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MICU1 Gene

protein-coding   GIFtS: 49
GCID: GC10M074128

Mitochondrial Calcium Uptake 1

(Previous name: calcium binding atopy-related autoantigen 1)
(Previous symbol: CBARA1)
  See MICU1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial Calcium Uptake 11 2     MPXPS2 5
CBARA11 2 3 5     Calcium Binding Atopy-Related Autoantigen 11
Atopy-Related Autoantigen CALC2 3     EFHA32
Calcium-Binding Atopy-Related Autoantigen 12 3     Calcium Uptake Protein 1, Mitochondrial2
CALC2 3     Allergen Hom S 43
Ara CALC2 3     

External Ids:    HGNC: 15301   Entrez Gene: 103672   Ensembl: ENSG000001077457   OMIM: 6050845   UniProtKB: Q9BPX63   

Export aliases for MICU1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MICU1 Gene:
This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein
interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential
in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and
cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. (provided
by RefSeq, Mar 2013)

GeneCards Summary for MICU1 Gene:
MICU1 (mitochondrial calcium uptake 1) is a protein-coding gene. Diseases associated with MICU1 include myopathy with extrapyramidal signs, and atopy. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MICU3.

UniProtKB/Swiss-Prot: MICU1_HUMAN, Q9BPX6
Function: Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when
cytoplasmic calcium is low. Acts as a gatekeeper that senses calcium level via its EF-hand domains and sets a
threshold for mitochondrial calcium uptake by MCU, thereby preventing mitochondrial calcium overload. Regulates
glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake. Induces
T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG

Gene Wiki entry for MICU1 (CBARA1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MICU1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMICU1 promoter sequence
   Search Chromatin IP Primers for MICU1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MICU1


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: 10q22.1

MICU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MICU1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M074128:  view genomic region     (about GC identifiers)

Start:
74,127,084 bp from pter      End:
74,385,949 bp from pter
Size:
258,866 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MICU1_HUMAN, Q9BPX6 (See protein sequence)
Recommended Name: Calcium uptake protein 1, mitochondrial precursor  
Size: 476 amino acids; 54351 Da
Subunit: Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1. Interacts with MCU
Allergen: Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as
an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations
Sequence caution: Sequence=BAB14187.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA76830.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in
the N-terminal part;
Secondary accessions: A8MV96 B3KN20 B4DJH9 B4DPI1 B5MBY3 D3YTJ3 O75785 Q9H9N6 Q9UFX0
Alternative splicing: 5 isoforms:  Q9BPX6-1   Q9BPX6-2   Q9BPX6-3   Q9BPX6-4   Q9BPX6-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MICU1: NX_Q9BPX6

Explore proteomics data for MICU1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys294
  • Modification sites at PhosphoSitePlus

  • See MICU1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001182447.1  NP_001182448.1  NP_006068.2  

    ENSEMBL proteins: 
     ENSP00000432492   ENSP00000354415   ENSP00000402470   ENSP00000381747   ENSP00000474809  
     ENSP00000474192   ENSP00000474775   ENSP00000381745   ENSP00000384068  

    MICU1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for MICU1 (3 products) 

     
    antibodies-online peptides for MICU1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q9BPX6

    ProtoNet protein and cluster: Q9BPX6

    UniProtKB/Swiss-Prot: MICU1_HUMAN, Q9BPX6
    Domain: The EF-hand domains have high affinity for calcium and act as sensors of mitochondrial matrix calcium
    levels (PubMed:23101630)
    Similarity: Belongs to the MICU1 family
    Similarity: Contains 2 EF-hand domains


    Find genes that share domains with MICU1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MICU1_HUMAN, Q9BPX6
    Function: Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when
    cytoplasmic calcium is low. Acts as a gatekeeper that senses calcium level via its EF-hand domains and sets a
    threshold for mitochondrial calcium uptake by MCU, thereby preventing mitochondrial calcium overload. Regulates
    glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake. Induces
    T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA--
    GO:0005515protein binding IPI--
    GO:0046982protein heterodimerization activity IPI--
         
    Find genes that share ontologies with MICU1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MICU1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MICU1

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    miRTarBase miRNAs that target MICU1:
    hsa-mir-877-5p (MIRT037375)

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    Selected qRT-PCR Assays for microRNAs that regulate MICU1 (see all 11):
    hsa-miR-3689b hsa-miR-146a hsa-miR-3689a-5p hsa-miR-3689e hsa-miR-544b hsa-miR-214 hsa-miR-518a-5p hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidMICU1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for MICU1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MICU1_HUMAN, Q9BPX6: Mitochondrion intermembrane space

