• Gene id: 54148

Gene Summary

• Gene Symbol: MRPL39   Gene   UCSC   Ensembl
• Aliases: C21orf92, L39mt, L5mt, MRP-L5, MRPL5, MSTP003, PRED22, PRED66, RPML5
• Gene name: mitochondrial ribosomal protein L39
• Alternate names: 39S ribosomal protein L39, mitochondrial, 39S ribosomal protein L5, mitochondrial, mitochondrial large ribosomal subunit protein mL39,
• Gene location: 21q21.3 (25607857: 25585655)     Exons: 12     NC_000021.9
• 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: 611845

Protein Summary

• Protein general information: Q9NYK5  
  • Name: 39S ribosomal protein L39, mitochondrial (L39mt) (MRP L39) (39S ribosomal protein L5, mitochondrial) (L5mt) (MRP L5) (Mitochondrial large ribosomal subunit protein mL39)
  • Length: 338  
  • Mass: 38712
  • Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is heart-specific.
• Sequence:

  MEALAMGSRALRLWLVAPGGGIKWRFIATSSASQLSPTELTEMRNDLFNKEKARQLSLTPRTEKIEVKHVGKTDP
  GTVFVMNKNISTPYSCAMHLSEWYCRKSILALVDGQPWDMYKPLTKSCEIKFLTFKDCDPGEVNKAYWRSCAMMM
  GCVIERAFKDEYMVNLVRAPEVPVISGAFCYDVVLDSKLDEWMPTKENLRSFTKDAHALIYKDLPFETLEVEAKV
  ALEIFQHSKYKVDFIEEKASQNPERIVKLHRIGDFIDVSEGPLIPRTSICFQYEVSAVHNLQPTQPSLIRRFQGV
  SLPVHLRAHFTIWDKLLERSRKMVTEDQSKATEECTST

• Structural information:
  • Protein Domains: (63..12-)
    (/note="TGS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01228"-)
  • Interpro: IPR012675  IPR012676  IPR018163  
  • Prosite: PS51880
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000305682
• Other Databases: GeneCards:  MRPL39  Malacards:  MRPL39

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	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:0000166	nucleotide binding	IEA	molecular function
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
GO:0003723	RNA binding	HDA	molecular function
GO:0005761	mitochondrial ribosome	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray