InnateDB Protein
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IDBP-6393.6
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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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PYGL
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Protein Name
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phosphorylase, glycogen, liver
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Synonyms
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GSD6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000216392
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InnateDB Gene
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IDBG-6391 (PYGL)
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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 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. {ECO:0000269PubMed:9529348}. 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 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
33
[view]
|
Protein-Protein |
32
[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 |
1 [view]
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|
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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 |
P06737
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PhosphoSite |
PhosphoSite-P06737
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
5836
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UniGene |
Hs.282417
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RefSeq |
NP_002854
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HUGO |
HGNC:9725
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OMIM |
613741
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CCDS |
CCDS32080
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HPRD |
01987
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IMGT |
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EMBL |
AF046785
AF046787
AF046788
AF046789
AF046790
AF046791
AF046792
AF046793
AF046794
AF046795
AF046796
AF046797
AF046798
AF066858
AK300580
AL358334
BC009895
BC082229
BC095850
BC110791
CH471078
M14636
M36807
Y15233
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GenPept |
AAA35906
AAA52577
AAC17450
AAC18079
AAC23504
AAH09895
AAH82229
AAH95850
AAI10792
BAG62279
CAA75517
EAW65685
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