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular TAS9806765
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IDA--
    GO:0005758mitochondrial intermembrane space IDA--
    GO:0032592integral component of mitochondrial membrane IDA--

    Find genes that share ontologies with MICU1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MICU1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling


    Find genes that share SuperPaths with MICU1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MICU1
        Ca, cAMP and Lipid Signaling



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MICU1
    Interactions:

        Search GeneGlobe Interaction Network for MICU1

    5 Interacting proteins for MICU1 (Q9BPX63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BABAM1Q9NWV83I2D: score=2 
    SQSTM1Q135013I2D: score=2 
    ATG2AQ2TAZ03I2D: score=1 
    CLN3Q132863I2D: score=1 
    SLX4Q8IY923I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006851mitochondrial calcium ion transport IMP--
    GO:0006952defense response TAS9806765
    GO:0051260protein homooligomerization IDA--
    GO:0051560mitochondrial calcium ion homeostasis IMP--
    GO:0051561positive regulation of mitochondrial calcium ion concentration IDA--

    Find genes that share ontologies with MICU1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MICU1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MICU1 gene (3 alternative transcripts): 
    NM_001195518.1  NM_001195519.1  NM_006077.3  

    Unigene Cluster for MICU1:

    Mitochondrial calcium uptake 1
    Hs.524367  [show with all ESTs]
    Unigene Representative Sequence: NM_006077
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476605(uc009xqo.2) ENST00000361114(uc010qjx.2 uc010qjw.2)
    ENST00000418483 ENST00000398763 ENST00000489666 ENST00000605385 ENST00000603173
    ENST00000603011 ENST00000604529 ENST00000604238 ENST00000604025 ENST00000398761(uc001jtb.2)
    ENST00000401998
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MICU1 (see all 11):
    hsa-miR-3689b hsa-miR-146a hsa-miR-3689a-5p hsa-miR-3689e hsa-miR-544b hsa-miR-214 hsa-miR-518a-5p hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidMICU1 3' UTR sequence
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    Additional mRNA sequence: 

    AK022697.1 AK023318.1 AK225298.1 AK225695.1 AK296086.1 AK298347.1 AL117423.1 BC004190.2 
    BC004216.2 BC016641.1 Y17711.1 

    15 DOTS entries:

    DT.101963475  DT.80101824  DT.121222050  DT.95210823  DT.100813495  DT.95210831  DT.121221895  DT.100813489 
    DT.100813490  DT.87005401  DT.95216707  DT.121221924  DT.95210837  DT.95210870  DT.99943725 

    Selected AceView cDNA sequences (see all 324):

    BX379961 BX337005 CR625827 BM973960 BU752930 BC004190 AW468092 BM754390 
    AI240618 CB162270 BQ637485 BF970142 BM672537 BU845508 AA250785 AI762381 
    BU627477 BE017961 BQ921003 BM835430 BU187349 AI206577 AW341468 AI470013 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MICU1    About this scheme

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


    ECgene alternative splicing isoforms for MICU1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MICU1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCCTGCAA
    MICU1 Expression
    About this image


    MICU1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Liver (Hepatobiliary System)
     
     Adrenal Gland (Endocrine System)
     
     Kidney (Urinary System)
     
     Gall Bladder (Hepatobiliary System)
    MICU1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MICU1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524367

    UniProtKB/Swiss-Prot: MICU1_HUMAN, Q9BPX6
    Tissue specificity: Expressed in epithelial cell lines. Strongly expressed in epidermal keratinocytes and dermal
    endothelial cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MICU1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MICU1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Micu11 , 5 mitochondrial calcium uptake 11, 5 86.88(n)1
    93.05(a)1
      10 (29.60 cM)5
    2160011  NM_144822.21  NP_659071.11 
     597024775 
    chicken
    (Gallus gallus)
    Aves MICU11 mitochondrial calcium uptake 1 78.01(n)
    81.82(a)
      769141  XM_001231721.3  XP_001231722.3 
    lizard
    (Anolis carolinensis)
    Reptilia MICU16
    mitochondrial calcium uptake 1
    80(a)
    1 ↔ 1
    3(51936862-52141475)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.217022 Xenopus laevis transcribed sequence with weak similarity more 79.62(n)    CA788097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii micu11 mitochondrial calcium uptake 1 71.24(n)
    76.79(a)
      561210  NM_001083833.1  NP_001077302.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG44951 CG4495 59.05(n)
    55.84(a)
      33999  NM_001103640.1  NP_001097110.1 
    worm
    (Caenorhabditis elegans)
    Secernentea micu-11 micu-1 55.26(n)
    51.6(a)
      178287  NM_001268794.1  NP_001255723.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G320601 AT4G32060 46.99(n)
    32.49(a)
      829337  NM_119358.3  NP_194934.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05029001 Os04g0502900 44.6(n)
    35.77(a)
      4336319  NM_001059772.1  NP_001053237.1 


