583
M32584
M32585
M32586
M32587
M32588
M32589
M32590
M32591
M32592
M32593
M32594
M32595
M32596
M32597
M32598
U94774
U94775
U94776
U94777
X03031
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GenPept |
AAA36216
AAA60231
AAC17451
AAC52081
AAI26393
AAI30515
BAG51762
CAA26834
EAW74284
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