MICU1 Gene Summary [Human]

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]

Details

Type
Nonsense Mediated Decay
Official Symbol
MICU1
Official Name
mitochondrial calcium uptake 1 [Source:HGNC Symbol;Acc:HGNC:1530]
Ensembl ID
ENSG00000107745
Bio databases IDs NCBI: 10367 Ensembl: ENSG00000107745
Aliases mitochondrial calcium uptake 1
Synonyms ara CALC, C730016L05Rik, CALC, CBARA1, EFHA3, LOC100360636, LOC100360686, LOC100362065, mitochondrial calcium uptake 1, MPXPS
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MICU1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • EF-hand, calcium binding motif
  • calcium channel inhibitor
  • EF hand
  • calcium ion binding
  • protein binding
  • EFh_MICU
  • identical protein binding
  • calcium channel regulator
  • protein heterodimerization

Pathways

Biological processes and signaling networks where the MICU1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • sarcoidosis
  • myopathy with extrapyramidal signs
  • Parkinson disease with dementia
  • hereditary disorder
  • neurodevelopmental disorder
  • mitochondrial disorder
  • refractive error
regulated by
regulates
role in cell
  • expression in
  • activation in
  • proliferation
  • ferroptosis
  • response by
  • transport in
  • stabilization in
  • peroxidation in
  • handling in
  • Gap 0-Gap 1 phase

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial membrane
  • mitochondrial intermembrane space
  • mitochondrial inner membrane
  • organelle membrane contact site

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MICU1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • calcium ion import
  • elevation of mitochondrial calcium ion concentration
  • mitochondrial calcium ion homeostasis
  • protein homooligomerization
  • regulation of cellular hyperosmotic salinity response
  • defense response
  • mitochondrial calcium ion transport

Cellular Component

Where in the cell the gene product is active
  • mitochondrial intermembrane space
  • calcium channel complex
  • mitochondrial membrane
  • mitochondrial crista junction
  • mitochondrion
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • protein heterodimerization activity
  • calcium ion binding
  • calcium channel inhibitor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.