MRPS30 (mitochondrial ribosomal protein S30)

2006-10-01  

Identity

HGNC
LOCATION
5p12
LOCUSID
ALIAS
MRP-S30,PAP,PDCD9,S30mt
FUSION GENES

Other Information

Locus ID:

NCBI: 10884
MIM: 611991
HGNC: 8769
Ensembl: ENSG00000112996

Variants:

dbSNP: 10884
ClinVar: 10884
TCGA: ENSG00000112996
COSMIC: MRPS30

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112996ENST00000507110Q9NP92

Expression (GTEx)

0
5
10
15
20
25

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

References

Pubmed IDYearTitleCitations
197893662009Evaluation of 11 breast cancer susceptibility loci in African-American women.56
276403042016Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
243883592014The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.12
243883592014The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.12
245280852014Breast cancer association studies in a Han Chinese population using 10 European-ancestry-associated breast cancer susceptibility SNPs.1

Citation

Dessen P

MRPS30 (mitochondrial ribosomal protein S30)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43363/mrps30