MCUR1
Mitochondrial calcium uniporter regulator 1
Also known as: C6orf79, CCDC90A, FLJ20958, MCUR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96AQ8
- Gene
- MCUR1
- Ensembl
- ENSG00000050393
- Chromosome
- 6
- Canonical length
- 359 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
Involved in calcium import into the mitochondrion; calcium ion import; and positive regulation of mitochondrial calcium ion concentration. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2025]
Canonical amino-acid sequenceUniProt
359 residues, UniProt reviewed canonical sequence.
>Q96AQ8|MCUR1
1 MDCGSVGGQR TQRLPGRQRL LFLPVGLSGR PGGSETSARR CLSALSDGLG ALRPRAPAAR
61 GGVSRASPLL LLLLVPSPRL AAAAPRRQLG DWERSRLGYA APPAGRSSAW RCSPGVAAAA
121 GALPQYHGPA PALVSCRREL SLSAGSLQLE RKRRDFTSSG SRKLYFDTHA LVCLLEDNGF
181 ATQQAEIIVS ALVKILEANM DIVYKDMVTK MQQEITFQQV MSQIANVKKD MIILEKSEFS
241 ALRAENEKIK LELHQLKQQV MDEVIKVRTD TKLDFNLEKS RVKELYSLNE KKLLELRTEI
301 VALHAQQDRA LTQTDRKIET EVAGLKTMLE SHKLDNIKYL AGSIFTCLTV ALGFYRLWILocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCUR1 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
- 2
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 76 nTPM
Expression across tissuesHPA
Tissue
- retina: 76 nTPM
- kidney: 21 nTPM
- cerebral cortex: 18 nTPM
- midbrain: 18 nTPM
- skeletal muscle: 18 nTPM
- duodenum: 18 nTPM
Single-cell type
- esophageal apical cells: 639 nCPM
- rod photoreceptor cells: 517 nCPM
- platelets: 317 nCPM
- breast lactating cells: 239 nCPM
- megakaryocytes: 192 nCPM
- enterocytes: 181 nCPM
Immune cell
- basophil: 4.2 nTPM
- myeloid DC: 3.2 nTPM
- total PBMC: 2.9 nTPM
- memory CD8 T-cell: 2.2 nTPM
- memory CD4 T-cell: 2.1 nTPM
- plasmacytoid DC: 2 nTPM
Brain region
- thalamus: 20 nTPM
- cerebral cortex: 20 nTPM
- pons: 19 nTPM
- hypothalamus: 18 nTPM
- midbrain: 17 nTPM
- basal ganglia: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MCUR1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 66 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Wolff-Parkinson-White pattern
- Highly elevated creatine kinase
- Pes cavus
- Muscular atrophy
- Skeletal myopathy
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)
- 1.23
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.24
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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
- cell migration
- cell population proliferation
- establishment of localization in cell
- generation of precursor metabolites and energy
- mitochondrial calcium ion transmembrane transport
- positive regulation of mitochondrial calcium ion concentration
- protein heterooligomerization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MCUR1 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 MCUR1 as an antibody target. Whether an autoantibody or antibody against MCUR1 could matter depends on whether native MCUR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCUR1 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 MCUR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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