MRPL3 (mitochondrial ribosomal protein L3)

2014-11-01  

Identity

HGNC
MRPL3
LOCATION
3q22.1
LOCUSID
11222
ALIAS
COXPD9,MRL3,RPML3

Other Information

Locus ID:

NCBI: 11222
MIM: 607118
HGNC: 10379
Ensembl: ENSG00000114686

Variants:

dbSNP: 11222
ClinVar: 11222
TCGA: ENSG00000114686
COSMIC: MRPL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114686ENST00000264995P09001
ENSG00000114686ENST00000425847E7ETU7
ENSG00000114686ENST00000507669D6RC14
ENSG00000114686ENST00000510154D6RBQ5
ENSG00000114686ENST00000511168H0Y9G6
ENSG00000114686ENST00000512877E9PF06

Expression (GTEx)

0
50
100
150
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
RibosomeKEGGko03010
RibosomeKEGGhsa03010
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation initiationREACTOMER-HSA-5368286
Mitochondrial translation elongationREACTOMER-HSA-5389840
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

References

Pubmed IDYearTitleCitations
225072402012Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.3
225072402012Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.3
217863662011Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.71
217863662011Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.71
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

MRPL3 (mitochondrial ribosomal protein L3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70449