CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4)

2014-01-01  

Identity

HGNC
CHCHD4
LOCATION
3p25.1
LOCUSID
131474
ALIAS
MIA40,TIMM40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 131474
MIM: 611077
HGNC: 26467
Ensembl: ENSG00000163528

Variants:

dbSNP: 131474
ClinVar: 131474
TCGA: ENSG00000163528
COSMIC: CHCHD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163528ENST00000295767Q8N4Q1
ENSG00000163528ENST00000295767A0A024R2F8
ENSG00000163528ENST00000396914Q8N4Q1
ENSG00000163528ENST00000396914A0A024R2I5

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
260042282015Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.47
213831382011Molecular recognition and substrate mimicry drive the electron-transfer process between MIA40 and ALR.41
161857092005Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space.32
222148512012Human CHCHD4 mitochondrial proteins regulate cellular oxygen consumption rate and metabolism and provide a critical role in hypoxia signaling and tumor progression.30
236766652013Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells.30
241015172013Mitochondrial disulfide relay mediates translocation of p53 and partitions its subcellular activity.29
193973382009Augmenter of liver regeneration: substrate specificity of a flavin-dependent oxidoreductase from the mitochondrial intermembrane space.26
173363032007The sulfhydryl oxidase Erv1 is a substrate of the Mia40-dependent protein translocation pathway.24
187793292008Mitochondrial biogenesis, switching the sorting pathway of the intermembrane space receptor Mia40.22
261585202015Loss of apoptosis-inducing factor critically affects MIA40 function.22

Citation

Dessen P

CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53675/chchd4-(coiled-coil-helix-coiled-coil-helix-domain-containing-4)