MCUR1: Mitochondrial Calcium Uniporter Regulator 1
A key regulator of mitochondrial calcium uptake and cellular metabolism
Gene Information Card
| Symbol | MCUR1 |
|---|---|
| Full Name | Mitochondrial Calcium Uniporter Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p23 |
| NCBI Gene ID | 130733 ncbi.nlm.nih.gov/gene/130733 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q96AQ6 |
| OMIM ID | 614539 |
| HGNC ID | 26723 |
| Aliases | CCDC90A, FLJ11184 |
Description
MCUR1 (Mitochondrial Calcium Uniporter Regulator 1) encodes a transmembrane protein localized to the inner mitochondrial membrane. It is a critical component of the mitochondrial calcium uniporter (MCU) complex, facilitating mitochondrial calcium uptake. MCUR1 is essential for oxidative phosphorylation, cellular energy metabolism, and apoptosis regulation. Loss of MCUR1 impairs mitochondrial calcium influx, leading to reduced ATP production and altered cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial calcium uptake defect | Impaired MCU complex assembly due to MCUR1 deficiency reduces mitochondrial Ca2+ influx, disrupting energy metabolism | PMID: 23101630 |
| Hepatocellular carcinoma | MCUR1 overexpression promotes mitochondrial Ca2+ uptake, enhancing oxidative phosphorylation and tumor growth | PMID: 26095851 |
| Cardiac hypertrophy | MCUR1-mediated mitochondrial Ca2+ overload contributes to cardiomyocyte dysfunction and hypertrophy | PMID: 28970238 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Brain | 6.3 | Low |
| Skeletal Muscle | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HepG2 | 14.8 | High expression |
| HeLa | 11.2 | Medium expression |
| MCF7 | 9.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.287C>T (p.Pro96Leu) | Missense | 0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Impaired mitochondrial calcium uptake, reduced ATP production, increased susceptibility to apoptosis
Gain of Function (GOF)
Enhanced mitochondrial calcium overload, oxidative stress, potential tumorigenesis
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial calcium ion transport (GO:0006851) | • ATP synthesis coupled electron transport (GO:0042773) |
| • apoptotic process (GO:0006915) |
Pathways
• Mitochondrial calcium uniporter complex (Reactome: R-HSA-8949215)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
MCUR1 is a 40 kDa transmembrane protein with a coiled-coil domain (CCDC90A). It localizes to the inner mitochondrial membrane and interacts with the MCU complex to regulate mitochondrial calcium uptake. The protein is essential for maintaining mitochondrial membrane potential and ATP synthesis. MCUR1 expression is elevated in metabolically active tissues and certain cancers, where it supports enhanced oxidative metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCUR1 Knockout HEK293 Cell Line | EDJ-KQ11980 | Human | 63933 | Details Get a Quote |
| MCUR1 Knockout A-549 Cell Line | EDJ-KQ40540 | Human | 63933 | Details Get a Quote |
| MCUR1 Knockout HCT 116 Cell Line | EDJ-KQ40541 | Human | 63933 | Details Get a Quote |
| MCUR1 Knockout HeLa Cell Line | EDJ-KQ40542 | Human | 63933 | Details Get a Quote |
