Property Summary

NCBI Gene PubMed Count 43
Grant Count 21
R01 Count 17
Funding $4,921,649.5
PubMed Score 782.84
PubTator Score 84.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis -2.000 0.000
astrocytoma -1.300 0.008
pancreatic ductal adenocarcinoma liver m... -1.444 0.013
Polycystic Ovary Syndrome 1.035 0.008
ovarian cancer -1.600 0.000

Gene RIF (20)

PMID Text
24020637 The c.462delA deletion led to a complete lack of NDUFS4 peptide in isolated mitochondria, and this deficiency caused an inefficient mitochondrial complex I assembly and Leigh syndrome symptoms.
23378164 Mutations in the NDUFS4 gene and its subunits are associated with the mitochondrial complex I deficiency. (Review)
22407105 Elevated expression of CO I and ND4 were associated with gastric tumorigenesis and tumor dedifferentiation
22198267 In fibroblast cultures, protein kinase A-mediated phosphorylation of the NDUFS4 subunit of complex I rescues the activity of the oxidatively damaged complex.
21945319 Studies indicate that that the functional capacity of complex I depends on phosphorylation and import of subunit NDUFS4 protein.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19364667 NDUFS4 presents a hotspot of mutations in the genetic apparatus of oxidative phosphorylation and the correct assembly of the subunit it encodes is essential for completion of the assembly of complex I.
19343046 Observational study of gene-disease association. (HuGE Navigator)
19107570 case Report: A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
19064571 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEE      1 - 70
HIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEK     71 - 140
NGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK                                       141 - 175
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Text Mined References (44)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24020637 2014 Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
23378164 2013 Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
22407105 2012 Altered expression of mitochondrial cytochrome c oxidase I and NADH dehydrogenase 4 transcripts associated with gastric tumorigenesis and tumor dedifferentiation.
22198267 2012 Activation of the cAMP cascade in human fibroblast cultures rescues the activity of oxidatively damaged complex I.
21945319 2012 Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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