Version 5.4
| Mus musculus Gene: Phka1 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-165082.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Phka1 | ||||||||
| Gene Name | phosphorylase kinase alpha 1 | ||||||||
| Synonyms | 5330411D17; 9830108K24Rik; Phka | ||||||||
| Species | Mus musculus | ||||||||
| Ensembl Gene | ENSMUSG00000034055 | ||||||||
| Encoded Proteins |
phosphorylase kinase alpha 1
phosphorylase kinase alpha 1
phosphorylase kinase alpha 1
phosphorylase kinase alpha 1
phosphorylase kinase alpha 1
phosphorylase kinase alpha 1
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| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000067177:
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome X:102513975-102644246 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | D | ||||||||
| Transcripts | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Disease pathway
Glucose metabolism pathway
Metabolism pathway
Glycogen breakdown (glycogenolysis) pathway
Glycogen storage diseases pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
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| KEGG |
Insulin signaling pathway pathway
Calcium signaling pathway pathway
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| INOH | |||||||||
| PID NCI | |||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
Glycogen breakdown (glycogenolysis) pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
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| KEGG |
Insulin signaling pathway pathway
Calcium signaling pathway pathway
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| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | Mm.212889 | ||||||||
| RefSeq | NM_008832 NM_173021 XM_006527896 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS30323 CCDS30324 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| MGI ID | |||||||||
| MGI Symbol | |||||||||
| EMBL | |||||||||
| GenPept | |||||||||
| RNA Seq Atlas | |||||||||