| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5255 |
Name | PHKA1 |
Synonym | PHKA;phosphorylase kinase, alpha 1 (muscle);PHKA1;phosphorylase kinase, alpha 1 (muscle) |
Definition | phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform|phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform|phosphorylase kinase alpha M subunit|phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis |
Position | Xq12-q13 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Insulin signaling pathway;KEGG PATHWAY;hsa04910 |
Pathway | Metabolism of carbohydrates;Reactome;REACT:474 |
Pathway | Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway;PANTHER;P00026 |
Pathway | Calcium signaling pathway;KEGG PATHWAY;hsa04020 |
Disease | Inherited disorders of carbohydrate metabolism;KEGG DISEASE |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Glycogen storage disease (GSD);KEGG DISEASE;H00069 |
Disease | Muscle glycogenosis;OMIM |
External Links | |
Links to Entrez Gene | 5255 |
Links to all GeneRIF Items | 5255 |
Links to iHOP | 5255 |
Sequence Information | |
Nucleotide Sequence | >5255 : length: 3633 atgaggagccggagtaactccggggtccggctggacggctacgctcgactggtgcaacag accatcctgtgccatcagaatccagtgactggcttgcttccagccagctatgatcagaaa gatgcttgggtccgagataatgtgtacagcatcttggctgtgtggggtttgggcctggcc tatcggaagaatgcagaccgggatgaggataaggcaaaggcctatgaattggagcagagt gtagtgaagctgatgagaggactactgcactgcatgatcagacaggtggataaagtagaa tccttcaaatatagtcagagtactaaggatagcctccatgcaaagtacaacaccaaaacc tgtgccactgtagtgggtgatgatcaatggggacacctgcagttggatgctacctctgtg tacctgctcttcttagcccaaatgactgcctcaggactccatatcatccacagcctagat gaagtcaatttcatacagaaccttgtgttttacattgaagctgcatataaaactgctgac ttcgggatatgggaacgtggagacaagaccaaccaagggatctcagagttgaatgccagt tcagttggaatggcaaaggcagccctggaagcattagatgaactggatctgtttggtgtg aaaggtgggcctcaatcagttatccatgtcctggctgatgaagtacagcactgccagtct atcctaaattcactactgccccgtgcttcaacatcaaaagaggttgatgctagtctactc tcagtggtttccttccctgcctttgcagtagaggatagccagttggtggagctcacaaaa caggaaatcatcaccaagcttcagggtcgttatggttgctgtcgctttctacgagatgga tataaaactcctaaagaggatcccaatcgtctgtactatgaaccagctgagctgaagcta tttgaaaacattgagtgtgaatggccattgttctggacatactttattcttgatggggtc ttcagtggcaatgcagaacaggttcaagaatataaagaggctcttgaagcagtcctcatc aagggcaaaaatggagtcccacttctgccagagctgtacagtgttcctcctgacagggtc gatgaagaatatcagaatcctcacactgtggaccgagtccccatggggaaattgcctcac atgtggggtcagtctctatacattttaggaagcttgatggcagagggatttttagcccct ggagaaattgatcccctgaatcgcaggttttctactgtaccgaagcccgatgttgtggtt caagtctccattctagctgaaacagaagaaatcaagaccattttgaaggacaagggaatt tacgtggagaccattgctgaggtataccccatcagagtacaaccagctcgtattctcagc cacatttattccagcctaggatgcaacaatagaatgaaactcagtggacgaccctacaga cacatgggagtgcttggaacttcaaaactctatgacattcggaaaactatctttactttc actccacagtttatagaccagcaacagttctacctggctctggacaacaagatgatagtg gaaatgcttagaacagacctctcctacctctgtagccgctggcggatgacaggccagccc accatcaccttccccatctcacacagcatgcttgatgaagatggaacaagcttgaattca agtatcctggcagcactccgaaaaatgcaagatgggtattttggtggggcaagggttcaa acaggtaaattgtcagagtttttgacaacatcttgttgcacacacttgagcttcatggac cctggacctgagggtaagctgtacagtgaagattatgatgacaactatgattacctggaa tctggcaactggatgaatgattatgattcaaccagtcatgctcgctgtggtgatgaagtt gctcgttatttagatcaccttttggcgcacactgctccccatcctaaactagcccctacc tcacagaagggagggctagatcggttccaagctgctgtgcaaacaacctgcgacttaatg tccttggtgaccaaggccaaggaactgcatgtacagaatgttcacatgtatcttcctacg aagttatttcaggcttcccggccttcattcaacttacttgattcacctcatccccgacag gagaaccaggttccctctgttcgtgtagaaatacatcttcctagagaccagtctggggag gtggactttaaagcactggttttacagttgaaggagacctcaagcttacaggaacaagct gatatcctctatatgctgtatactatgaaaggacctgactggaacactgaattgtataat gaacggagtgctacagtgagagagcttcttaccgagctgtatggcaaagtgggagaaatt cgtcactggggcctgatccgatacatttctgggatcttaaggaagaaagtggaagcactt gatgaggcctgcacagaccttctctcccaccagaaacatttgacagtaggacttcctcca gaacctcgagaaaagactatctctgcacctctgccctatgaggcgctcactcagctgata gatgaagccagtgaaggggatatgagcatttcaatccttacacaggaaataatggtatat ctagccatgtatatgcgaacccagcctggcctctttgctgaaatgtttcgacttcgaatt ggtctgatcatacaagttatggcaacagaactggcccactcccttcgatgctcagctgag gaagccacagagggcctgatgaatctcagtccttcggccatgaagaatctcctgcatcac attctcagcggcaaggagtttggagtggaacgaagcgttcgtcccactgattcaaatgtc agtcctgctatttctatccacgagattggtgctgttggagcaaccaaaacagaacgaact gggatcatgcagttaaaaagtgagataaagcagtcacctggaacctctatgactccaagt agtgggtcctttcctagtgcatatgatcagcagtcatctaaagatagtcgtcaaggtcaa tggcaacgccgaagaaggctggatggggcactgaatagagttccagttggattttatcag aaagtatggaaagttttgcagaagtgtcacggactttctgttgaagggtttgtccttcct tcctctaccactagagagatgactccaggtgagattaaattctctgttcatgtggagtct gtcctgaatcgtgtacctcagccagagtaccgtcagctgctggttgaagccatccttgtc ctcaccatgctggcagatattgaaattcatagcatcggaagcatcattgctgtggaaaaa atagtgcatattgccaatgacttgttccttcaagaacagaaaacccttggcgcagatgat accatgttggcaaaggatcccgcatctggcatctgtactcttctgtatgacagtgcaccc agtggcaggtttggcaccatgacctacctctccaaggcagccgccacctacgtgcaggag ttcctgccccacagcatctgtgccatgcaatga |
Protein Sequence | >5255 : length: 1210 MRSRSNSGVRLDGYARLVQQTILCHQNPVTGLLPASYDQKDAWVRDNVYSILAVWGLGLA YRKNADRDEDKAKAYELEQSVVKLMRGLLHCMIRQVDKVESFKYSQSTKDSLHAKYNTKT CATVVGDDQWGHLQLDATSVYLLFLAQMTASGLHIIHSLDEVNFIQNLVFYIEAAYKTAD FGIWERGDKTNQGISELNASSVGMAKAALEALDELDLFGVKGGPQSVIHVLADEVQHCQS ILNSLLPRASTSKEVDASLLSVVSFPAFAVEDSQLVELTKQEIITKLQGRYGCCRFLRDG YKTPKEDPNRLYYEPAELKLFENIECEWPLFWTYFILDGVFSGNAEQVQEYKEALEAVLI KGKNGVPLLPELYSVPPDRVDEEYQNPHTVDRVPMGKLPHMWGQSLYILGSLMAEGFLAP GEIDPLNRRFSTVPKPDVVVQVSILAETEEIKTILKDKGIYVETIAEVYPIRVQPARILS HIYSSLGCNNRMKLSGRPYRHMGVLGTSKLYDIRKTIFTFTPQFIDQQQFYLALDNKMIV EMLRTDLSYLCSRWRMTGQPTITFPISHSMLDEDGTSLNSSILAALRKMQDGYFGGARVQ TGKLSEFLTTSCCTHLSFMDPGPEGKLYSEDYDDNYDYLESGNWMNDYDSTSHARCGDEV ARYLDHLLAHTAPHPKLAPTSQKGGLDRFQAAVQTTCDLMSLVTKAKELHVQNVHMYLPT KLFQASRPSFNLLDSPHPRQENQVPSVRVEIHLPRDQSGEVDFKALVLQLKETSSLQEQA DILYMLYTMKGPDWNTELYNERSATVRELLTELYGKVGEIRHWGLIRYISGILRKKVEAL DEACTDLLSHQKHLTVGLPPEPREKTISAPLPYEALTQLIDEASEGDMSISILTQEIMVY LAMYMRTQPGLFAEMFRLRIGLIIQVMATELAHSLRCSAEEATEGLMNLSPSAMKNLLHH ILSGKEFGVERSVRPTDSNVSPAISIHEIGAVGATKTERTGIMQLKSEIKQSPGTSMTPS SGSFPSAYDQQSSKDSRQGQWQRRRRLDGALNRVPVGFYQKVWKVLQKCHGLSVEGFVLP SSTTREMTPGEIKFSVHVESVLNRVPQPEYRQLLVEAILVLTMLADIEIHSIGSIIAVEK IVHIANDLFLQEQKTLGADDTMLAKDPASGICTLLYDSAPSGRFGTMTYLSKAAATYVQE FLPHSICAMQ |