    ENSEMBL Gene Tree for MICU1 (if available)
    TreeFam Gene Tree for MICU1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MICU1 gene
    MICU32  MICU22  
    1 SIMAP similar gene for MICU1 using alignment to 7 protein entries:     MICU1_HUMAN (see all proteins):
    MICU3

    Find genes that share paralogs with MICU1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MICU1 (see all 4887)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426419721,2
    C--68156781(+) AAAAT-/TG    
       
    /TGTG
    TGTGT
    3 -- int10--------
    rs1133323251,2
    F--68186799(+) TTACAG/AGTGCA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs710182881,2
    C--68201583(-) ACACA-/CACA  
     
    /CACACA
    TATAC
    6 -- int1 cds11NA 2
    rs1475965121,2
    C--68201663(+) GCTCTC/GTTGCC 3 -- int10--------
    rs70702871,2
    C,A--68201688(+) CCTCCA/GCCTCC 3 -- int12Minor allele frequency- G:0.33CSA 3
    rs340912471,2
    C--68204154(+) AATTC-/TTTTTT 3 -- int10--------
    rs344300041,2
    C--68204451(+) AAATC-/T/TT  
            
    TTTTT
    3 -- int10--------
    rs114190781,2
    C--68206918(+) AAAAAA/-TCCCA 3 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs127681191,2
    C--68253669(+) ACATAT/CATATA 3 -- int12Minor allele frequency- C:0.00NA 4
    rs57860821,2
    C,F--68275248(+) TGCACT/ATTTTT 3 -- int1 trp33Minor allele frequency- A:0.43NA 136

    HapMap Linkage Disequilibrium report for MICU1 (74127084 - 74377084 bp, first 250kb of MICU1)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MICU1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1734966CNV Insertion17803354
    esv2554610CNV Insertion19546169
    esv269646CNV Insertion20981092
    nsv895722CNV Loss21882294
    nsv470964CNV Loss18288195
    nsv895721CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MICU1
    DNA2.0 Custom Variant and Variant Library Synthesis for MICU1

    (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.)
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    OMIM gene information: 605084   
    OMIM disorders: 615673  
    2 diseases for MICU1:    
    About MalaCards
    myopathy with extrapyramidal signs    atopy


    Find genes that share disorders with MICU1           About GenesLikeMe


    Export disorders for MICU1 gene to outside databases

    (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)
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    PubMed articles for MICU1 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with MICU1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake. (PubMed id 20693986)1, 2, 3 Perocchi F.... Mootha V.K. (Nature 2010)
    2. Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients. (PubMed id 9806765)1, 2, 3 Natter S.... Valenta R. (FASEB J. 1998)
    3. MICU1 is an essential gatekeeper for MCU-mediated mitochondrial Ca(2+) uptake that regulates cell survival. (PubMed id 23101630)1, 2 Mallilankaraman K.... Madesh M. (Cell 2012)
    4. 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. (J. Biol. Chem. 2012)
    5. Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. (PubMed id 21685886)1, 2 Baughman J.M.... Mootha V.K. (Nature 2011)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    8. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. (PubMed id 24336167)1 Logan C.V....Sheridan E. (Nat. Genet. 2014)
    9. MICU1 controls both the threshold and cooperative activation of the mitochondrial CaA^a8_ uniporter. (PubMed id 23747253)1 CsordA!s G....HajnA^czky G. (Cell Metab. 2013)
    10. CBARA1 plays a role in stemness and proliferation of human embryonic stem cells. (PubMed id 23667653)1 Chen K....Chen W. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10367 HGNC: 1530 AceView: CBARA1 Ensembl:ENSG00000107745 euGenes: HUgn10367
    ECgene: MICU1 H-InvDB: MICU1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MICU1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MICU1 gene:
    Search GeneIP for patents involving MICU1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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