MTFR1 (mitochondrial fission regulator 1)

2014-11-01  

Identity

HGNC
MTFR1
LOCATION
8q13.1
LOCUSID
9650
ALIAS
CHPPR,FAM54A2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9650
HGNC: 29510
Ensembl: ENSG00000066855

Variants:

dbSNP: 9650
ClinVar: 9650
TCGA: ENSG00000066855
COSMIC: MTFR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066855ENST00000262146Q15390
ENSG00000066855ENST00000262146A0A024R7W1
ENSG00000066855ENST00000458689Q15390
ENSG00000066855ENST00000518800H0YBZ4
ENSG00000066855ENST00000521247H7C5V5
ENSG00000066855ENST00000523222E5RIB6
ENSG00000066855ENST00000527155H0YF01

Expression (GTEx)

0
5
10
15
20
25
30
35
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 2
adipose tissue
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
153895972004Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission.6
177095662007Impaired expression of genes coding for reactive oxygen species scavenging enzymes in testes of Mtfr1/Chppr-deficient mice.5
310660442019miR-324-5p protects against oxidative stress-induced endothelial progenitor cell injury by targeting Mtfr1.1
123593322002Chondrocyte protein with a poly-proline region is a novel protein expressed by chondrocytes in vitro and in vivo.0

Citation

Dessen P

MTFR1 (mitochondrial fission regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70542/mtfr1