CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

2014-08-01  

Identity

HGNC
LOCATION
7q32.3
LOCUSID
ALIAS
MICOS19,MINOS3,Mic19,PPP1R22
FUSION GENES

Other Information

Locus ID:

NCBI: 54927
MIM: 613748
HGNC: 21906
Ensembl: ENSG00000106554

Variants:

dbSNP: 54927
ClinVar: 54927
TCGA: ENSG00000106554
COSMIC: CHCHD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106554ENST00000262570Q9NX63
ENSG00000106554ENST00000262570A4D1N4
ENSG00000106554ENST00000423635F8WAR4
ENSG00000106554ENST00000448878C9JRZ6
ENSG00000106554ENST00000481152A0A286YEX5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
310977882020Sam50-Mic19-Mic60 axis determines mitochondrial cristae architecture by mediating mitochondrial outer and inner membrane contact.40
327883602020Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.35
310977882020Sam50-Mic19-Mic60 axis determines mitochondrial cristae architecture by mediating mitochondrial outer and inner membrane contact.40
327883602020Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.35
288080852017Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.17
288080852017Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.17
264168812015The Oxidation Status of Mic19 Regulates MICOS Assembly.20
264168812015The Oxidation Status of Mic19 Regulates MICOS Assembly.20
230193272012Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.35
230193272012Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.35
210815042011ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.157
210815042011ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.157
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54214/img/css/js/lib/bootstrap.min.js