Property Summary

NCBI Gene PubMed Count 20
Grant Count 8
R01 Count 5
Funding $686,253.66
PubMed Score 85.02
PubTator Score 36.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
psoriasis 2.300 0.000
cystic fibrosis 1.006 0.000
intraductal papillary-mucinous carcinoma... 1.500 0.000
intraductal papillary-mucinous neoplasm ... 1.900 0.002
colon cancer -1.100 0.002
ulcerative colitis -1.400 0.000
ovarian cancer 1.400 0.000
pituitary cancer -1.100 0.000

Gene RIF (11)

PMID Text
25198162 ETHE1 R163W/R163Q mutations are associated with Ethylmalonic encephalopathy.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ethylmalonic encephalopathy 1 (ETHE1) expression by HIV-1 Vpr in Vpr transduced macrophages
23144459 T152I mutation of ETHE1 results in a 3-fold lower activity.
20978941 Case Report: metabolic disturbances in 15-month-old male presenting with typical ethylmalonic encephalopathy associated with a homozygous ETHE1 mutation.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19136963 ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy.
18593870 14 patients with EE were investigated for mutations in the ETHE1 gene. Of the 14 patients, 5 were found to carry novel mutations.
18187620 Knockdown of ethylmalonic encephalopathy 1 (ETHE1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
16929096 structural comparison of human ETHE1 and At1g53580 from Arabidopsis thaliana
16183799 Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.
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AA Sequence

MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGL      1 - 70
RLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCV     71 - 140
TFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERT    141 - 210
LNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA                              211 - 254
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Text Mined References (24)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25198162 2014 Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23144459 2012 Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.
21269460 2011 Initial characterization of the human central proteome.
20978941 2010 Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19136963 2009 Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
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