|
| 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] |
|
