MICU1
Calcium uptake protein 1, mitochondrial
Also known as: CALC, CBARA1, EFHA3, FLJ12684, MICU1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BPX6
- Gene
- MICU1
- Ensembl
- ENSG00000107745
- Chromosome
- 10
- Canonical length
- 476 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Mitochondria
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
476 residues, UniProt reviewed canonical sequence.
>Q9BPX6|MICU1
1 MFRLNSLSAL AELAVGSRWY HGGSQPIQIR RRLMMVAFLG ASAVTASTGL LWKRAHAESP
61 PCVDNLKSDI GDKGKNKDEG DVCNHEKKTA DLAPHPEEKK KKRSGFRDRK VMEYENRIRA
121 YSTPDKIFRY FATLKVISEP GEAEVFMTPE DFVRSITPNE KQPEHLGLDQ YIIKRFDGKK
181 ISQEREKFAD EGSIFYTLGE CGLISFSDYI FLTTVLSTPQ RNFEIAFKMF DLNGDGEVDM
241 EEFEQVQSII RSQTSMGMRH RDRPTTGNTL KSGLCSALTT YFFGADLKGK LTIKNFLEFQ
301 RKLQHDVLKL EFERHDPVDG RITERQFGGM LLAYSGVQSK KLTAMQRQLK KHFKEGKGLT
361 FQEVENFFTF LKNINDVDTA LSFYHMAGAS LDKVTMQQVA RTVAKVELSD HVCDVVFALF
421 DCDGNGELSN KEFVSIMKQR LMRGLEKPKD MGFTRLMQAM WKCAQETAWD FALPKQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MICU1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 109 nTPM
Expression across tissuesHPA
Tissue
- liver: 109 nTPM
- kidney: 98 nTPM
- cerebellum: 84 nTPM
- tongue: 72 nTPM
- skeletal muscle: 70 nTPM
- adrenal gland: 52 nTPM
Single-cell type
- myonuclei: 860 nCPM
- neutrophils: 624 nCPM
- neutrophil progenitors: 481 nCPM
- foveolar cells: 419 nCPM
- brain excitatory neurons: 325 nCPM
- proximal tubule cells: 286 nCPM
Immune cell
- eosinophil: 112 nTPM
- classical monocyte: 60 nTPM
- non-classical monocyte: 55 nTPM
- intermediate monocyte: 50 nTPM
- neutrophil: 50 nTPM
- total PBMC: 35 nTPM
Brain region
- cerebellum: 93 nTPM
- hippocampal formation: 64 nTPM
- cerebral cortex: 64 nTPM
- basal ganglia: 59 nTPM
- pons: 57 nTPM
- amygdala: 55 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MICU1.
Disease | AllUniProt
Conditions MICU1 is implicated in, by any mechanism.
- Myopathy with extrapyramidal signs (MPXPS) MIM:615673
Disease | GeneticClinVar
42 pathogenic / likely-pathogenic of 344 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Proximal myopathy with extrapyramidal signs
- Neurodevelopmental disorder
- Inborn genetic diseases
- MICU1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.29
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.65
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium import into the mitochondrion
- calcium ion import
- cellular response to calcium ion
- cellular response to calcium ion starvation
- defense response
- mitochondrial calcium ion homeostasis
- mitochondrial calcium ion transmembrane transport
- positive regulation of cristae formation
- positive regulation of mitochondrial calcium ion concentration
- protein homooligomerization
- regulation of cellular hyperosmotic salinity response
Molecular functions
- calcium channel inhibitor activity
- calcium ion binding
- calcium ion sensor activity
- identical protein binding
- protein heterodimerization activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MICU1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MICU1 as an antibody target. Whether an autoantibody or antibody against MICU1 could matter depends on whether native MICU1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MICU1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MICU1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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