MTRF1L (mitochondrial translation release factor 1 like)

2014-11-01  

Identity

HGNC
MTRF1L
LOCATION
6q25.2
LOCUSID
54516
ALIAS
HMRF1L,MRF1L,mtRF1a

Other Information

Locus ID:

NCBI: 54516
MIM: 613542
HGNC: 21051
Ensembl: ENSG00000112031

Variants:

dbSNP: 54516
ClinVar: 54516
TCGA: ENSG00000112031
COSMIC: MTRF1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112031ENST00000367230Q9UGC7
ENSG00000112031ENST00000367231Q9UGC7
ENSG00000112031ENST00000367233Q9UGC7
ENSG00000112031ENST00000414771X6RKB4
ENSG00000112031ENST00000448966Q5TF45

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

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation terminationREACTOMER-HSA-5419276

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD
PA452229antidepressantsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
178039392007mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.38
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
184298162008HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.15
185411452008The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.9

Citation

Dessen P

MTRF1L (mitochondrial translation release factor 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70565/mtrf1l