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
216858862011Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter.582
206939862010MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake.313
206939862010MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake.313
231016302012MICU1 is an essential gatekeeper for MCU-mediated mitochondrial Ca(2+) uptake that regulates cell survival.215
245609272014MICU1 and MICU2 finely tune the mitochondrial Ca2+ uniporter by exerting opposite effects on MCU activity.164
237472532013MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter.162
243361672014Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.110
245030552014MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.80
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
243328542013MICU1 motifs define mitochondrial calcium uniporter binding and activity.55

Citation

Dessen P

MICU1 (mitochondrial calcium uptake 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-09-01

Online version: http://atlasgeneticsoncology.org/gene/53510/micu1