Property Summary

NCBI Gene PubMed Count 40
Grant Count 17
R01 Count 12
Funding $1,128,246.25
PubMed Score 151.22
PubTator Score 74.13

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.475 0.000
ependymoma 1.300 0.001
atypical teratoid / rhabdoid tumor 1.600 0.000
glioblastoma 1.600 0.007
group 4 medulloblastoma 1.300 0.008
medulloblastoma, large-cell 1.500 0.000
pediatric high grade glioma 1.100 0.019
lung carcinoma 1.300 0.000

Gene RIF (21)

PMID Text
26783077 When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes.
26328495 POMGNT1 Is Glycosylated by Mucin-Type O-Glycans
24733390 Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1).
24731844 study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation
23689641 Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease.
22554691 POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression.
22419172 Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
21727005 This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease.
21684258 these results show that the amino acid sequence affects POMGnT1 activity.
21361872 This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions.
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AA Sequence

MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILDTRRAISEANE      1 - 70
DPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQAT     71 - 140
GHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTW    141 - 210
AFVGRKGGPVFGEKHSKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCS    211 - 280
CKDPTPIEFSPDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVAL    281 - 350
FGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLY    351 - 420
CISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGREC    421 - 490
IIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEVHRLLSEAEVLDHSKN    491 - 560
PCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLMVGVPASP    561 - 630
YSVKKPPSVTPIFLEPPPKEEGAPGAPEQT                                            631 - 660
//

Text Mined References (43)

PMID Year Title
27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
26783077 2016 Generalization of Rare Variant Association Tests for Longitudinal Family Studies.
26328495 2015 POMGNT1 Is Glycosylated by Mucin-Type O-Glycans.
25416956 2014 A proteome-scale map of the human interactome network.
24733390 2014 Golgi phosphoprotein 3 mediates the Golgi localization and function of protein O-linked mannose ?-1,2-N-acetlyglucosaminyltransferase 1.
24731844 2014 Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23689641 2013 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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