MRPS14 (mitochondrial ribosomal protein S14)

2014-11-01  

Identity

HGNC
LOCATION
1q25.1
LOCUSID
ALIAS
COXPD38,DJ262D12.2,HSMRPS14,MRP-S14,S14mt

Other Information

Locus ID:

NCBI: 63931
MIM: 611978
HGNC: 14049
Ensembl: ENSG00000120333

Variants:

dbSNP: 63931
ClinVar: 63931
TCGA: ENSG00000120333
COSMIC: MRPS14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120333ENST00000367677F2Z361
ENSG00000120333ENST00000476371O60783

Expression (GTEx)

0
5
10
15
20
25
30
35
40

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

References

Pubmed IDYearTitleCitations
303588502019A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.21
303588502019A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.21
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

MRPS14 (mitochondrial ribosomal protein S14)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70473/mrps14-(mitochondrial-ribosomal-protein-s14)