MRPL53 (mitochondrial ribosomal protein L53)

2014-11-01  

Identity

HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
L53MT

Other Information

Locus ID:

NCBI: 116540
MIM: 611857
HGNC: 16684
Ensembl: ENSG00000204822

Variants:

dbSNP: 116540
ClinVar: 116540
TCGA: ENSG00000204822
COSMIC: MRPL53

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204822ENST00000258105Q96EL3
ENSG00000204822ENST00000409710B9A051

Expression (GTEx)

0
5
10
15
20

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
290533892018MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.1

Citation

Dessen P

MRPL53 (mitochondrial ribosomal protein L53)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70467/mrpl53