Official symbol | PHKA1 |
Gene id | 5255 |
Organism | Homo sapiens |
Official full symbol | phosphorylase kinase regulatory subunit alpha 1 |
Gene type | protein-coding |
Also known as | PHKA |
Summary | 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. |
Genomic regions | Chromosome X |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PHKA1-203 | ENST00000373542.9 | 6286 | 1223aa | Protein coding | CCDS14421 | P46020-1 | NM_002637.4 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
PHKA1-201 | ENST00000339490.7 | 6121 | 1210aa | Protein coding | CCDS48137 | P46020-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
PHKA1-205 | ENST00000541944.5 | 5944 | 1151aa | Protein coding | CCDS55453 | P46020-3 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
PHKA1-204 | ENST00000373545.7 | 6173 | 1181aa | Protein coding | - | A6NIT2 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
PHKA1-202 | ENST00000373539.3 | 4476 | 1240aa | Protein coding | - | A6NMN0 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
Target Gene | PHKA1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PHKA1 had been KO in hek293t cell line. |
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