Property Summary

NCBI Gene PubMed Count 26
PubMed Score 13.37
PubTator Score 5.69

Knowledge Summary


No data available


  Disease (2)

Disease Target Count
Substance-Related Disorders 114
Disease Target Count P-value
osteosarcoma 7933 7.2e-04


  Differential Expression (1)

Disease log2 FC p
osteosarcoma 2.010 7.2e-04

Gene RIF (7)

26416881 The findings suggest that Mic19 is a redox-dependent regulator of mitochondrial contact site and crista organizing system complex function.
23019327 both the myristoylation and the CHCH domain are essential for the import and mitochondrial localization of ChChd3. Once imported, ChChd3 binds to Mia40 for further folding and assembly into macromolecular complexes.
21081504 ChChd3 is a scaffolding protein that stabilizes protein complexes involved in maintaining crista architecture and protein import and is thus essential for maintaining mitochondrial structure and function.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (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

AA Sequence

YMHCVNHAKQSMLEKGG                                                         211 - 227

Text Mined References (39)

PMID Year Title
26416881 2015 The Oxidation Status of Mic19 Regulates MICOS Assembly.
26250910 2016 Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization.
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.
25781180 2015 Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits.
25416956 2014 A proteome-scale map of the human interactome network.
25255805 2014 Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.
24687277 2014 Uniform nomenclature for the mitochondrial contact site and cristae organizing system.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23676277 2013 STED super-resolution microscopy reveals an array of MINOS clusters along human mitochondria.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23019327 2012 Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.
22567091 2012 Cloning and functional analysis of FLJ20420: a novel transcription factor for the BAG-1 promoter.
22252321 2012 Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes.
22228767 2012 CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
22114354 2012 MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21081504 2011 ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19389623 2009 Docking motif-guided mapping of the interactome of protein phosphatase-1.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
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.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.