Property Summary

NCBI Gene PubMed Count 16
PubMed Score 14.30
PubTator Score 11.82

Knowledge Summary

Patent (936)

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma -4.000 1.9e-09
osteosarcoma -1.037 2.6e-02
group 4 medulloblastoma -2.000 4.1e-06
Duchenne muscular dystrophy -1.230 2.0e-05
non-small cell lung cancer 1.199 5.8e-17
lung cancer 1.500 6.1e-03
cystic fibrosis -1.300 1.6e-04
subependymal giant cell astrocytoma 2.204 2.9e-03
lung carcinoma 1.400 4.9e-18
invasive ductal carcinoma 1.400 2.3e-03

 OMIM Phenotype (1)

Protein-protein Interaction (4)

Gene RIF (4)

PMID Text
22238410 muscle PHKA deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle
18401027 X-linked PHK deficiency causes a mild metabolic myopathy with blunted muscle glycogen breakdown and impaired lactate production during dynamic exercise, which impairs oxidative capacity only marginally
12876330 alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity
1872871 The alpha subunit of phosphorylase kinase is preferentially cleaved at arg748-val749 by HIV-1 protease

AA Sequence

MRSRSNSGVRLDGYARLVQQTILCHQNPVTGLLPASYDQKDAWVRDNVYSILAVWGLGLAYRKNADRDED      1 - 70
KAKAYELEQSVVKLMRGLLHCMIRQVDKVESFKYSQSTKDSLHAKYNTKTCATVVGDDQWGHLQLDATSV     71 - 140
YLLFLAQMTASGLHIIHSLDEVNFIQNLVFYIEAAYKTADFGIWERGDKTNQGISELNASSVGMAKAALE    141 - 210
ALDELDLFGVKGGPQSVIHVLADEVQHCQSILNSLLPRASTSKEVDASLLSVVSFPAFAVEDSQLVELTK    211 - 280
QEIITKLQGRYGCCRFLRDGYKTPKEDPNRLYYEPAELKLFENIECEWPLFWTYFILDGVFSGNAEQVQE    281 - 350
YKEALEAVLIKGKNGVPLLPELYSVPPDRVDEEYQNPHTVDRVPMGKLPHMWGQSLYILGSLMAEGFLAP    351 - 420
GEIDPLNRRFSTVPKPDVVVQVSILAETEEIKTILKDKGIYVETIAEVYPIRVQPARILSHIYSSLGCNN    421 - 490
RMKLSGRPYRHMGVLGTSKLYDIRKTIFTFTPQFIDQQQFYLALDNKMIVEMLRTDLSYLCSRWRMTGQP    491 - 560
TITFPISHSMLDEDGTSLNSSILAALRKMQDGYFGGARVQTGKLSEFLTTSCCTHLSFMDPGPEGKLYSE    561 - 630
DYDDNYDYLESGNWMNDYDSTSHARCGDEVARYLDHLLAHTAPHPKLAPTSQKGGLDRFQAAVQTTCDLM    631 - 700
SLVTKAKELHVQNVHMYLPTKLFQASRPSFNLLDSPHPRQENQVPSVRVEIHLPRDQSGEVDFKALVLQL    701 - 770
KETSSLQEQADILYMLYTMKGPDWNTELYNERSATVRELLTELYGKVGEIRHWGLIRYISGILRKKVEAL    771 - 840
DEACTDLLSHQKHLTVGLPPEPREKTISAPLPYEALTQLIDEASEGDMSISILTQEIMVYLAMYMRTQPG    841 - 910
LFAEMFRLRIGLIIQVMATELAHSLRCSAEEATEGLMNLSPSAMKNLLHHILSGKEFGVERSVRPTDSNV    911 - 980
SPAISIHEIGAVGATKTERTGIMQLKSEIKQVEFRRLSISAESQSPGTSMTPSSGSFPSAYDQQSSKDSR    981 - 1050
QGQWQRRRRLDGALNRVPVGFYQKVWKVLQKCHGLSVEGFVLPSSTTREMTPGEIKFSVHVESVLNRVPQ   1051 - 1120
PEYRQLLVEAILVLTMLADIEIHSIGSIIAVEKIVHIANDLFLQEQKTLGADDTMLAKDPASGICTLLYD   1121 - 1190
SAPSGRFGTMTYLSKAAATYVQEFLPHSICAMQ                                        1191 - 1223
//

Text Mined References (21)

PMID Year Title
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22238410 2012 Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
21269460 2011 Initial characterization of the human central proteome.
20080404 2010 Muscle phosphorylase b kinase deficiency revisited.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18401027 2008 Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12876330 2003 Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
12825073 2003 Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10487978 1999 Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.
8226841 1993 The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.
7874115 1994 Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
7705849 1995 Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
2757032 1989 Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
2108025 1990 Localization of phosphoserine residues in the alpha subunit of rabbit skeletal muscle phosphorylase kinase.