MCU Gene
protein-coding GIFtS: 44
GCID: GC10P074452
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mitochondrial calcium uniporter(Previous name: coiled-coil domain containing 109A )
(Previous symbols: C10orf42, CCDC109A)
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Aliases
for MCU gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrial Calcium Uniporter1 2 | | FLJ461351 | | C10orf421 2 3 | | Coiled-Coil Domain Containing 109A1 | | CCDC109A1 2 3 | | Calcium Uniporter Protein, Mitochondrial2 | | Coiled-Coil Domain-Containing Protein 109A2 3 | | |
Export aliases for MCU gene to outside databases |
Summaries
for MCU gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MCU:
This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded proteininteracts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. (providedby RefSeq, Jul 2012)
UniProtKB/Swiss-Prot: MCU_HUMAN, Q8NE86Function: Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondrion. Mitochondrialcalcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calciumsignals and activation of cell death pathways. Regulates glucose-dependent insulin secretion in pancreatic beta-cellsby regulating mitochondrial calcium uptake. Involved in buffering the amplitude of systolic calcium rises incardiomyocytes
|
Genomic Views
for MCU gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MCU
Other transcription factors
Search SABiosciences Chromatin IP Primers for MCU
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCU |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q22.1 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22.2MCU Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P074452: view genomic region
(about GC identifiers)
Start:
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74,451,889 bp from pter |
End:
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74,647,452 bp from pter |
Size:
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195,564 bases |
Orientation:
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plus strand |
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Proteins
for MCU gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MCU_HUMAN, Q8NE86 (See
protein sequence)Recommended Name: Calcium uniporter protein, mitochondrial Size: 351 amino acids; 39867 Da
Subunit: Homooligomer. Interacts with MICU1; MICU1 acts as an essential gatekeeper for MCU. Interacts withCCDC90A/MCUR1; interaction with MICU1 and CCDC90A/MCUR1 are mutually exclusive
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: B2RDF3 B3KXV7 Q96FL3Alternative splicing: 3 isoforms: Q8NE86-1 Q8NE86-2 Q8NE86-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MCU: NX_Q8NE86
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NE86
MCU Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001257608.1 NP_001257609.1 NP_612366.1
ENSEMBL proteins: ENSP00000362144 ENSP00000349680 ENSP00000440913
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MCU for ontologies About GeneDecksing
MCU Antibody Products:
Assay Products for MCU: |
Protein
Domains /
Families
for MCU gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MCU for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8NE86ProtoNet protein and cluster: Q8NE86 UniProtKB/Swiss-Prot: MCU_HUMAN, Q8NE86Similarity: Belongs to the MCU family |
Function
for MCU gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MCU_HUMAN, Q8NE86Function: Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondrion. Mitochondrialcalcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calciumsignals and activation of cell death pathways. Regulates glucose-dependent insulin secretion in pancreatic beta-cellsby regulating mitochondrial calcium uptake. Involved in buffering the amplitude of systolic calcium rises incardiomyocytes
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCU (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCU
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for MCU | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCU |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCU |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
MCU for ontologies About GeneDecksing
|
Pathways & Interactions
for MCU gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCU
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
5/233 Interacting proteins for MCU (Q8NE862, 3 ENSP000003621444) via UniProtKB, MINT, STRING, and/or I2D (see all 233)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006851 | mitochondrial calcium ion transport |
IMP | -- | | GO:0019722 | calcium-mediated signaling |
IDA | -- | | GO:0032024 | positive regulation of insulin secretion |
IMP | -- | | GO:0035786 | protein complex oligomerization |
IDA | -- | | GO:0042593 | glucose homeostasis |
IMP | -- |
MCU for ontologies About GeneDecksing
|
Drugs & Compounds
for MCU gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MCU
Search CenterWatch for drugs/clinical trials and news about MCU
|
Transcripts
for MCU gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MCU gene (3 alternative transcripts): NM_001270679.1 NM_001270680.1 NM_138357.2 Unigene Cluster for MCU: Mitochondrial calcium uniporter Hs.591366 [show with all ESTs]Unigene Representative Sequence: NM_0012706804 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000373053(uc009xqp.1 uc009xqq.1 uc010qjy.1 uc001jtc.3)
ENST00000357157(uc009xqr.3) ENST00000483185 ENST00000536019(uc001jtd.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCU (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCU
