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Aliases for MICU1 Gene

Aliases for MICU1 Gene

  • Mitochondrial Calcium Uptake 1 2 3
  • CBARA1 3 4 6
  • Calcium-Binding Atopy-Related Autoantigen 1 3 4
  • Atopy-Related Autoantigen CALC 3 4
  • Ara CALC 3 4
  • MPXPS 3 6
  • CALC 3 4
  • Calcium Binding Atopy-Related Autoantigen 1 2
  • Calcium Uptake Protein 1, Mitochondrial 3
  • Allergen Hom S 4 4
  • EFHA3 3

External Ids for MICU1 Gene

Previous HGNC Symbols for MICU1 Gene

  • CBARA1

Previous GeneCards Identifiers for MICU1 Gene

  • GC10M074128

Summaries for MICU1 Gene

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 proximal myopathy with extrapyramidal signs. Among its related pathways are Ca, cAMP and Lipid Signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MICU3.

UniProtKB/Swiss-Prot for MICU1 Gene

  • Key regulator of mitochondrial calcium uniporter (MCU) required to increase calcium uptake by MCU when cytoplasmic calcium is high. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, respectively. MICU1 acts as a stimulator of MCU that senses calcium level via its EF-hand domains: enhances MCU opening at high Ca(2+) concentration, allowing a rapid response of mitochondria to Ca(2+) signals generated in the cytoplasm. 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MICU1 Gene

Genomics for MICU1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MICU1 Gene

Start:
72,367,326 bp from pter
End:
72,626,191 bp from pter
Size:
258,866 bases
Orientation:
Minus strand

Genomic View for MICU1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MICU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MICU1 Gene

No data available for Regulatory Elements for MICU1 Gene

Proteins for MICU1 Gene

  • Protein details for MICU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BPX6-MICU1_HUMAN
    Recommended name:
    Calcium uptake protein 1, mitochondrial
    Protein Accession:
    Q9BPX6
    Secondary Accessions:
    • A8MV96
    • B3KN20
    • B4DJH9
    • B4DPI1
    • B5MBY3
    • D3YTJ3
    • O75785
    • Q9H9N6
    • Q9UFX0

    Protein attributes for MICU1 Gene

    Size:
    476 amino acids
    Molecular mass:
    54351 Da
    Quaternary structure:
    • Homohexamer; in absence of Ca(2+). Homooligomer; in presence of Ca(2+). Heterodimer; disulfide-linked; heterodimerizes with MICU2. Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1. Interacts (via polybasic region) with MCU (via coiled coil domains); the interaction is direct.
    SequenceCaution:
    • Sequence=BAB14187.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA76830.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MICU1 Gene

    Alternative splice isoforms for MICU1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MICU1 Gene

Proteomics data for MICU1 Gene at MOPED

Post-translational modifications for MICU1 Gene

  • Ubiquitination at Lys294
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MICU1 (MICU1)

No data available for DME Specific Peptides for MICU1 Gene

Domains for MICU1 Gene

Gene Families for MICU1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for MICU1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BPX6

UniProtKB/Swiss-Prot:

MICU1_HUMAN :
  • Q9BPX6
Domain:
  • The C-helix is required for assembling the Ca(2+)-free homohexamer (PubMed:24514027). It also plays a key role in mitochondrial calcium uptake, probably by mediating interaction with MICU2 (PubMed:24503055, PubMed:24514027).
  • The EF-hand domains have high affinity for calcium and act as sensors of calcium levels (PubMed:23101630, PubMed:24560927).
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the MICU1 family. MICU1 subfamily.
genes like me logo Genes that share domains with MICU1: view

No data available for Suggested Antigen Peptide Sequences for MICU1 Gene

Function for MICU1 Gene

Molecular function for MICU1 Gene

UniProtKB/Swiss-Prot Function: Key regulator of mitochondrial calcium uniporter (MCU) required to increase calcium uptake by MCU when cytoplasmic calcium is high. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, respectively. MICU1 acts as a stimulator of MCU that senses calcium level via its EF-hand domains: enhances MCU opening at high Ca(2+) concentration, allowing a rapid response of mitochondria to Ca(2+) signals generated in the cytoplasm. 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) - Molecular Function for MICU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 23101630
GO:0005515 protein binding IPI 21685886
GO:0042802 identical protein binding IPI 24514027
GO:0046982 protein heterodimerization activity IPI 24560927
genes like me logo Genes that share ontologies with MICU1: view
genes like me logo Genes that share phenotypes with MICU1: view

Animal Model Products

CRISPR Products

miRNA for MICU1 Gene

miRTarBase miRNAs that target MICU1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MICU1 Gene

Localization for MICU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MICU1 Gene

Mitochondrion inner membrane; Peripheral membrane protein. Mitochondrion intermembrane space. Note=Localizes at the outer surface of the mitochondrion inner membrane.

