Property Summary

NCBI Gene PubMed Count 36
Grant Count 106
R01 Count 53
Funding $40,923,585.58
PubMed Score 584.89
PubTator Score 189.42

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.099 0.005
lung cancer 1.200 0.000
ovarian cancer 2.200 0.000

Synonym

Accession Q16891 B1H0U5 B2R5N6 Q14539 Q15092 Q68D41 Q69HW5 Q6IBL0 Q7Z3X1 Q8TAJ5 Q9P0V2
Symbols HMP
P87
P89
PIG4
Mic60
PIG52
MINOS2
P87/89

Gene

 GO Function (1)

Gene RIF (13)

PMID Text
26530328 Mitofilin-knockdown cells showed decreased mitochondrial membrane potential (DeltaPsim) and intracellular ATP content, which were minimally affected in CHCHD6-knockout cells.
25612828 Mic60 interacted with mtDNA and was involved in the architecture of mtDNA D-loop region. Taken together, our findings reveal a previously unrecognized important role of Mic60 in mtDNA transcription.
25463274 Transgenic overexpression of mitofilin preserves mitochondrial structure, leading to restoration of mitochondrial function and attenuation of cardiac contractile dysfunction in the diabetic heart.
24555791 Mitofilin, a mitochondria protein, is shown to be related to cardiac hypertrophy for the first time, which enhances our understanding of the role of mitochondria in cardiac hypertrophy.
23704930 APOOL is a cardiolipin-binding component of the Mitofilin/MINOS protein complex.
23058921 mitofilin distinctly functions in mitochondrial cristae remodeling and controls cytochrome c release during apoptosis.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
22228767 CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
20880836 The mitochondrial dysfunction induced by DISC1 deficiency was partially reversed by coexpression of Mitofilin, confirming a functional link between DISC1 and Mitofilin for the normal mitochondrial function.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MLRACQLSGVTAAAQSCLCGKFVLRPLRPCRRYSTSGSSGLTTGKIAGAGLLFVGGGIGGTILYAKWDSH      1 - 70
FRESVEKTIPYSDKLFEMVLGPAAYNVPLPKKSIQSGPLKISSVSEVMKESKQPASQLQKQKGDTPASAT     71 - 140
APTEAAQIISAAGDTLSVPAPAVQPEESLKTDHPEIGEGKPTPALSEEASSSSIRERPPEEVAARLAQQE    141 - 210
KQEQVKIESLAKSLEDALRQTASVTLQAIAAQNAAVQAVNAHSNILKAAMDNSEIAGEKKSAQWRTVEGA    211 - 280
LKERRKAVDEAADALLKAKEELEKMKSVIENAKKKEVAGAKPHITAAEGKLHNMIVDLDNVVKKVQAAQS    281 - 350
EAKVVSQYHELVVQARDDFKRELDSITPEVLPGWKGMSVSDLADKLSTDDLNSLIAHAHRRIDQLNRELA    351 - 420
EQKATEKQHITLALEKQKLEEKRAFDSAVAKALEHHRSEIQAEQDRKIEEVRDAMENEMRTQLRRQAAAH    421 - 490
TDHLRDVLRVQEQELKSEFEQNLSEKLSEQELQFRRLSQEQVDNFTLDINTAYARLRGIEQAVQSHAVAE    491 - 560
EEARKAHQLWLSVEALKYSMKTSSAETPTIPLGSAVEAIKANCSDNEFTQALTAAIPPESLTRGVYSEET    561 - 630
LRARFYAVQKLARRVAMIDETRNSLYQYFLSYLQSLLLFPPQQLKPPPELCPEDINTFKLLSYASYCIEH    631 - 700
GDLELAAKFVNQLKGESRRVAQDWLKEARMTLETKQIVEILTAYASAVGIGTTQVQPE                701 - 758
//

Text Mined References (46)

PMID Year Title
26530328 2015 Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.
26168012 2015 Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
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.
25764979 2015 The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions.
25612828 2015 Suppression of Mic60 compromises mitochondrial transcription and oxidative phosphorylation.
25463274 2015 Transgenic overexpression of mitofilin attenuates diabetes mellitus-associated cardiac and mitochondria dysfunction.
24687277 2014 Uniform nomenclature for the mitochondrial contact site and cristae organizing system.
24555791 2014 Overexpression of mitofilin in the mouse heart promotes cardiac hypertrophy in response to hypertrophic stimuli.
More...