Property Summary

NCBI Gene PubMed Count 33
PubMed Score 23.67
PubTator Score 29.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.499 6.3e-04
psoriasis 1.200 6.0e-04
osteosarcoma -1.058 2.1e-04
ovarian cancer 1.800 2.6e-05

Gene RIF (13)

PMID Text
26345448 we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I
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.
25432440 small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1.
23562761 The results affirm that NDUFV1 mutations are causative of the phenotype in two siblings affected by a diffuse leukodystrophy.
23266820 study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were homozygous for previously undescribed R386C mutation in NDUFV1
21696386 observed 2 consanguinous siblings with early-onset encephalopathy, medulla, brainstem and mesencephalon lesions and death before 8 months of age, caused by a complex I deficiency; identified a missense mutation in the NDUFV1 gene; the mutation, p.Arg386His, affects a highly conserved residue
20930427 significant negative-correlation between left ventricular end-diastolic dimension and NDUFV1 production in dilated cardiomyopathy
20877624 Observational study of gene-disease association. (HuGE Navigator)
20153825 Mutations in the NDUFV1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders.
19343046 Observational study of gene-disease association. (HuGE Navigator)
18977241 Observational study of gene-disease association. (HuGE Navigator)
17786189 Sp1 was abnormally expressed in schizophrenia and its mRNA alteration pattern paralleled that of NDUFV1 and NDUFV2 in schizophrenic patients.
17601350 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILL      1 - 70
KGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEGEPGTCKDREILRHDPHKLLE     71 - 140
GCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEET    141 - 210
ALIESIEGKQGKPRLKPPFPADVGVFGCPTTVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISG    211 - 280
HVNHPCTVEEEMSVPLKELIEKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLG    281 - 350
TAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIE    351 - 420
GHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS                              421 - 464
//

Text Mined References (35)

PMID Year Title
26345448 2015 Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
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.
25432440 2015 Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23562761 2013 A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
23266820 2013 Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
21696386 2012 A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
21269460 2011 Initial characterization of the human central proteome.
20930427 2010 A NADH dehydrogenase ubiquinone flavoprotein is decreased in patients with dilated cardiomyopathy.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20153825 2010 Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18977241 2008 Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
17786189 2007 Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.
17601350 2007 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11349233 2001 Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
11337467 2001 Identification and characterization of the potential promoter regions of 1031 kinds of human genes.
11138011 2001 Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
11112787 2001 Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
10931946 2000 Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.
10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
9892733 1999 The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I.
9878551 1998 cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
9571201 1998 Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?
8288251 1993 Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
1478657 1992 The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.