MRPS7 (mitochondrial ribosomal protein S7)

2014-11-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
COXPD34,MRP-S,MRP-S7,RP-S7,RPMS7,S7mt,bMRP27a
FUSION GENES

Other Information

Locus ID:

NCBI: 51081
MIM: 611974
HGNC: 14499
Ensembl: ENSG00000125445

Variants:

dbSNP: 51081
ClinVar: 51081
TCGA: ENSG00000125445
COSMIC: MRPS7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125445ENST00000245539Q9Y2R9
ENSG00000125445ENST00000245539A0A024R8L0
ENSG00000125445ENST00000579002J3QLS3
ENSG00000125445ENST00000579761J3QKW2
ENSG00000125445ENST00000581993J3QQS1
ENSG00000125445ENST00000583407J3KSV8
ENSG00000125445ENST00000584678J3KSI8

Expression (GTEx)

0
10
20
30
40
50
60
70

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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
255561852015Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.13

Citation

Dessen P

MRPS7 (mitochondrial ribosomal protein S7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70493/mrps7