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Aliases for MCU Gene

Aliases for MCU Gene

  • Mitochondrial Calcium Uniporter 2 3 5
  • Coiled-Coil Domain-Containing Protein 109A 3 4
  • C10orf42 3 4
  • CCDC109A 3 4
  • Coiled-Coil Domain Containing 109A 2

External Ids for MCU Gene

Previous HGNC Symbols for MCU Gene

  • C10orf42
  • CCDC109A

Previous GeneCards Identifiers for MCU Gene

  • GC10P074452

Summaries for MCU Gene

Entrez Gene Summary for MCU Gene

  • This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

GeneCards Summary for MCU Gene

MCU (Mitochondrial Calcium Uniporter) is a Protein Coding gene. Diseases associated with MCU include acute cystitis and bladder disease. Among its related pathways are Ca, cAMP and Lipid Signaling. GO annotations related to this gene include identical protein binding and uniporter activity. An important paralog of this gene is CCDC109B.

UniProtKB/Swiss-Prot for MCU Gene

  • Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:26341627). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCU Gene

Genomics for MCU Gene

Regulatory Elements for MCU Gene

Enhancers for MCU Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MCU on UCSC Golden Path with GeneCards custom track

Promoters for MCU Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCU on UCSC Golden Path with GeneCards custom track

Genomic Location for MCU Gene

Chromosome:
10
Start:
72,692,131 bp from pter
End:
72,887,694 bp from pter
Size:
195,564 bases
Orientation:
Plus strand

Genomic View for MCU Gene

Genes around MCU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCU Gene

Proteins for MCU Gene

  • Protein details for MCU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NE86-MCU_HUMAN
    Recommended name:
    Calcium uniporter protein, mitochondrial
    Protein Accession:
    Q8NE86
    Secondary Accessions:
    • B2RDF3
    • B3KXV7
    • Q96FL3

    Protein attributes for MCU Gene

    Size:
    351 amino acids
    Molecular mass:
    39867 Da
    Quaternary structure:
    • Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed:24231807). Heterotetramer with CCDC109B/MCUB; this inhibits channel activity (By similarity). Homooligomer (PubMed:21685886, PubMed:26341627). Homotetramer. Interacts with MICU1; MICU1 acts as an essential regulator for MCU (PubMed:21685886, PubMed:23101630, PubMed:23178883, PubMed:24332854, PubMed:26341627). Interacts with MCUR1 (PubMed:23178883, PubMed:26341627). Interactions with MICU1 and MCUR1 are mutually exclusive (PubMed:23178883). Interacts with MICU2 (PubMed:26341627).

    Three dimensional structures from OCA and Proteopedia for MCU Gene

    Alternative splice isoforms for MCU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCU Gene

Proteomics data for MCU Gene at MOPED

Post-translational modifications for MCU Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCU Gene

Domains & Families for MCU Gene

Protein Domains for MCU Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCU Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NE86

UniProtKB/Swiss-Prot:

MCU_HUMAN :
  • The N-terminal domain is required for efficient Ca(2+) uptake and for interaction with MCUR1. It is not required for targeting to the mitochondria, oligomerization, interaction with MICU1 and MICU2, or assembly of the uniplex complex.
  • Belongs to the MCU (TC 1.A.77) family.
Domain:
  • The N-terminal domain is required for efficient Ca(2+) uptake and for interaction with MCUR1. It is not required for targeting to the mitochondria, oligomerization, interaction with MICU1 and MICU2, or assembly of the uniplex complex.
Family:
  • Belongs to the MCU (TC 1.A.77) family.
genes like me logo Genes that share domains with MCU: view

No data available for Gene Families for MCU Gene

Function for MCU Gene

Molecular function for MCU Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:26341627). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213).
genes like me logo Genes that share phenotypes with MCU: view

Animal Models for MCU Gene

MGI Knock Outs for MCU:
  • Mcu tm1b(EUCOMM)Hmgu

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCU Gene

Localization for MCU Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCU Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCU Gene COMPARTMENTS Subcellular localization image for MCU gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 2
plasma membrane 2
extracellular 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 24231807
GO:0034704 calcium channel complex ISS --
genes like me logo Genes that share ontologies with MCU: view

Pathways & Interactions for MCU Gene

SuperPathways for MCU Gene

genes like me logo Genes that share pathways with MCU: view

Pathways by source for MCU Gene

1 Cell Signaling Technology pathway for MCU Gene

Interacting Proteins for MCU Gene

Gene Ontology (GO) - Biological Process for MCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transport IMP 21685886
GO:0019722 calcium-mediated signaling IDA 21685886
GO:0035786 protein complex oligomerization IDA 21685886
genes like me logo Genes that share ontologies with MCU: view

