Property Summary

NCBI Gene PubMed Count 21
PubMed Score 160.16
PubTator Score 88.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.200 1.8e-06
psoriasis -1.200 1.7e-03
tuberculosis and treatment for 3 months -1.200 1.6e-05
primary pancreatic ductal adenocarcinoma -1.504 2.1e-03
non-small cell lung cancer 1.042 4.0e-15
lung cancer -1.600 9.6e-04
active Crohn's disease 1.452 1.3e-03
diabetes mellitus -1.700 1.7e-02
Breast cancer 2.000 3.1e-02
group 3 medulloblastoma 1.100 1.9e-03
pilocytic astrocytoma 1.400 1.1e-07
ulcerative colitis 1.600 4.3e-07
ovarian cancer 2.500 1.8e-05
pancreatic cancer -1.500 1.5e-03

 OMIM Phenotype (1)

Protein-protein Interaction (2)

Gene RIF (8)

PMID Text
26482871 Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family.
24931394 define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes
24698316 Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype.
24589341 Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20221814 Polymorphic analysis of the human phosphoglucomutase-3 gene.
20221814 Observational study of genotype prevalence. (HuGE Navigator)
12174217 PGM(3) is identical to AGM(1).

AA Sequence

MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEED      1 - 70
NGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSV     71 - 140
IDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKV    141 - 210
DCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDAD    211 - 280
RIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTK    281 - 350
TGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAI    351 - 420
SDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKL    421 - 490
SRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF                      491 - 542
//

Text Mined References (31)

PMID Year Title
26482871 2015 Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
24931394 2014 PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
24698316 2014 Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
24589341 2014 Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21159204 2010 Down-regulation of phosphoglucomutase 3 mediates sulforaphane-induced cell death in LNCaP prostate cancer cells.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20221814 2010 Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12752494 2003 N-acetylglucosamine-phosphate mutase genotype and diabetic microvascular complications.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12174217 2002 Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).
11004509 2000 Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis.
10721701 2000 Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
6461922 1982 Phosphoglucomutase: evidence for a new locus expressed in human milk.
508567 1979 Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer.
468082 Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots.
203189 1977 Isozyme patterns in erythrocytes from human fetuses.