• Gene id: 64976

Gene Summary

• Gene Symbol: MRPL40   Gene   UCSC   Ensembl
• Aliases: L40mt, MRP-L22, MRP-L40, MRPL22, NLVCF, URIM
• Gene name: mitochondrial ribosomal protein L40
• Alternate names: 39S ribosomal protein L40, mitochondrial, mitochondrial large ribosomal subunit protein mL40, nuclear localization signal-containing protein deleted in velocardiofacial syndrome, up-regulated in metastasis,
• Gene location: 22q11.21 (41468691: 41459716)     Exons: 4     NC_000022.11
• 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: 605089

Protein Summary

• Protein general information: Q9NQ50  
  • Name: 39S ribosomal protein L40, mitochondrial (L40mt) (MRP L40) (Mitochondrial large ribosomal subunit protein mL40) (Nuclear localization signal containing protein deleted in velocardiofacial syndrome) (Up regulated in metastasis)
  • Length: 206  
  • Mass: 24490
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MTASVLRSISLALRPTSGLLGTWQTQLRETHQRASLLSFWELIPMRSEPLRKKKKVDPKKDQEAKERLKRKIRKL
  EKATQELIPIEDFITPLKFLDKARERPQVELTFEETERRALLLKKWSLYKQQERKMERDTIRAMLEAQQEALEEL
  QLESPKLHAEAIKRDPNLFPFEKEGPHYTPPIPNYQPPEGRYNDITKVYTQVEFKR

• Structural information:
  • Interpro: IPR039145  IPR019192  
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000333401
• Other Databases: GeneCards:  MRPL40  Malacards:  MRPL40

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:0005762	mitochondrial large ribosomal subunit	IEA	cellular component
GO:0005840	ribosome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0009653	anatomical structure morphogenesis	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005761	mitochondrial ribosome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005761	mitochondrial ribosome	ISS	cellular component
GO:0003723	RNA binding	HDA	molecular function

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