Property Summary

NCBI Gene PubMed Count 14
PubMed Score 29.89
PubTator Score 17.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
Breast cancer 3099 2.56826298412175E-20
lung carcinoma 2844 4.04176476327643E-19
non-small cell lung cancer 2798 2.06722174749327E-16
lung adenocarcinoma 2714 5.69719369316719E-13
posterior fossa group A ependymoma 1511 7.86087127095412E-8
pediatric high grade glioma 2712 1.14656762402118E-7
pilocytic astrocytoma 3086 7.32460839847709E-7
atypical teratoid/rhabdoid tumor 1095 1.66645516742443E-6
medulloblastoma, large-cell 6234 8.77234226022958E-6
glioblastoma 5572 1.08555643654193E-5
ovarian cancer 8492 1.18778277472024E-4
ductal carcinoma in situ 1745 1.50820998160807E-4
invasive ductal carcinoma 2950 5.52677253647718E-4
diabetes mellitus 1663 0.0012020770871368
group 3 medulloblastoma 2254 0.00742459975096947
acute myeloid leukemia 785 0.0091879742079305
subependymal giant cell astrocytoma 2287 0.0135486591218473
non primary Sjogren syndrome sicca 840 0.0194968295681999
Disease Target Count Z-score Confidence
Rheumatoid Arthritis 1171 0.0 2.0
Disease Target Count Z-score Confidence
Peliosis Hepatis 4 4.329 2.2

Expression

Synonym

Accession Q9BRT2 B2R4I0
Symbols M19
Cbp6
MNF1
C6orf125
bA6B20.2

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Rat OMA Inparanoid
Dog OMA EggNOG
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA EggNOG Inparanoid

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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