Property Summary

NCBI Gene PubMed Count 15
PubMed Score 15.90
PubTator Score 13.64

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8N183 A8K5I1
Symbols MMTN
B17.2L
mimitin
NDUFA12L

Gene

  Ortholog (1)

Species Source Disease
Macaque OMA EggNOG Inparanoid

Gene RIF (10)

PMID Text
26033570 Mimitin and 14-3-3 protein zeta/delta are potential markers of paclitaxel resistance and prognostic factors in ovarian cancer.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20571988 Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20308990 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19384974 the homozygous substitution in NDUFAF2 is the disease-causing mutation, which results in a complex I deficiency in the fibroblasts
19064571 Observational study of gene-disease association. (HuGE Navigator)
18854154 Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
17383918 B17.2L occurred in a 830 kDa subcomplex specifically in patients with mutations in subunits NDUFV1 and NDUFS4
15774466 the novel gene mimitin is a direct transcriptional target of c-Myc, and is involved in Myc-dependent cell proliferation in esophageal squamous cell carcinoma cells

AA Sequence

MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTE      1 - 70
WEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGK     71 - 140
EEPSVAPSSTGKTFQPGSWMPRDGKSHNQ                                             141 - 169
//

Text Mined References (18)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26033570 2015 Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22587331 2012 Effects of the novel mitochondrial protein mimitin in insulin-secreting cells.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20308990 2011 Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
17383918 2007 Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
15774466 2005 A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.