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MICU1 (mitochondrial calcium uptake 1)

Identity

Alias_namesCBARA1
calcium binding atopy-related autoantigen 1
Alias_symbol (synonym)CALC
EFHA3
FLJ12684
Other aliasMPXPS
HGNC (Hugo) MICU1
LocusID (NCBI) 10367
Atlas_Id 53510
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 72367326 and ends at 72626191 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANAPC16 (10q22.1) / MICU1 (10q22.1)ASCC1 (10q22.1) / MICU1 (10q22.1)MICU1 (10q22.1) / ARHGAP22 (10q11.22)
MICU1 (10q22.1) / TSPAN3 (15q24.3)TACC2 (10q26.13) / MICU1 (10q22.1)ANAPC16 10q22.1 / MICU1 10q22.1
ASCC1 10q22.1 / MICU1 10q22.1MICU1 10q22.1 / ARHGAP22 10q11.22MICU1 10q22.1 / TSPAN3 15q24.3
TACC2 10q26.13 / MICU1 10q22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MICU1   1530
Cards
Entrez_Gene (NCBI)MICU1  10367  mitochondrial calcium uptake 1
AliasesCALC; CBARA1; EFHA3; MPXPS
GeneCards (Weizmann)MICU1
Ensembl hg19 (Hinxton)ENSG00000107745 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107745 [Gene_View]  chr10:72367326-72626191 [Contig_View]  MICU1 [Vega]
ICGC DataPortalENSG00000107745
TCGA cBioPortalMICU1
AceView (NCBI)MICU1
Genatlas (Paris)MICU1
WikiGenes10367
SOURCE (Princeton)MICU1
Genetics Home Reference (NIH)MICU1
Genomic and cartography
GoldenPath hg38 (UCSC)MICU1  -     chr10:72367326-72626191 -  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MICU1  -     10q22.1   [Description]    (hg19-Feb_2009)
EnsemblMICU1 - 10q22.1 [CytoView hg19]  MICU1 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIMICU1 [Mapview hg19]  MICU1 [Mapview hg38]
OMIM605084   615673   
Gene and transcription
Genbank (Entrez)AK022697 AK023318 AK225298 AK225695 AK296086
RefSeq transcript (Entrez)NM_001195518 NM_001195519 NM_006077
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MICU1
Cluster EST : UnigeneHs.524367 [ NCBI ]
CGAP (NCI)Hs.524367
Alternative Splicing GalleryENSG00000107745
Gene ExpressionMICU1 [ NCBI-GEO ]   MICU1 [ EBI - ARRAY_EXPRESS ]   MICU1 [ SEEK ]   MICU1 [ MEM ]
Gene Expression Viewer (FireBrowse)MICU1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10367
GTEX Portal (Tissue expression)MICU1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BPX6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BPX6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BPX6
Splice isoforms : SwissVarQ9BPX6
PhosPhoSitePlusQ9BPX6
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_5 (PF13202)    EF-hand_8 (PF13833)   
Domain families : Pfam (NCBI)pfam13202    pfam13833   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)MICU1
DMDM Disease mutations10367
Blocks (Seattle)MICU1
PDB (SRS)4NSC    4NSD   
PDB (PDBSum)4NSC    4NSD   
PDB (IMB)4NSC    4NSD   
PDB (RSDB)4NSC    4NSD   
Structural Biology KnowledgeBase4NSC    4NSD   
SCOP (Structural Classification of Proteins)4NSC    4NSD   
CATH (Classification of proteins structures)4NSC    4NSD   
SuperfamilyQ9BPX6
Human Protein AtlasENSG00000107745
Peptide AtlasQ9BPX6
HPRD05471
IPIIPI00872133   IPI00888290   IPI00295598   IPI00914052   IPI00909493   IPI00873942   IPI00981358   
Protein Interaction databases
DIP (DOE-UCLA)Q9BPX6
IntAct (EBI)Q9BPX6
FunCoupENSG00000107745
BioGRIDMICU1
STRING (EMBL)MICU1
ZODIACMICU1
Ontologies - Pathways
QuickGOQ9BPX6
