MICU1 - mitochondrial calcium uptake 1 Gene

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

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

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		/	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

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