2. Gene
  3. MICU1 - mitochondrial calcium uptake 1 Gene

MICU1 - mitochondrial calcium uptake 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CALC; EFHA3; MPXPS; CBARA1; ara CALC

Gene ID: 10367 | Gene type: protein coding

About MICU1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:72,367,340-72,626,079 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 30.5), adrenal (RPKM 20.9) and 25 other tissues.

Summary

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]

MICU1 Products(4)

mRNA Protein Name
NM_001195518.2 NP_001182447.1 calcium uptake protein 1, mitochondrial isoform 2
NM_001195519.2 NP_001182448.1 calcium uptake protein 1, mitochondrial isoform 3
NM_001363513.2 NP_001350442.1 calcium uptake protein 1, mitochondrial isoform 4
NM_006077.4 NP_006068.2 calcium uptake protein 1, mitochondrial isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium channel inhibitor activity IDA
IDA: Inferred from direct assay
32494073 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
23101630 GOA
enables calcium ion sensor activity IDA
IDA: Inferred from direct assay
27642082 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
24514027 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21685886 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
24560927 GOA
Biological Process GO Annotation Evidence Reference Source
involved in calcium import into the mitochondrion IDA
IDA: Inferred from direct assay
27642082 GOA
involved in calcium import into the mitochondrion IMP
IMP: Inferred from mutant phenotype
26903221 GOA
involved in calcium ion import IDA
IDA: Inferred from direct assay
20693986 GOA
involved in cellular response to calcium ion IDA
IDA: Inferred from direct assay
32494073 GOA
involved in cellular response to calcium ion starvation IDA
IDA: Inferred from direct assay
32494073 GOA
involved in mitochondrial calcium ion homeostasis IDA
IDA: Inferred from direct assay
32494073 GOA
involved in mitochondrial calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
20693986 GOA
involved in mitochondrial calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
24560927 GOA
involved in mitochondrial calcium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
23101630 GOA
involved in positive regulation of cristae formation IDA
IDA: Inferred from direct assay
31427612 GOA
involved in positive regulation of mitochondrial calcium ion concentration IDA
IDA: Inferred from direct assay
24560927 GOA
involved in positive regulation of mitochondrial calcium ion concentration IMP
IMP: Inferred from mutant phenotype
26975899 GOA
involved in protein homooligomerization IDA
IDA: Inferred from direct assay
24514027 GOA
involved in regulation of cellular hyperosmotic salinity response IMP
IMP: Inferred from mutant phenotype
26975899 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial crista junction IDA
IDA: Inferred from direct assay
31427612 GOA
is active in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28615291 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
20693986 GOA
located in mitochondrial inner membrane IMP
IMP: Inferred from mutant phenotype
27099988 GOA
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
24231807 GOA
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
23101630 GOA
is active in mitochondrion IDA
IDA: Inferred from direct assay
27642082 GOA
part of uniplex complex IDA
IDA: Inferred from direct assay
24231807 GOA
part of uniplex complex IPI
IPI: Inferred from physical interaction
32494073 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MICU1 Protein Structure

EF-hand_5

EF-hand_5: EF hand (226 - 246)

EF-hand_8

EF-hand_8: EF-hand domain pair (397 - 439)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
Protein Preferred Names Protein Names

calcium uptake protein 1, mitochondrial

atopy-related autoantigen CALC

Related Diseases

Diseases Alias
Myopathy With Extrapyramidal Signs

Proximal Myopathy With Extrapyramidal Signs

MPXPS

Myopathy, With Extrapyramidal Signs
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Paranasal Sinus Sarcoma

Sarcoma Of Accessory Sinus
Retinitis Pigmentosa 40

RP40

Retinitis Pigmentosa-40

Retinitis Pigmentosa, Type 40
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Myopathy

Muscular Diseases

Myopathies
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08431 MICU1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MICU1 VGNC VGNC:43220
Felis catus MICU1 VGNC VGNC:63494
Rattus norvegicus MICU1 RGD RGD:735033
Bos taurus MICU1 VGNC VGNC:31461
Macaca mulatta MICU1 VGNC VGNC:106073
Mus musculus MICU1 MGD MGI:2384909