Property Summary

NCBI Gene PubMed Count 39
PubMed Score 33.82
PubTator Score 38.90

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
psoriasis 1.800 0.001
glioblastoma 1.400 0.001
osteosarcoma 2.730 0.000
posterior fossa group A ependymoma 1.400 0.000
adrenocortical carcinoma -1.013 0.000
pediatric high grade glioma 1.600 0.007
pilocytic astrocytoma 1.300 0.000
sonic hedgehog group medulloblastoma 1.800 0.000
gastric carcinoma 1.800 0.015
ovarian cancer 2.800 0.000

Synonym

Accession Q9Y6C2 A5PL03 H0Y7A0 Q53SY9 Q96G58 Q96IH6 Q9UG76
Symbols EMI
gp115
EMILIN

Gene

PDB

2KA3   2OII  

Gene RIF (17)

PMID Text
26462740 These findings collectively suggest that EMILIN1 may represent a new disease gene associated with an autosomal-dominant connective tissue disorder.
25445627 Data suggested mechanisms for homo- and hetero-typic EMILINs multimers formation: EMILIN1 or EMILIN2 alone can form trimers and multimers in the absence of each other or they can co-polymerize in a head-to-tail fashion to form hetero-typic multimers.
24513040 The present findings highlight the peculiar activity of PMN elastase in disabling EMILIN1 suppressor function.
22814752 Emilin-1 produced by vascular smooth muscle cells acts as a main regulator of resting blood pressure levels by controlling the myogenic response in resistance arteries through TGF-beta.
22639547 There were significant associations of rs2011616 and rs2304682 polymorphisms in the EMILIN1 gene with hypertension among Japanese.
21753788 All three SNPs in introns 1 and 5 (rs2289360, rs2011616 and rs7424556) of EMILIN1 were in strong pair-wise linkage disequilibrium and were significantly associated with hypertension.
20701466 EMILIN-1 may regulate the formation of oxytalan fibers and play a role in their homeostasis.
20186130 rs2289360, rs2011616, and rs2304682 in the human EMILIN1 gene, as well as the haplotype constructed using rs2536512, rs2011616, and rs17881426, are useful genetic markers of essential hypertension in Japanese men.
20186130 Observational study of gene-disease association. (HuGE Navigator)
19922630 Our findings don't support positive association of Emilin1 gene with EH, but the interaction of age and genotype variation of rs3754734 and rs2011616 might increase the risk to hypertension
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AA Sequence

MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWCAYVVTRTVSC      1 - 70
VLEDGVETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRCCQGYGGDDCAESPAPALGPA     71 - 140
SSTPRPLAQPARPNLSGSSAGSPLSGLGGEGPGESEKVQQLEEQVQSLTKELQGLRGVLQGLSGRLAEDV    141 - 210
QRAVETAFNGRQQPADAAARPGVHETLNEIQHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPA    211 - 280
SAPPGPSEELLRQLEQRLQESCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPP    281 - 350
QECCSPELGRRLAELERRLDVVAGSVTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGP    351 - 420
SEEQEESWPGAPGGLSHWLPAARGRLEQLGGLLANVSGELGGRLDLLEEQVAGAMQACGQLCSGAPGEQD    421 - 490
SQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAGEARQATLEGLQEVVGRLQDRVDAQDETAAEFTLRL    491 - 560
NLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVERCSCPLLPPRGPGAGPGVGGPSRGPLDGFS    561 - 630
VFGGSSGSALQALQGELSEVILSFSSLNDSLNELQTTVEGQGADLADLGATKDRIISEINRLQQEATEHA    631 - 700
TESEERFRGLEEGQAQAGQCPSLEGRLGRLEGVCERLDTVAGGLQGLREGLSRHVAGLWAGLRETNTTSQ    701 - 770
MQAALLEKLVGGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSP    771 - 840
GKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYYDPETGVFTAP    841 - 910
LAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAESQPSPGTLGVFSLILPLQAG    911 - 980
DTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA                                      981 - 1016
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Text Mined References (43)

PMID Year Title
26627825 2016 Extracellular Fibrinogen-binding Protein (Efb) from Staphylococcus aureus Inhibits the Formation of Platelet-Leukocyte Complexes.
26462740 2016 Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
25445627 2015 Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.
25416956 2014 A proteome-scale map of the human interactome network.
24513040 2014 Neutrophil elastase-dependent cleavage compromises the tumor suppressor role of EMILIN1.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23658023 2013 Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance.
22814752 2012 Vascular smooth muscle Emilin-1 is a regulator of arteriolar myogenic response and blood pressure.
22639547 2012 Pooled analyses of the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk.
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