No data available for SIGNOR curated interactions for MCU Gene

Drugs & Compounds for MCU Gene

No Compound Related Data Available

Transcripts for MCU Gene

Unigene Clusters for MCU Gene

Mitochondrial calcium uniporter:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCU Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - -
SP5:
SP6: - -
SP7: - -

Relevant External Links for MCU Gene

GeneLoc Exon Structure for
MCU
ECgene alternative splicing isoforms for
MCU

Expression for MCU Gene

mRNA expression in normal human tissues for MCU Gene

mRNA differential expression in normal tissues according to GTEx for MCU Gene

This gene is overexpressed in Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for MCU Gene

This gene is overexpressed in Nasal epithelium (53.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCU Gene



SOURCE GeneReport for Unigene cluster for MCU Gene Hs.591366

genes like me logo Genes that share expression patterns with MCU: view

Protein tissue co-expression partners for MCU Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MCU Gene

Orthologs for MCU Gene

This gene was present in the common ancestor of animals.

Orthologs for MCU Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MCU 35
  • 95.25 (n)
  • 98.58 (a)
MCU 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCU 35
  • 94.88 (n)
  • 98.75 (a)
MCU 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcu 35
  • 88.19 (n)
  • 96.24 (a)
Mcu 16
Mcu 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCU 35
  • 99.34 (n)
  • 99.67 (a)
MCU 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcu 35
  • 88.4 (n)
  • 95.61 (a)
oppossum
(Monodelphis domestica)
Mammalia MCU 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCU 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCU 35
  • 81.7 (n)
  • 89.59 (a)
MCU 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCU 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcu 35
  • 75.98 (n)
  • 80.32 (a)
zebrafish
(Danio rerio)
Actinopterygii mcu 35
  • 70.72 (n)
  • 78.82 (a)
mcu 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006330 35
  • 54.33 (n)
  • 54.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18769 35
  • 50.7 (n)
  • 46.6 (a)
CG18769 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mcu-1 35
  • 49.94 (n)
  • 43.22 (a)
mcu-1 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for MCU:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCU Gene

ENSEMBL:
Gene Tree for MCU (if available)
TreeFam:
Gene Tree for MCU (if available)

Paralogs for MCU Gene

Paralogs for MCU Gene

(1) SIMAP similar genes for MCU Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with MCU: view

Variants for MCU Gene

Sequence variations from dbSNP and Humsavar for MCU Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1867650 -- 72,763,268(-) aaaat(A/G)tgtcc intron-variant
rs1867651 -- 72,763,201(-) acaga(C/T)gtggc intron-variant
rs1867652 -- 72,708,949(-) CTTAC(C/T)GCAGC intron-variant
rs3009546 -- 72,724,356(-) TTTTA(A/C/G)AAGAA intron-variant
rs3009547 -- 72,722,365(-) CATCT(A/G)GTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCU Gene

Variant ID Type Subtype PubMed ID
nsv895722 CNV Loss 21882294
nsv895723 CNV Loss 21882294
dgv299e1 CNV Complex 17122850
nsv7121 CNV Insertion 18451855

Variation tolerance for MCU Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCU Gene

HapMap Linkage Disequilibrium report
MCU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCU Gene

Disorders for MCU Gene

MalaCards: The human disease database

(6) MalaCards diseases for MCU Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute cystitis
  • urinary tract infection
bladder disease
  • urinary bladder disease
urethral diverticulum
bladder diverticulum
  • diverticulum - bladder
ureteral disease
  • ureteral diseases
- elite association - COSMIC cancer census association via MalaCards
Search MCU in MalaCards View complete list of genes associated with diseases

Relevant External Links for MCU

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCU
genes like me logo Genes that share disorders with MCU: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MCU Gene

Publications for MCU Gene

  1. A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter. (PMID: 21685888) De Stefani D. … Rizzuto R. (Nature 2011) 2 3 4 67
  2. Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. (PMID: 21685886) Baughman J.M. … Mootha V.K. (Nature 2011) 2 3
  3. Mitochondrial CaA^a8_ uniporter is critical for store-operated CaA^a8_ entry-dependent breast cancer cell migration. (PMID: 25640838) Tang S. … Zou F. (Biochem. Biophys. Res. Commun. 2015) 3
  4. Mitochondrial calcium uniporter protein MCU is involved in oxidative stress-induced cell death. (PMID: 25753332) Liao Y. … Cheng J. (Protein Cell 2015) 3
  5. Loss of heterozygosity at the calcium regulation gene locus on chromosome 10q in human pancreatic cancer. (PMID: 25824785) Long J. … Ge C.L. (Asian Pac. J. Cancer Prev. 2015) 3

Products for MCU Gene

Sources for MCU Gene

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