MICU1 (mitochondrial calcium uptake 1)

2013-09-01  

Identity

HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
CALC,CBARA1,EFHA3,MPXPS,ara
FUSION GENES

Other Information

Locus ID:

NCBI: 10367
MIM: 605084
HGNC: 1530
Ensembl: ENSG00000107745

Variants:

dbSNP: 10367
ClinVar: 10367
TCGA: ENSG00000107745
COSMIC: MICU1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107745ENST00000361114Q9BPX6
ENSG00000107745ENST00000398761F6XEV2
ENSG00000107745ENST00000398763Q9BPX6
ENSG00000107745ENST00000418483Q9BPX6
ENSG00000107745ENST00000476605E9PQV6
ENSG00000107745ENST00000489666S4R3W3
ENSG00000107745ENST00000603011S4R3D7
ENSG00000107745ENST00000604238S4R3V1
ENSG00000107745ENST00000635239A0A0U1RRK1
ENSG00000107745ENST00000642044A0A286YF11

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
352696582022The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.2
353028602022Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.16
362067402022Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.11
352696582022The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.2
353028602022Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.16
362067402022Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.11
334283022021Molecular pathophysiology of human MICU1 deficiency.14
334283022021Molecular pathophysiology of human MICU1 deficiency.14
323173692020Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.41
326672852020Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.33
327909522020The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.16
332966462020Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.12
323173692020Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.41
326672852020Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.33
327909522020The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.16

Citation

Dessen P

MICU1 (mitochondrial calcium uptake 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-09-01

Online version: http://atlasgeneticsoncology.org/gene/53510/micu1-(mitochondrial-calcium-uptake-1)