MRPL48 (mitochondrial ribosomal protein L48)

2014-08-01  

Identity

HGNC
MRPL48
LOCATION
11q13.4
LOCUSID
51642
ALIAS
CGI-118,HSPC290,L48MT,MRP-L48
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51642
MIM: 611853
HGNC: 16653
Ensembl: ENSG00000175581

Variants:

dbSNP: 51642
ClinVar: 51642
TCGA: ENSG00000175581
COSMIC: MRPL48

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175581ENST00000310614Q96GC5
ENSG00000175581ENST00000314282F5H702
ENSG00000175581ENST00000398483F5H702
ENSG00000175581ENST00000411840F5H702
ENSG00000175581ENST00000497094A0A140TA24
ENSG00000175581ENST00000508278F5H4A2
ENSG00000175581ENST00000535277F5H1L2
ENSG00000175581ENST00000537007F5H471
ENSG00000175581ENST00000540162F5GWB4
ENSG00000175581ENST00000542303F5H8D0
ENSG00000175581ENST00000543058F5H717
ENSG00000175581ENST00000544140F5GZH8
ENSG00000175581ENST00000544819F5GZH8

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

Pathways

PathwaySourceExternal ID
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
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

MRPL48 (mitochondrial ribosomal protein L48)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54469/mrpl48