• Gene id: 51642

Gene Summary

• Gene Symbol: MRPL48   Gene   UCSC   Ensembl
• Aliases: CGI-118, HSPC290, L48MT, MRP-L48
• Gene name: mitochondrial ribosomal protein L48
• Alternate names: 39S ribosomal protein L48, mitochondrial, mitochondrial large ribosomal subunit protein mL48,
• Gene location: 11q13.4 (1475083: 1444932)     Exons: 26     NC_000016.10
• 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: 611853

Protein Summary

• Protein general information: Q96GC5  
  • Name: 39S ribosomal protein L48, mitochondrial (L48mt) (MRP L48) (Mitochondrial large ribosomal subunit protein mL48)
  • Length: 212  
  • Mass: 23935
• Sequence:

  MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGILLSISRPYKTKPTHGIGKYKHLIKAEEPKKKKGKV
  EVRAINLGTDYEYGVLNIHLTAYDMTLAESYAQYVHNLCNSLSIKVEESYAMPTKTIEVLQLQDQGSKMLLDSVL
  TTHERVVQISGLSATFAEIFLEIIQSSLPEGVRLSVKEHTEEDFKGRFKARPELEELLAKLK

• Structural information:
  • Interpro: IPR027487  IPR027486  IPR036838  
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000308717
• Other Databases: GeneCards:  MRPL48  Malacards:  MRPL48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005761	mitochondrial ribosome	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:0005761	mitochondrial ribosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005761	mitochondrial ribosome	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
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq