Property Summary

NCBI Gene PubMed Count 63
Grant Count 1
Funding $56,867.25
PubMed Score 154.43
PubTator Score 299.98

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P11217 A0AVK1 A6NDY6
Symbols

Gene

PANTHER Protein Class (2)

 Grant Application (1)

PDB

1Z8D  

 GWAS Trait (1)

Gene RIF (30)

PMID Text
25914343 update of the reported mutations and polymorphisms in the PYGM gene [review]
25694429 biological significance of this PKCtheta;/alphaPIX/Rac 1 GTPase/PYGM signaling pathway seems to be the control of different cellular responses such as migration and proliferation
25240406 study found that T lymphocytes expressed myophosphorylase in healthy donors, but expression was significantly lower in McArdle patients (p<0.001); PYGM mRNA levels were also lower in white blood cells from McArdle patients
23653251 5 different PYGM mutations were found in 8 Brazilian families: 4 previously described (p.R50X, p.T692kfs30, p.K609K, and p.G455R), and one, pI513V, a novel heterozygous mutation.
22608882 a novel mutation, in the PYGM gene c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region
22337875 a new role for Rac1 in cell signaling, showing that this GTPase triggers T-cell proliferation upon IL-2 stimulation by associating with PYGM and modulating its enzymatic activity.
21880526 The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease
21802952 No genotype-phenotype correlation is evident and that no gender effect is related to the phenotype of McArdle's disease (PYGM gene) in a cohort of 123 European McArdle's disease patients.
21658951 This study demonistrated that PYGM mutation in McArdle disease.
20957198 indicate that in both patients' and controls' cell cultures, unlike in skeletal muscle tissue, most of the protein and GP activities result from the expression of brain GP and liver GP genes
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AA Sequence

MSRPLSDQEKRKQISVRGLAGVENVTELKKNFNRHLHFTLVKDRNVATPRDYYFALAHTVRDHLVGRWIR      1 - 70
TQQHYYEKDPKRIYYLSLEFYMGRTLQNTMVNLALENACDEATYQLGLDMEELEEIEEDAGLGNGGLGRL     71 - 140
AACFLDSMATLGLAAYGYGIRYEFGIFNQKISGGWQMEEADDWLRYGNPWEKARPEFTLPVHFYGHVEHT    141 - 210
SQGAKWVDTQVVLAMPYDTPVPGYRNNVVNTMRLWSAKAPNDFNLKDFNVGGYIQAVLDRNLAENISRVL    211 - 280
YPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCRDPVRTNFDAFPDKVAIQLNDTHPSLAIPEL    281 - 350
MRILVDLERMDWDKAWDVTVRTCAYTNHTVLPEALERWPVHLLETLLPRHLQIIYEINQRFLNRVAAAFP    351 - 420
GDVDRLRRMSLVEEGAVKRINMAHLCIAGSHAVNGVARIHSEILKKTIFKDFYELEPHKFQNKTNGITPR    421 - 490
RWLVLCNPGLAEVIAERIGEDFISDLDQLRKLLSFVDDEAFIRDVAKVKQENKLKFAAYLEREYKVHINP    491 - 560
NSLFDIQVKRIHEYKRQLLNCLHVITLYNRIKREPNKFFVPRTVMIGGKAAPGYHMAKMIIRLVTAIGDV    561 - 630
VNHDPAVGDRLRVIFLENYRVSLAEKVIPAADLSEQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEM    631 - 700
AEEAGEENFFIFGMRVEDVDKLDQRGYNAQEYYDRIPELRQVIEQLSSGFFSPKQPDLFKDIVNMLMHHD    701 - 770
RFKVFADYEDYIKCQEKVSALYKNPREWTRMVIRNIATSGKFSSDRTIAQYAREIWGVEPSRQRLPAPDE    771 - 840
AI                                                                        841 - 842
//

Text Mined References (63)

PMID Year Title
25914343 2015 McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
25694429 2015 Guanine nucleotide exchange factor ?PIX leads to activation of the Rac 1 GTPase/glycogen phosphorylase pathway in interleukin (IL)-2-stimulated T cells.
25416956 2014 A proteome-scale map of the human interactome network.
25240406 2014 PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
23653251 2013 Clinical and molecular characterization of McArdle's disease in Brazilian patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
22608882 2012 McArdle disease: a novel mutation in Jewish families from the Caucasus region.
22337875 2012 Rac1 protein regulates glycogen phosphorylase activation and controls interleukin (IL)-2-dependent T cell proliferation.
21880526 2011 Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
21802952 2011 Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
More...