Property Summary

NCBI Gene PubMed Count 11
PubMed Score 35.68
PubTator Score 14.55

Knowledge Summary


No data available



  Differential Expression (9)

Disease log2 FC p
Multiple myeloma 1.399 6.4e-04
astrocytic glioma -1.700 1.1e-02
oligodendroglioma -1.300 3.7e-02
non-small cell lung cancer 1.018 1.9e-22
lung cancer 1.700 3.8e-04
adult high grade glioma -1.100 5.3e-04
lung adenocarcinoma 1.251 3.1e-09
Pick disease -1.400 1.3e-04
ovarian cancer 2.200 7.7e-05

Gene RIF (4)

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


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.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
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.
10381257 1999 Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane.