Property Summary

NCBI Gene PubMed Count 14
PubMed Score 29.89
PubTator Score 17.09

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BRT2 B2R4I0
Symbols M19
Cbp6
MNF1
C6orf125
bA6B20.2

Gene

Gene RIF (7)

PMID Text
25008109 UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2.
24385928 This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis.
22363741 The function of M19, a novel mitochondrial nucleoid protein, is characterized in muscle and pancreatic beta-cells.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
20877624 Observational study of gene-disease association. (HuGE Navigator)
19851445 Observational study of gene-disease association. (HuGE Navigator)
19643811 M19 associates with the nucleoid and likely regulates the organization and metabolism of mtDNA.

AA Sequence

MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESLARLHSNYYKH      1 - 70
KYPRPRDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGPEEDHKA                   71 - 126
//

Text Mined References (17)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25008109 2014 A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
24385928 2013 Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
22363741 2012 M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic ?-cells through modulation of respiratory chain activity.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19851445 2009 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
19643811 2009 Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
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