Property Summary

NCBI Gene PubMed Count 39
PubMed Score 478.53
PubTator Score 415.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.254 0.001
Multiple myeloma 1.161 0.005
malignant mesothelioma -2.400 0.000
cystic fibrosis 1.102 0.000
medulloblastoma, large-cell -1.200 0.005
pancreatic ductal adenocarcinoma liver m... -2.871 0.001
breast carcinoma -1.400 0.001
Breast cancer 2.600 0.027
group 4 medulloblastoma -1.500 0.000
ductal carcinoma in situ -1.200 0.006
invasive ductal carcinoma -1.400 0.031
ovarian cancer -1.700 0.002

Synonym

Gene

PANTHER Protein Class (2)

PDB

5EPC   5F9C   5HSH  

 GWAS Trait (1)

Gene RIF (19)

PMID Text
26972339 analysis of the structural basis of PGM1 enzyme dysfunction in PGM1 deficiency
26768186 Homozygous mutation in the PGM1 gene is associated with PGM1 deficiency.
25288802 both PGM1 protein misfolding and catalytic impairment may play a role in PGM1 deficiency
24952355 PGM1 is required for sustained cell growth during nutritional changes
24499211 Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20378605 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19377068 ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress. The impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of dilated cardiomyopathy.
18854154 Knockdown of phosphoglucomutase 1 (PGM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
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AA Sequence

MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEA      1 - 70
IQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAP     71 - 140
EAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKE    141 - 210
LLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGE    211 - 280
HDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKI    281 - 350
ALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKY    351 - 420
GRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGL    421 - 490
RLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTV    491 - 560
IT                                                                        561 - 562
//

Text Mined References (53)

PMID Year Title
26972339 2016 Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
26768186 2015 Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
25288802 2014 Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
24952355 2014 Phosphoglucomutase1 is necessary for sustained cell growth under repetitive glucose depletion.
24499211 2014 Multiple phenotypes in phosphoglucomutase 1 deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22976764 2013 A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
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