MRPS28 (mitochondrial ribosomal protein S28)

2014-08-01  

Identity

HGNC
LOCATION
8q21.13
LOCUSID
ALIAS
COXPD47,HSPC007,MRP-S28,MRP-S35,MRPS35
FUSION GENES

Other Information

Locus ID:

NCBI: 28957
MIM: 611990
HGNC: 14513
Ensembl: ENSG00000147586

Variants:

dbSNP: 28957
ClinVar: 28957
TCGA: ENSG00000147586
COSMIC: MRPS28

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147586ENST00000276585Q9Y2Q9
ENSG00000147586ENST00000276585A0A0S2Z563
ENSG00000147586ENST00000518271H7C5V3
ENSG00000147586ENST00000518371U3KQQ8
ENSG00000147586ENST00000519120E5RGC7
ENSG00000147586ENST00000519386H0YAT2
ENSG00000147586ENST00000520946E5RK86
ENSG00000147586ENST00000521434E5RFH3
ENSG00000147586ENST00000521605E5RFT8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
305666402019Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.1

Citation

Dessen P

MRPS28 (mitochondrial ribosomal protein S28)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54473/mrps28