Table 1.
MNRR1 | CHCHD10 | |
---|---|---|
Protein length | 151 | 142 |
CHCH domain | 114–144 | 102–132 |
Interactions identified using mass spectrometry (BioGRID database) |
97 total unique interactors (common interactors for both: C1QBP, NDUFS3, NDUFA8, COX5A, COX6A1, COX6C, ATP5H, ECH1, USMG5) |
42 total unique interactors (common interactors for both: C1QBP, NDUFS3, NDUFA8, COX5A, COX6A1, COX6C, ATP5H, ECH1, USMG5) |
Expression (Human Protein Atlas) | Expressed in all tissues at medium to high levels |
Muscle, heart, liver (high), brain (medium), and low levels for other tissues |
Mitochondrial function | Regulation of COX activity, ROS production [3], apoptosis [27] |
Regulation of COX activity and ATP production [67], cristae morphology [68, 69] |
Nuclear function | Transcriptional activator for COX4I2 and itself [3] |
Not known to be localized to nucleus |
Hypoxia sensitivity | Upregulated at 4% oxygen [25] | Unknown |
Posttranslational regulation | Phosphorylated at Y99 by Abl2 kinase which activates mitochondrial function [20] |
Unknown |
Disease association (altered protein/transcript levels) |
Huntington's disease [57], hepatocellular carcinoma [66], nonsmall cell lung carcinoma [28], lissencephaly [60] |
Gastric cancer [91] |
Mutation in protein associated with disease |
Parkinson's disease [47] | Mitochondrial myopathy, amyotrophic lateral sclerosis, Alzheimer's disease, frontotemporal dementia, cerebellar ataxia, spinal muscular atrophy, Charcot-Marie-Tooth disease type 2A, motor neuron disease (specific references and mutations summarized in Table 2) |
Functionally characterized mutations | Q112H [20], 300+5G>A [47] | S59L and P34S [68, 69], R15L/G58R [71] |