Property Summary

NCBI Gene PubMed Count 33
PubMed Score 25.36
PubTator Score 21.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
ependymoma 2514 4.97129052500087E-10
osteosarcoma 7933 1.00199603372908E-6
atypical teratoid / rhabdoid tumor 4369 1.01877357884706E-5
ovarian cancer 8492 1.73192717043007E-5
glioblastoma 5572 1.43691265828889E-4
medulloblastoma, large-cell 6234 1.92414391251494E-4
medulloblastoma 1524 4.593565421316E-4
primitive neuroectodermal tumor 3031 8.69240792896848E-4
cystic fibrosis 1670 0.00119735332473795
Parkinson's disease 364 0.00157448491253947
lung cancer 4473 0.0056744242687039
Rheumatoid Arthritis 1171 0.00921266144132312
aldosterone-producing adenoma 664 0.00962091692188409
limb girdle muscular dystrophy 2A 156 0.0106812248672347
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0112221585752632
ulcerative colitis 2087 0.0115525335828807
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0202501497280895
adult high grade glioma 2148 0.020561209987068
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0385197364435539
Duchenne muscular dystrophy 602 0.0419179208879719
astrocytic glioma 2241 0.0453694854115456
Disease Target Count Z-score Confidence
Leigh disease 81 4.449 2.2

Expression

Synonym

Accession P28331 B4DIN9 B4DJA0 B4DPG1 B4DUC1 E7ENF3 Q53TR8 Q8N1C4 Q8TCC9
Symbols CI-75k
CI-75Kd
PRO1304

Gene

PANTHER Protein Class (2)

  Ortholog (16)

Gene RIF (19)

PMID Text
26235939 Loss of FOXRED1, coupled with protein, choline and/or folate-deficient diets results in the depletion of glutathione, the dysregulation of nitric oxide metabolism and the peroxynitrite-mediated inactivation of complex I.
26053550 Results found nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction.
25615419 The presented clinical courses of NDUFV1 and NDUFS1 mutation-based complex I deficiencies are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum.
25354934 NDUFS1 may confer susceptibility to schizophrenia in male subjects, acting as a causative factor for the severity of negative symptoms in schizophrenia.
24952175 Some mutations in NDUFS1 cause a milder phenotype with a more benign course despite the initial decompensation phase. Homozygosity for the c.755A > G missense mutation may correlate with the milder clinical picture in the patient.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
21540367 The peripheral leukocyte oxidative phosphorylation enzyme activity assay was found to be a reliable method for the diagnosis of mitochondrial diseases.
21203893 homozygous c.1783A>G (p.Thr595Ala) mutation in NDUFS1 in two inbred siblings with isolated complex I deficiency associated to a progressive cavitating leukoencephalopathy
21183487 data suggest that gamma oscillations are especially energy demanding and require both high complex I expression and strong functional performance of mitochondria.
20877624 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQIPRFCYHERLS      1 - 70
VAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQ     71 - 140
DQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYI    141 - 210
EKMFMSELSGNIIDICPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHED    211 - 280
INEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEA    281 - 350
LVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK    351 - 420
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAIL    421 - 490
AAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDL    491 - 560
PKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTEGRAQQTKVAVTPPGLAREDWKIIRALSEIA    561 - 630
GMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSI    631 - 700
SRASQTMAKCVKAVTEGAQAVEEPSIC                                               701 - 727
//

Text Mined References (37)

PMID Year Title
26235939 2015 Glutathione metabolism links FOXRED1 to NADH:ubiquinone oxidoreductase (complex I) deficiency: A hypothesis.
26053550 2015 Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25615419 2015 Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
25354934 2015 Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han Chinese.
24952175 2014 A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
21540367 2011 Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders.
More...