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 0.001
psoriasis 1.200 0.001
osteosarcoma -1.058 0.000
ovarian cancer 1.800 0.000

Synonym

Accession P49821 O60924 O60940 Q16104 Q6IBR3 Q96BF8 Q96HS7
Symbols UQOR1
CI-51K
CI51KD

Gene

PANTHER Protein Class (2)

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)
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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.
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