CMC1 (C-X9-C motif containing 1)

2014-08-01  

Identity

HGNC
CMC1
LOCATION
3p24.1
LOCUSID
152100
ALIAS
C3orf68
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 152100
MIM: 615166
HGNC: 28783
Ensembl: ENSG00000187118

Variants:

dbSNP: 152100
ClinVar: 152100
TCGA: ENSG00000187118
COSMIC: CMC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187118ENST00000334841F8WAC1
ENSG00000187118ENST00000423894C9JES7
ENSG00000187118ENST00000466830Q7Z7K0

Expression (GTEx)

0
5
10
15
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

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
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
280823142017A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.38
280823142017A CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.38
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

CMC1 (C-X9-C motif containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54221/gene-explorer/css/case-report-explorer/