• Gene id: 26589

Gene Summary

• Gene Symbol: MRPL46   Gene   UCSC   Ensembl
• Aliases: C15orf4, LIECG2, P2ECSL
• Gene name: mitochondrial ribosomal protein L46
• Alternate names: 39S ribosomal protein L46, mitochondrial, L46mt, MRP-L46, mitochondrial large ribosomal subunit protein mL46,
• Gene location: 15q25.3 (88467387: 88459477)     Exons: 4     NC_000015.10
• 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: 611851

Protein Summary

• Protein general information: Q9H2W6  
  • Name: 39S ribosomal protein L46, mitochondrial (L46mt) (MRP L46) (Mitochondrial large ribosomal subunit protein mL46) (P2ECSL)
  • Length: 279  
  • Mass: 31705
• Sequence:

  MAAPVRRTLLGVAGGWRRFERLWAGSLSSRSLALAAAPSSNGSPWRLLGALCLQRPPVVSKPLTPLQEEMASLLQ
  QIEIERSLYSDHELRALDENQRLAKKKADLHDEEDEQDILLAQDLEDMWEQKFLQFKLGARITEADEKNDRTSLN
  RKLDRNLVLLVREKFGDQDVWILPQAEWQPGETLRGTAERTLATLSENNMEAKFLGNAPCGHYTFKFPQAMRTES
  NLGAKVFFFKALLLTGDFSQAGNKGHHVWVTKDELGDYLKPKYLAQVRRFVSDL

• Structural information:
  • Interpro: IPR033650  IPR040008  IPR015797  IPR021757  
  • CDD: cd04661
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000312311
• Other Databases: GeneCards:  MRPL46  Malacards:  MRPL46

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003735	structural constituent of ribosome	IBA	molecular function
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:0016787	hydrolase activity	IEA	molecular function
GO:0003735	structural constituent of ribosome	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:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray