Property Summary

NCBI Gene PubMed Count 11
PubMed Score 4.62
PubTator Score 5.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
IGA Glomerulonephritis 454
Disease Target Count P-value
malignant mesothelioma 3163 1.45035103489984E-7
invasive ductal carcinoma 2950 1.51409780314444E-4
medulloblastoma, large-cell 6234 2.93483722656145E-4
pancreatic carcinoma 567 4.60505746880741E-4
pancreatic cancer 2300 4.60505746880746E-4
psoriasis 6685 5.99063508324194E-4
group 4 medulloblastoma 1875 0.00113590931812674
lung cancer 4473 0.00310180560564368
ovarian cancer 8492 0.004261780066135
Breast cancer 3099 0.0260219833290876
Disease Target Count Z-score Confidence
Wolf-Hirschhorn syndrome 32 4.255 2.1

Expression

  Differential Expression (10)

Disease log2 FC p
pancreatic cancer 1.600 0.000
malignant mesothelioma 2.000 0.000
psoriasis 1.100 0.001
medulloblastoma, large-cell -1.100 0.000
lung cancer 1.300 0.003
Breast cancer 3.800 0.026
group 4 medulloblastoma -1.100 0.001
pancreatic carcinoma 1.600 0.000
invasive ductal carcinoma -1.260 0.000
ovarian cancer 1.600 0.004

Synonym

Accession Q96AQ8 Q96JS7 Q9H7F8 MCU regulator 1
Symbols FMP32
C6orf79
CCDC90A

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG
Pig OMA EggNOG
Opossum OMA EggNOG
Xenopus EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid

Pathway (1)

Gene RIF (4)

PMID Text
27001609 Data suggest that MCU regulator (EMRE) might be a structural factor for opening of the mitochondrial calcium uniporter (MCU)-forming pore.
26976564 MCUR1 regulates the calcium threshold for the mitochondrial permeability transition.
25565209 CCDC90A is not directly implicated in MCU function, and that the Ca2+ uptake defect associated with loss of CCDC90A function is likely secondary to the respiratory chain deficiency.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MDCGSVGGQRTQRLPGRQRLLFLPVGLSGRPGGSETSARRCLSALSDGLGALRPRAPAARGGVSRASPLL      1 - 70
LLLLVPSPRLAAAAPRRQLGDWERSRLGYAAPPAGRSSAWRCSPGVAAAAGALPQYHGPAPALVSCRREL     71 - 140
SLSAGSLQLERKRRDFTSSGSRKLYFDTHALVCLLEDNGFATQQAEIIVSALVKILEANMDIVYKDMVTK    141 - 210
MQQEITFQQVMSQIANVKKDMIILEKSEFSALRAENEKIKLELHQLKQQVMDEVIKVRTDTKLDFNLEKS    211 - 280
RVKELYSLNEKKLLELRTEIVALHAQQDRALTQTDRKIETEVAGLKTMLESHKLDNIKYLAGSIFTCLTV    281 - 350
ALGFYRLWI                                                                 351 - 359
//

Text Mined References (15)

PMID Year Title
27184846 2016 MCUR1 Is a Scaffold Factor for the MCU Complex Function and Promotes Mitochondrial Bioenergetics.
27001609 2016 Analysis of the structure and function of EMRE in a yeast expression system.
26976564 2016 Mitochondrial calcium uniporter regulator 1 (MCUR1) regulates the calcium threshold for the mitochondrial permeability transition.
26445506 2015 MCUR1, CCDC90A, Is a Regulator of the Mitochondrial Calcium Uniporter.
26341627 2015 Structure and function of the N-terminal domain of the human mitochondrial calcium uniporter.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25565209 2015 CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter.
23178883 2012 MCUR1 is an essential component of mitochondrial Ca2+ uptake that regulates cellular metabolism.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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