MRPL40

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% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]

Description

Mitochondrial ribosomal protein L40

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli, Mitochondria

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Ribosomal proteins

Chromosome

22 (19432545 - 19436075)

Ensembl ID

ENSG00000185608  (ver. 103.38)

Orthologs

Mouse Mrpl40: ENSMUSG00000022706

UniProt

Q9NQ50

neXtProt

NX_Q9NQ50

Human splice variants
Mouse splice variants

Protein structure