Gene
MICU1
mitochondrial calcium uptake 1
- HGNC 1530↗(opens in a new tab)
- Ensembl gene ENSG00000107745↗(opens in a new tab)
- NCBI Gene 10367↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q22.1
- Coordinates
- Chromosome 10: 72,367,340–72,626,079 (GRCh38)
- Exons
- 12 exons across 258.7 kb
- Protein
- 476 amino acids
- Also known as
- CALC, EFHA3, FLJ12684
- Previous symbols
- CBARA1
- MANE Select transcript
- ENST00000361114.10NM_001195518.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads MICU1 yet. The test sequences your whole genome, so your data includes it all the same.
How MICU1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 258.7 kb; 1,431 of those bases code for the protein.
How a genome test reads MICU1
15
positions in MICU1 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (6.7%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 258.7 kb of MICU1, introns included, not only the 2.4 kb of exons.
Traits linked to MICU1
The Human Phenotype Ontology lists these as features of the rare conditions MICU1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Cerebellar dysplasia
- Clonus
- Clumsiness
- Delayed speech and language development
- Encephalomalacia
- Global developmental delay
- Hypoplastic anterior limbs of the internal capsule
Show 18 more traits
- Motor delay
- Perisylvian polymicrogyria
- Repeated seizures without recovery between them
- Specific learning disability
- Abnormal basal ganglia MRI signal intensity
- Abnormal gait
- Abnormality of extrapyramidal motor function
- Chorea
- Dystonia
- Epilepsy
- Involuntary movements
- Orofacial dyskinesia
- Progressive extrapyramidal movement disorder
- Resting tremor
- Tremor
- Choreoathetosis
- More active than typical
- Peripheral axonal neuropathy
Abnormality of the musculoskeletal system
- Proximal neurogenic muscle weakness
- Central core regions in muscle fibers
- Centrally nucleated skeletal muscle fibers
- Difficulty running
- Increased variability in muscle fiber diameter
- Low muscle tone
- Muscle spasm
- Progressive extrapyramidal muscular rigidity
Show 4 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MICU1 gene: mitochondrial calcium uptake 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/micu1
Dante Labs. MICU1 gene: mitochondrial calcium uptake 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/micu1
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