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for MCU | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCU | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCU |
Additional cDNA sequence: AK025699.1 AK075439.1 AK128016.1 AK301475.1 AK310455.1 AK311133.1 AK315519.1 BC010682.1 BC034235.1 NR_073062.1 6 DOTS entries: DT.445998 DT.100801405 DT.121299991 DT.121300003 DT.100665887 DT.99968136 24/138 AceView cDNA sequences (see all 138): CD519985 AA769229 BM782215 BM766897 AI863290 NM_138357 BM986978 BU752645 AK128016 BX482619 BM754070 BX478050 BC010682 CB129611 BG505195 CK429538 BQ638078 AA884837 AA582557 AA868007 BU173006 BX431657 BQ228499 AA653386
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MCU (see all 7) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 |
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| SP1: | | | - | | - | | - | | - | | - | | | | | | | | - | | | | | | - | | - | | - | | | | | | - | | | | |
| SP2: | | | - | | - | | - | | - | | - | | | | | | | | - | | | | - | | - | | | | | | | | | | - | | | | |
| SP3: | | | | | - | | - | | - | | - | | | | | | | | - | | | | - | | - | | | | | | | | | | - | | | | |
| SP4: | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MCU
|
Expression
for MCU gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MCU expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTAAAATCC
About this image
See MCU Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCU
SOURCE GeneReport for Unigene cluster: Hs.591366
SABiosciences Custom PCR Arrays for MCU
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCU
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MCU | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCU | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCU | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCU |
Orthologs
for MCU gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MCU gene from 9/27 species (see all 27) About this table
ENSEMBL Gene Tree for MCU (if available)
TreeFam Gene Tree for MCU (if available) |
Paralogs
for MCU gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MCU gene
- CCDC109B2
1 SIMAP similar gene for MCU using alignment to 1 protein entry: MCU_HUMAN:CCDC109B
MCU for paralogs About GeneDecksing
|
Genomic Variants
for MCU gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MCU (74451889 - 74647452 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MCU: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCU |
|
Disorders
/ Diseases
for MCU gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 MCU for disorders About MalaCards
MCU for disorders About GeneDecksing
OMIM gene information: 614197
OMIM disorders: --
Export disorders for MCU gene to outside databases
|
Publications
for MCU gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MCU gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with MCU) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A forty-kilodalton protein of the inner membrane is t he mitochondrial calcium uniporter. (PubMed id 21685888)1, 2, 3 De Stefani D....Rizzuto R. (2011)
- Integrative genomics identifies MCU as an essential c omponent of the mitochondrial calcium uniporter. (PubMed id 21685886)1, 2, 3 Baughman J.M....Mootha V.K. (2011)
- Evolutionary diversity of the mitochondrial calcium un iporter. (PubMed id 22605770)1, 2 Bick A.G....Mootha V.K. (2012)
- Mitochondrial Ca2+ uptake 1 (MICU1) and mitochondrial ca2+ uniporter (MCU) contribute to metabolism-secretion coupling in clonal pancreatic beta-cells. (PubMed id 22904319)1, 2 Alam M.R.... Graier W.F. (2012)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Calcium transport across the inner mitochondrial membr ane: molecular mechanisms and pharmacology. (PubMed id 22123069)1 Csordas G....Hajnoczky G. (2012)
- MCUR1 is an essential component of mitochondrial Ca(2+) uptake that regulates cellular metabolism. (PubMed id 23178883)2 Mallilankaraman K.... Madesh M. (2012)
- Mitochondrial Ca2+ uptake contributes to buffering cytoplasmic Ca2+ peaks in cardiomyocytes. (PubMed id 22822213)2 Drago I.... Pozzan T. (2012)
- MICU1 is an essential gatekeeper for MCU-mediated mitochondrial Ca(2+) uptake that regulates cell survival. (PubMed id 23101630)2 Mallilankaraman K.... Madesh M. (2012)
|
External Searches for MCU gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MCU gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MCU gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MCU gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MCU | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MCU gene:
Search GeneIP for patents involving MCU
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MCU gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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variant library, vector shuttling | | | OriGene Custom Antibody Services for MCU | | OriGene Custom Protein Services for MCU | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MCU | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCU | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCU | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCU | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCU | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCU |
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 |  |  |  | |
| | | | Search Tocris compounds for MCU |
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 | | | MCU Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCU |
|  |  |  | | | | Search ThermoFisher Antibodies for MCU |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCU |
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