InnateDB Protein
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IDBP-232236.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MICU1
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Protein Name
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mitochondrial calcium uptake 1
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Synonyms
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CALC; CBARA1; EFHA3; MPXPS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000381747
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InnateDB Gene
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IDBG-77896 (MICU1)
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Protein Structure
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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. {ECO:0000269PubMed:16002733, ECO:0000269PubMed:20693986, ECO:0000269PubMed:22904319, ECO:0000269PubMed:23101630, ECO:0000269PubMed:23747253, ECO:0000269PubMed:24313810, ECO:0000269PubMed:24332854, ECO:0000269PubMed:24503055, ECO:0000269PubMed:24560927}.
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Subcellular Localization |
Mitochondrion inner membrane; Peripheral membrane protein. Mitochondrion intermembrane space. Note=Localizes at the outer surface of the mitochondrion inner membrane.
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Disease Associations |
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:0000269PubMed: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:0000269PubMed:24336167}.
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Tissue Specificity |
Expressed in epithelial cell lines. Strongly expressed in epidermal keratinocytes and dermal endothelial cells. {ECO:0000269PubMed:16002733, ECO:0000269PubMed:9806765}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BPX6
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PhosphoSite |
PhosphoSite-Q9BPX6
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10367
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UniGene |
Hs.597970
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RefSeq |
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HUGO |
HGNC:1530
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OMIM |
605084
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CCDS |
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HPRD |
05471
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IMGT |
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EMBL |
AC091769
AK022697
AK023318
AK296086
AK298347
AL117423
AL356009
AL513185
BC004190
BC004216
BC016641
CH471083
Y17711
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GenPept |
AAH04190
AAH04216
AAH16641
BAB14187
BAG51182
BAG58841
BAG60593
CAA76830
CAB55915
CAI12376
EAW54459
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