• Gene id: 10884

Gene Summary

• Gene Symbol: MRPS30   Gene   UCSC   Ensembl
• Aliases: MRP-S30, PAP, PDCD9, S30mt
• Gene name: mitochondrial ribosomal protein S30
• Alternate names: 39S ribosomal protein S30, mitochondrial, 28S ribosomal protein S30, mitochondrial, mitochondrial large ribosomal subunit protein mL65, mitochondrial large ribosomal subunit protein mS30, programmed cell death 9,
• Gene location: 5p12 (44808946: 44815513)     Exons: 5     NC_000005.10
• 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: 611991

Protein Summary

• Protein general information: Q9NP92  
  • Name: 39S ribosomal protein S30, mitochondrial (MRP S30) (S30mt) (Mitochondrial large ribosomal subunit protein mL65) (Mitochondrial large ribosomal subunit protein mS30) (Programmed cell death protein 9)
  • Length: 439  
  • Mass: 50365
  • Tissue specificity: Heart, skeletal muscle, kidney and liver. Lower expression in placenta and peripheral blood leukocytes. {ECO
• Sequence:

  MAAARCWRPLLRGPRLSLHTAANAAATATETTCQDVAATPVARYPPIVASMTADSKAARLRRIERWQATVHAAES
  VDEKLRILTKMQFMKYMVYPQTFALNADRWYQYFTKTVFLSGLPPPPAEPEPEPEPEPEPALDLAALRAVACDCL
  LQEHFYLRRRRRVHRYEESEVISLPFLDQLVSTLVGLLSPHNPALAAAALDYRCPVHFYWVRGEEIIPRGHRRGR
  IDDLRYQIDDKPNNQIRISKQLAEFVPLDYSVPIEIPTIKCKPDKLPLFKRQYENHIFVGSKTADPCCYGHTQFH
  LLPDKLRRERLLRQNCADQIEVVFRANAIASLFAWTGAQAMYQGFWSEADVTRPFVSQAVITDGKYFSFFCYQLN
  TLALTTQADQNNPRKNICWGTQSKPLYETIEDNDVKGFNDDVLLQIVHFLLNRPKEEKSQLLEN

• Structural information:
  • Interpro: IPR039982  IPR010793  
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000424328
• Other Databases: GeneCards:  MRPS30  Malacards:  MRPS30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005762	mitochondrial large ribosomal subunit	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005762	mitochondrial large ribosomal subunit	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005840	ribosome	IEA	cellular component
GO:0006412	translation	IEA	biological process
GO:0003735	structural constituent of ribosome	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005840	ribosome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	TAS	biological process
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
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray