Human Gene MICU1 (uc001jtb.2)
  Description: Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
RefSeq Summary (NM_006077): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:74,127,084-74,385,949 Size: 258,866 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr10:74,127,953-74,326,551 Size: 198,599 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:74,127,084-74,385,949)mRNA (may differ from genome)Protein (478 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MICU1
Diseases sorted by gene-association score: myopathy with extrapyramidal signs* (1369), fish allergy (9), retinitis pigmentosa, y-linked (7), dermatitis (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.80 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 745.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.80183-0.425 Picture PostScript Text
3' UTR -256.57869-0.295 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF13202 - EF hand
PF13405 - EF-hand domain
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q9BPX6-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  AK022697 - Homo sapiens cDNA FLJ12635 fis, clone NT2RM4001865, highly similar to Homo sapiens mRNA for atopy related autoantigen CALC.
BC016641 - Homo sapiens calcium binding atopy-related autoantigen 1, mRNA (cDNA clone MGC:17962 IMAGE:3919114), complete cds.
AL117423 - Homo sapiens mRNA; cDNA DKFZp564C246 (from clone DKFZp564C246).
AK225298 - Homo sapiens mRNA for calcium binding atopy-related autoantigen 1 variant, clone: HEP03393.
BC004190 - Homo sapiens calcium binding atopy-related autoantigen 1, mRNA (cDNA clone MGC:2891 IMAGE:3009677), complete cds.
BC004216 - Homo sapiens calcium binding atopy-related autoantigen 1, mRNA (cDNA clone MGC:4521 IMAGE:3009677), complete cds.
Y17711 - Homo sapiens mRNA for atopy related autoantigen CALC.
AK225695 - Homo sapiens mRNA for calcium binding atopy-related autoantigen 1 variant, clone: SYN04411.
AK296086 - Homo sapiens cDNA FLJ54794 complete cds, highly similar to Homo sapiens calcium binding atopy-related autoantigen 1 (CBARA1), mRNA.
AK023318 - Homo sapiens cDNA FLJ13256 fis, clone OVARC1000834, highly similar to Homo sapiens calcium binding atopy-related autoantigen 1 (CBARA1), mRNA.
AK298347 - Homo sapiens cDNA FLJ54801 complete cds, highly similar to Homo sapiens calcium binding atopy-related autoantigen 1 (CBARA1), mRNA.
DQ891087 - Synthetic construct clone IMAGE:100003717; FLH169226.01X; RZPDo839H1094D calcium binding atopy-related autoantigen 1 (CBARA1) gene, encodes complete protein.
KJ893016 - Synthetic construct Homo sapiens clone ccsbBroadEn_02410 MICU1 gene, encodes complete protein.
EU176543 - Synthetic construct Homo sapiens clone IMAGE:100011372; FLH169225.01L; RZPDo839D10253D calcium binding atopy-related autoantigen 1 (CBARA1) gene, encodes complete protein.
CU677655 - Synthetic construct Homo sapiens gateway clone IMAGE:100019577 5' read CBARA1 mRNA.
JD311560 - Sequence 292584 from Patent EP1572962.
JD174143 - Sequence 155167 from Patent EP1572962.
JD465107 - Sequence 446131 from Patent EP1572962.
JD170314 - Sequence 151338 from Patent EP1572962.
JD076090 - Sequence 57114 from Patent EP1572962.
JD088706 - Sequence 69730 from Patent EP1572962.
JD087921 - Sequence 68945 from Patent EP1572962.
JD350031 - Sequence 331055 from Patent EP1572962.
JD251208 - Sequence 232232 from Patent EP1572962.
JD288062 - Sequence 269086 from Patent EP1572962.
JD226508 - Sequence 207532 from Patent EP1572962.
JD527735 - Sequence 508759 from Patent EP1572962.
JD163974 - Sequence 144998 from Patent EP1572962.
JD215112 - Sequence 196136 from Patent EP1572962.
JD096253 - Sequence 77277 from Patent EP1572962.
JD563192 - Sequence 544216 from Patent EP1572962.
JD264431 - Sequence 245455 from Patent EP1572962.
JD278304 - Sequence 259328 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BPX6 (Reactome details) participates in the following event(s):

R-HSA-8953461 SMDT1 assists in assembling MCU, MCUB, MICU1, MICU2 (or MICU3) yielding the MCU complex
R-HSA-8949178 MCU translocates calcium from the mitochondrial intermembrane space to the mitochondrial matrix
R-HSA-8949664 Processing of SMDT1
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: CALC, CBARA1, NM_006077, NP_006068, Q9BPX6-3
UCSC ID: uc001jtb.2
RefSeq Accession: NM_006077
Protein: Q9BPX6-3, splice isoform of Q9BPX6 CCDS: CCDS55715.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006077.3
exon count: 12CDS single in 3' UTR: no RNA size: 2506
ORF size: 1431CDS single in intron: no Alignment % ID: 99.88
txCdsPredict score: 2945.00frame shift in genome: no % Coverage: 99.08
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.