Property Summary

NCBI Gene PubMed Count 94
PubMed Score 236.53
PubTator Score 137.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
juvenile dermatomyositis 1189 4.46884084227321E-22
lung carcinoma 2844 7.6743744641648E-18
astrocytoma 1493 2.43424585571037E-14
posterior fossa group A ependymoma 1511 5.33408879607798E-13
pilocytic astrocytoma 3086 8.99836773376359E-13
Duchenne muscular dystrophy 602 2.57093408987987E-10
oligodendroglioma 2849 8.74154966044913E-10
malignant mesothelioma 3163 5.3924759259399E-8
pediatric high grade glioma 2712 9.54930134543898E-7
lung cancer 4473 8.73105353171626E-6
ovarian cancer 8492 2.03943018747624E-4
glioblastoma 5572 3.79844091546327E-4
pancreatic cancer 2300 0.00115727711300031
active Crohn's disease 918 0.00399726021050699
primary Sjogren syndrome 789 0.00533468342060269
interstitial cystitis 2299 0.00602358359140031
osteosarcoma 7933 0.00741785525130759
dermatomyositis 967 0.00884109720308799
limb girdle muscular dystrophy 2I 56 0.0100240622961079
Waldenstrons macroglobulinemia 765 0.0129393351887783
esophageal adenocarcinoma 737 0.018017719506268
chronic kidney disease 90 0.018391824385903
subependymal giant cell astrocytoma 2287 0.0230759078421346
acute myeloid leukemia 785 0.0453878851086843
Disease Target Count Z-score Confidence
JMP syndrome 2 4.451 2.2
Lipodystrophy 32 3.87 1.9
Cancer 2346 3.432 1.7
Panniculitis 5 3.371 1.7

Expression

  Differential Expression (25)

Synonym

Accession P28062 B0UZC0 Q29824 Q5JNW6 Q5QNR8 Q96J48
Symbols JMP
ALDD
LMP7
NKJO
D6S216
PSMB5i
RING10
D6S216E

Gene

  Ortholog (8)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

Gene RIF (90)

PMID Text
27156327 demonstrated that patients with the LMP-7 CA/AA genotypes were more likely to have advanced fibrosis scores than those bearing the CC genotype
27100179 Proteasome beta5i Subunit Deficiency Affects Opsonin Synthesis and Aggravates Pneumococcal Pneumonia.
25889472 lupus nephritis showed up-regulation of the immunoproteasome subunit LMP7 in tubular epithelial cells associated with type I interferon signature.
25098831 Comparison with reference profiles of sorted immune cells and healthy muscle confirmed upregulation of PSMB8 and -9 in myositis biopsies beyond infiltration related changes.
23283737 The LMP7 gene promoter methylation and protein downregulation were correlated at high extent in Kazakh's ESCC patients, and may explain the epigenetic regulation on gene expression.
23018640 Data indicate that treatment-emergent resistance to single-agent bortezomib was independent of variants in the proteasome genes PSMB1, PSMB5, PSMB6, PSMB8, PSMB9, and PSMB10.
22925930 The MAGE-C(2336-344) antigenic peptide is produced by the immunoproteasome and intermediate proteasome beta1i-beta5i, but not by the standard proteasome nor intermediate proteasome beta5i.
22037870 high risk of colon cancer was associated with LMP7-K/Q genotype and low risk with LMP7-Q/Q genotype; results suggest the presence of LMP7-K can reduce formation of immunoproteasomes and thus peptide processing, followed by reduced peptide-HLA presentation, a crucial factor in the immune response against cancer
21953331 CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome in adults.
21881205 found a homozygous missense mutation (G197V) in immunoproteasome subunit, beta type 8 (PSMB8), which encodes one of the beta subunits induced by IFN-gamma in patients from 2 consanguineous families with lipodystrophy
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AA Sequence

MALLDVCGAPRGQRPESALPVAGSGRRSDPGHYSFSMRSPELALPRGMQPTEFFQSLGGDGERNVQIEMA      1 - 70
HGTTTLAFKFQHGVIAAVDSRASAGSYISALRVNKVIEINPYLLGTMSGCAADCQYWERLLAKECRLYYL     71 - 140
RNGERISVSAASKLLSNMMCQYRGMGLSMGSMICGWDKKGPGLYYVDEHGTRLSGNMFSTGSGNTYAYGV    141 - 210
MDSGYRPNLSPEEAYDLGRRAIAYATHRDSYSGGVVNMYHMKEDGWVKVESTDVSDLLHQYREANQ        211 - 276
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Text Mined References (106)

PMID Year Title
27156327 2016 Low Molecular Mass Polypeptide 7 Single Nucleotide Polymorphism is Associated with the Progression of Liver Fibrosis in Patients Infected with Hepatitis C Virus Genotype 4.
27100179 2016 Proteasome ?5i Subunit Deficiency Affects Opsonin Synthesis and Aggravates Pneumococcal Pneumonia.
26567544 2016 CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
26524591 2015 Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25889472 2015 Local synthesis of interferon-alpha in lupus nephritis is associated with type I interferons signature and LMP7 induction in renal tubular epithelial cells.
25098831 2014 Upregulation of immunoproteasome subunits in myositis indicates active inflammation with involvement of antigen presenting cells, CD8 T-cells and IFN?.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23283737 2013 LMP gene promoter hypermethylation is a mechanism for its down regulation in Kazak's esophageal squamous cell carcinomas.
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