• Gene id: 54534

Gene Summary

• Gene Symbol: MRPL50   Gene   UCSC   Ensembl
• Aliases: MRP-L50
• Gene name: mitochondrial ribosomal protein L50
• Alternate names: 39S ribosomal protein L50, mitochondrial, L50mt, mitochondrial 39S ribosomal protein L50, mitochondrial large ribosomal subunit protein mL50,
• Gene location: 9q31.1 (101398617: 101387632)     Exons: 2     NC_000009.12
• Gene summary(Entrez): Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot
• OMIM: 611854

Protein Summary

• Protein general information: Q8N5N7  
  • Name: 39S ribosomal protein L50, mitochondrial (L50mt) (MRP L50) (Mitochondrial large ribosomal subunit protein mL50)
  • Length: 158  
  • Mass: 18325
• Sequence:

  MAARSVSGITRRVFMWTVSGTPCREFWSRFRKEKEPVVVETVEEKKEPILVCPPLRSRAYTPPEDLQSRLESYVK
  EVFGSSLPSNWQDISLEDSRLKFNLLAHLADDLGHVVPNSRLHQMCRVRDVLDFYNVPIQDRSKFDELSASNLPP
  NLKITWSY

• Structural information:
  • Interpro: IPR018305  
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000363999
• Other Databases: GeneCards:  MRPL50  Malacards:  MRPL50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005762	mitochondrial large ribosomal subunit	IBA	cellular component
GO:0005762	mitochondrial large ribosomal subunit	IDA	cellular component
GO:0005762	mitochondrial large ribosomal subunit	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005840	ribosome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0070125	mitochondrial translational elongation	TAS	biological process
GO:0070126	mitochondrial translational termination	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881