MRPS34 (mitochondrial ribosomal protein S34)

2014-11-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
COXPD32,MRP-S12,MRP-S34,MRPS12
FUSION GENES

Other Information

Locus ID:

NCBI: 65993
MIM: 611994
HGNC: 16618
Ensembl: ENSG00000074071

Variants:

dbSNP: 65993
ClinVar: 65993
TCGA: ENSG00000074071
COSMIC: MRPS34

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000074071ENST00000177742C9JJ19
ENSG00000074071ENST00000397375P82930

Expression (GTEx)

0
50
100
150
200

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
287779312017Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.45
287779312017Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.45
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

MRPS34 (mitochondrial ribosomal protein S34)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70489/mrps34-(mitochondrial-ribosomal-protein-s34)