Gene Ontology (GO) - Cellular Components for MICU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9806765
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IDA 20693986
GO:0005758 mitochondrial intermembrane space IDA 24231807
GO:0032592 integral component of mitochondrial membrane IDA 23101630
genes like me logo Genes that share ontologies with MICU1: view

No data available for Subcellular locations from COMPARTMENTS for MICU1 Gene

Pathways for MICU1 Gene

SuperPathways for MICU1 Gene

genes like me logo Genes that share pathways with MICU1: view

Pathways by source for MICU1 Gene

1 Cell Signaling Technology pathway for MICU1 Gene

Interacting Proteins for MICU1 Gene

Gene Ontology (GO) - Biological Process for MICU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transport IMP 23101630
GO:0006952 defense response TAS 9806765
GO:0036444 calcium ion transmembrane import into mitochondrion IMP 22925203
GO:0051260 protein homooligomerization IDA 24514027
GO:0051560 mitochondrial calcium ion homeostasis IMP 20693986
genes like me logo Genes that share ontologies with MICU1: view

Transcripts for MICU1 Gene

Unigene Clusters for MICU1 Gene

Mitochondrial calcium uptake 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MICU1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MICU1 Gene

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

Relevant External Links for MICU1 Gene

GeneLoc Exon Structure for
MICU1
ECgene alternative splicing isoforms for
MICU1

Expression for MICU1 Gene

mRNA expression in normal human tissues for MICU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MICU1 Gene

SOURCE GeneReport for Unigene cluster for MICU1 Gene Hs.524367

mRNA Expression by UniProt/SwissProt for MICU1 Gene

Q9BPX6-MICU1_HUMAN
Tissue specificity: Expressed in epithelial cell lines. Strongly expressed in epidermal keratinocytes and dermal endothelial cells.
genes like me logo Genes that share expressions with MICU1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MICU1 Gene

Orthologs for MICU1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MICU1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MICU1 35
  • 99.87 (n)
  • 99.61 (a)
MICU1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MICU1 35
  • 92.72 (n)
  • 94.96 (a)
MICU1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MICU1 35
  • 92.79 (n)
  • 95.59 (a)
MICU1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Micu1 35
  • 86.88 (n)
  • 93.05 (a)
Micu1 16
Micu1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MICU1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MICU1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Micu1 35
  • 86.74 (n)
  • 93.68 (a)
chicken
(Gallus gallus)
Aves MICU1 35
  • 78.01 (n)
  • 81.82 (a)
MICU1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MICU1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21702 35
tropical clawed frog
(Silurana tropicalis)
Amphibia micu1 35
  • 75.19 (n)
  • 82.45 (a)
Str.18083 35
zebrafish
(Danio rerio)
Actinopterygii micu1 35
  • 71.24 (n)
  • 76.79 (a)
micu1 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009117 35
  • 59.07 (n)
  • 55.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4495 35
  • 59.05 (n)
  • 55.84 (a)
CG4495 36
  • 44 (a)
OneToMany
CG4704 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea micu-1 35
  • 55.26 (n)
  • 51.6 (a)
micu-1 36
  • 37 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32060 35
  • 46.99 (n)
  • 32.49 (a)
rice
(Oryza sativa)
Liliopsida Os04g0502900 35
  • 44.6 (n)
  • 35.77 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7252 36
  • 51 (a)
OneToOne
Species with no ortholog for MICU1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MICU1 Gene

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

Paralogs for MICU1 Gene

Paralogs for MICU1 Gene

Selected SIMAP similar genes for MICU1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MICU1: view

Variants for MICU1 Gene

Sequence variations from dbSNP and Humsavar for MICU1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs12270 -- 72,367,457(+) GAGAG(C/G)AAATG utr-variant-3-prime
rs13688 -- 72,367,463(+) AAATG(A/G)CACTT utr-variant-3-prime
rs915432 -- 72,475,059(+) ATCAG(C/T)TCCAC intron-variant
rs915433 -- 72,475,474(+) CCCAG(G/T)CTGGA intron-variant
rs915434 -- 72,541,967(+) AAGAA(C/T)GGCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MICU1 Gene

Variant ID Type Subtype PubMed ID
nsv895721 CNV Gain 21882294
esv269646 CNV Insertion 20981092
esv2554610 CNV Insertion 19546169
nsv470964 CNV Loss 18288195
esv1734966 CNV Insertion 17803354
nsv895722 CNV Loss 21882294

Relevant External Links for MICU1 Gene

HapMap Linkage Disequilibrium report
MICU1
Human Gene Mutation Database (HGMD)
MICU1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MICU1 Gene

Disorders for MICU1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for MICU1 Gene including...

Search for MICU1 Gene in MalaCards »

(1) OMIM Diseases for MICU1 Gene (605084)

UniProtKB/Swiss-Prot

MICU1_HUMAN
  • Myopathy with extrapyramidal signs (MPXPS) [MIM:615673]: An autosomal recessive disorder characterized by early-onset proximal muscle weakness with a static course and moderately to grossly elevated serum creatine kinase levels accompanied by learning difficulties. Most patients develop subtle extrapyramidal motor signs that progress to a debilitating disorder of involuntary movement with variable features, including chorea, tremor, dystonic posturing and orofacial dyskinesia. Additional variable features include ataxia, microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal peripheral neuropathy. {ECO:0000269 PubMed:24336167}. Note=The disease is caused by mutations affecting the gene represented in this entry. The complex phenotype is due to alterations in mitochondrial calcium signaling characterized by increased mitochondrial Ca(2+) load (PubMed:24336167). {ECO:0000269 PubMed:24336167}.
genes like me logo Genes that share disorders with MICU1: view

Publications for MICU1 Gene

  1. Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients. (PMID: 9806765) Natter S. … Valenta R. (FASEB J. 1998) 2 3 4
  2. MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake. (PMID: 20693986) Perocchi F. … Mootha V.K. (Nature 2010) 2 3 4
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. (PMID: 21685886) Baughman J.M. … Mootha V.K. (Nature 2011) 3 4

Products for MICU1 Gene

  • Addgene plasmids for MICU1

Sources for MICU1 Gene

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