MICU1 - mitochondrial calcium uptake 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10367

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	References	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	References	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	References	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_8

0
100
200
300
400
476 a.a.

Protein Preferred Names	Protein Names
calcium uptake protein 1, mitochondrial	atopy-related autoantigen CALC

MICU1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MICU1	Q9BPX6	MICU1	Homo sapiens	Q9BPX6	X-Ray Diffraction	24514027
Intra	MICU1	Q9BPX6	MICU2	Homo sapiens	Q8IYU8	Anti Tag CoIP	32494073
Intra	MICU1	Q9BPX6	MICU2	Homo sapiens	Q8IYU8	Anti Tag CoIP	33961781
Intra	MICU1	Q9BPX6	MCU	Homo sapiens	Q8NE86	Anti Tag CoIP	32494073
Intra	MICU1	Q9BPX6	MCU	Homo sapiens	Q8NE86	Anti Tag CoIP	23101630

Cross: Cross-species interaction Intra: Intraspecies interaction

MICU1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85734	MICU1 Antibody (YA5426)	WB, ICC/IF, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08431	MICU1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19458	Micu1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25951	Micu1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MICU1	NCBI