MTRF1 (mitochondrial translation release factor 1)

2014-08-01  

Identity

HGNC
MTRF1
LOCATION
13q14.11
LOCUSID
9617
ALIAS
MRF1,MTTRF1,RF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9617
MIM: 604601
HGNC: 7469
Ensembl: ENSG00000120662

Variants:

dbSNP: 9617
ClinVar: 9617
TCGA: ENSG00000120662
COSMIC: MTRF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120662ENST00000239852Q8N6Z2
ENSG00000120662ENST00000379477O75570
ENSG00000120662ENST00000379477A0A024RDT1
ENSG00000120662ENST00000379480O75570
ENSG00000120662ENST00000379480A0A024RDT1
ENSG00000120662ENST00000430347Q8N6Z2
ENSG00000120662ENST00000452359X6RFD4
ENSG00000120662ENST00000480434A0A087WZ41
ENSG00000120662ENST00000497679A0A087X1S1

Expression (GTEx)

0
5
10
15
20
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
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365967882023Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.6
371413702023Molecular basis of translation termination at noncanonical stop codons in human mitochondria.7
365967882023Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.6
371413702023Molecular basis of translation termination at noncanonical stop codons in human mitochondria.7
363027632022Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.4
363027632022Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.4
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
178039392007mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.61
178039392007mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.61

Citation

Dessen P

MTRF1 (mitochondrial translation release factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54479