MRPL13 (mitochondrial ribosomal protein L13)

2018-02-01  

Identity

HGNC
MRPL13
LOCATION
8q24.12
LOCUSID
28998
ALIAS
L13,L13A,L13mt,RPL13,RPML13

Other Information

Locus ID:

NCBI: 28998
MIM: 610200
HGNC: 14278
Ensembl: ENSG00000172172

Variants:

dbSNP: 28998
ClinVar: 28998
TCGA: ENSG00000172172
COSMIC: MRPL13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172172ENST00000306185Q9BYD1
ENSG00000172172ENST00000518696E5RFI2
ENSG00000172172ENST00000518918E5RJI7
ENSG00000172172ENST00000521648H0YAX3

Expression (GTEx)

0
10
20
30
40
50
60
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
189958352008DAPK-ZIPK-L13a axis constitutes a negative-feedback module regulating inflammatory gene expression.64
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
289786462017Lactate-mediated mitoribosomal defects impair mitochondrial oxidative phosphorylation and promote hepatoma cell invasiveness.6

Citation

Dessen P

MRPL13 (mitochondrial ribosomal protein L13)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57336/mrpl13