Property Summary

NCBI Gene PubMed Count 11
PubMed Score 31.81
PubTator Score 2.79

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma -1.400 1.5e-02
ependymoma -1.300 3.8e-02
atypical teratoid / rhabdoid tumor -1.100 1.9e-04
glioblastoma -1.200 4.8e-04
adult high grade glioma -1.100 3.6e-03
non primary Sjogren syndrome sicca 1.100 2.5e-02
pituitary cancer 1.100 2.4e-06

Gene RIF (5)

PMID Text
26530328 mitochondria exhibited lower cristae density in CHCHD6-knockout cells. CHCHD6 directly interacted with Sam50.
22228767 CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
17624330 anti-mitofilin mAb immunocaptures its target protein in association with six other proteins, metaxins 1 and 2, SAM50, CHCHD3, CHCHD6 and DnaJC11, respectively

AA Sequence

MGSTESSEGRRVSFGVDEEERVRVLQGVRLSENVVNRMKEPSSPPPAPTSSTFGLQDGNLRAPHKESTLP      1 - 70
RSGSSGGQQPSGMKEGVKRYEQEHAAIQDKLFQVAKREREAATKHSKASLPTGEGSISHEEQKSVRLARE     71 - 140
LESREAELRRRDTFYKEQLERIERKNAEMYKLSSEQFHEAASKMESTIKPRRVEPVCSGLQAQILHCYRD    141 - 210
RPHEVLLCSDLVKAYQRCVSAAHKG                                                 211 - 235
//

Text Mined References (17)

PMID Year Title
26530328 2015 Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.
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.
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.
22228767 2012 CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.