Ontology : AmiGOcalcium ion binding  protein binding  intracellular  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial intermembrane space  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  defense response  integral component of mitochondrial membrane  calcium channel complex  mitochondrial calcium uptake  identical protein binding  protein heterodimerization activity  protein homooligomerization  mitochondrial calcium ion homeostasis  positive regulation of mitochondrial calcium ion concentration  calcium ion import  uniplex complex  
Ontology : EGO-EBIcalcium ion binding  protein binding  intracellular  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial intermembrane space  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  defense response  integral component of mitochondrial membrane  calcium channel complex  mitochondrial calcium uptake  identical protein binding  protein heterodimerization activity  protein homooligomerization  mitochondrial calcium ion homeostasis  positive regulation of mitochondrial calcium ion concentration  calcium ion import  uniplex complex  
NDEx NetworkMICU1
Atlas of Cancer Signalling NetworkMICU1
Wikipedia pathwaysMICU1
Orthology - Evolution
OrthoDB10367
GeneTree (enSembl)ENSG00000107745
Phylogenetic Trees/Animal Genes : TreeFamMICU1
HOVERGENQ9BPX6
HOGENOMQ9BPX6
Homologs : HomoloGeneMICU1
Homology/Alignments : Family Browser (UCSC)MICU1
Gene fusions - Rearrangements
Fusion : MitelmanANAPC16/MICU1 [10q22.1/10q22.1]  [t(10;10)(q22;q22)]  
Fusion : MitelmanASCC1/MICU1 [10q22.1/10q22.1]  [t(10;10)(q22;q22)]  
Fusion : MitelmanMICU1/ARHGAP22 [10q22.1/10q11.22]  [t(10;10)(q11;q22)]  
Fusion : MitelmanMICU1/TSPAN3 [10q22.1/15q24.3]  [t(10;15)(q22;q24)]  
Fusion : MitelmanTACC2/MICU1 [10q26.13/10q22.1]  [t(10;10)(q22;q26)]  
Fusion: TCGAANAPC16 10q22.1 MICU1 10q22.1 BRCA
Fusion: TCGAASCC1 10q22.1 MICU1 10q22.1 BRCA HNSC
Fusion: TCGAMICU1 10q22.1 ARHGAP22 10q11.22 BRCA
Fusion: TCGAMICU1 10q22.1 TSPAN3 15q24.3 BRCA
Fusion: TCGATACC2 10q26.13 MICU1 10q22.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMICU1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MICU1
dbVarMICU1
ClinVarMICU1
1000_GenomesMICU1 
Exome Variant ServerMICU1
ExAC (Exome Aggregation Consortium)MICU1 (select the gene name)
Genetic variants : HAPMAP10367
Genomic Variants (DGV)MICU1 [DGVbeta]
DECIPHERMICU1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMICU1 
Mutations
ICGC Data PortalMICU1 
TCGA Data PortalMICU1 
Broad Tumor PortalMICU1
OASIS PortalMICU1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMICU1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MICU1
DgiDB (Drug Gene Interaction Database)MICU1
DoCM (Curated mutations)MICU1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MICU1 (select a term)
intoGenMICU1
Cancer3DMICU1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605084    615673   
Orphanet22825   
MedgenMICU1
Genetic Testing Registry MICU1
NextProtQ9BPX6 [Medical]
TSGene10367
GENETestsMICU1
Target ValidationMICU1
Huge Navigator MICU1 [HugePedia]
snp3D : Map Gene to Disease10367
BioCentury BCIQMICU1
ClinGenMICU1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10367
Chemical/Pharm GKB GenePA26110
Clinical trialMICU1
Miscellaneous
canSAR (ICR)MICU1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMICU1
EVEXMICU1
GoPubMedMICU1
iHOPMICU1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:43:01 CEST 2017

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