MRPL43 (mitochondrial ribosomal protein L43)

2014-11-01  

Identity

HGNC
MRPL43
LOCATION
10q24.31
LOCUSID
84545
ALIAS
L43mt,MRP-L43,bMRP36a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84545
MIM: 611848
HGNC: 14517
Ensembl: ENSG00000055950

Variants:

dbSNP: 84545
ClinVar: 84545
TCGA: ENSG00000055950
COSMIC: MRPL43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055950ENST00000299179Q8N983
ENSG00000055950ENST00000318325Q8N983
ENSG00000055950ENST00000318364Q8N983
ENSG00000055950ENST00000342071Q8N983
ENSG00000055950ENST00000370234Q8N983
ENSG00000055950ENST00000370236Q8N983
ENSG00000055950ENST00000370241B1AL05
ENSG00000055950ENST00000370242Q8N983
ENSG00000055950ENST00000448244H0Y6Y8
ENSG00000055950ENST00000477279M0R051
ENSG00000055950ENST00000523148H0YBU8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

References

Pubmed IDYearTitleCitations
356592402022Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene.1
357657612022Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.1
356592402022Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene.1
357657612022Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.1
331470642020miR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression.6
331470642020miR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression.6
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Dessen P

MRPL43 (mitochondrial ribosomal protein L43)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70459/mrpl43-(mitochondrial-ribosomal-protein-l43)