Property Summary

NCBI Gene PubMed Count 11
PubMed Score 35.68
PubTator Score 14.55

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
Multiple myeloma 1.399 0.001
astrocytic glioma -1.700 0.011
oligodendroglioma -1.300 0.037
non-small cell lung cancer 1.018 0.000
lung cancer 1.700 0.000
adult high grade glioma -1.100 0.001
lung adenocarcinoma 1.251 0.000
Pick disease -1.400 0.000
ovarian cancer 2.200 0.000

Synonym

Accession O75431 A8JZZ4 Q53S50 Q53SQ2 Q5M7Z6 Q8IZ68
Symbols

Gene

Gene RIF (4)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17624330 mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import
17510655 The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved.

AA Sequence

MSLVAEAFVSQIAAAEPWPENATLYQQLKGEQILLSDNAASLAVQAFLQMCNLPIKVVCRANAEYMSPSG      1 - 70
KVPFIHVGNQVVSELGPIVQFVKAKGHSLSDGLEEVQKAEMKAYMELVNNMLLTAELYLQWCDEATVGEI     71 - 140
THARYGSPYPWPLNHILAYQKQWEVKRKMKAIGWGKKTLDQVLEDVDQCCQALSQRLGTQPYFFNKQPTE    141 - 210
LDALVFGHLYTILTTQLTNDELSEKVKNYSNLLAFCRRIEQHYFEDRGKGRLS                     211 - 263
//

Text Mined References (15)

PMID Year Title
25997101 2015 QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
22114354 2012 MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17624330 2007 The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
17510655 2007 Conserved roles of Sam50 and metaxins in VDAC biogenesis.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
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