MALSU1
Description
The MALSU1 (mitochondrial assembly of ribosomal large subunit 1) is a protein-coding gene located on chromosome 7.
MALSU1 is a gene located on chromosome 7 in humans, encoding the MALSU1 protein. This protein resides within mitochondria and is likely involved in mitochondrial translation or the formation of the large subunit of the mitochondrial ribosome. MALSU1 belongs to the DUF143 family, a group of proteins with unknown function that is highly conserved across prokaryotes and eukaryotes but absent in archaea. This conserved domain is also present in the iojap gene, a pattern-striping gene in maize. MALSU1 is a single-copy gene in humans, meaning there are no known or predicted paralogs. The conserved domain spans from position 93 to 194 on the human protein, encompassing 43.2% of its sequence.
MALSU1 is crucial for the proper functioning of mitochondrial ribosomes and mitochondrial translation. It likely prevents the premature joining of the 28S and 39S ribosomal subunits, potentially playing a role in ribosome assembly. The protein interacts with MRPL14, possibly blocking the formation of the B8 intersubunit bridge and thus inhibiting the association of the 28S and 39S subunits. Adding MALSU1 to isolated mitochondrial ribosomal subunits partially hinders translation, likely by interfering with the joining of the 28S and 39S subunits and the formation of functional ribosomes. It may also contribute to the assembly and stability of the large subunit of the mitochondrial ribosome. MALSU1 might act as a ribosomal silencing factor. It associates with the large subunit of the mitochondrial ribosome (39S) through interaction with MRPL12 and/or MRPL14, creating steric hindrance that likely prevents premature association of the 28S and 39S ribosomal subunits. It interacts with intermediates of the large mitochondrial ribosomal subunit, recruiting the mitochondrial ribosome and complex I assembly factors AltMIEF1 and NDUFAB1, and regulating mitochondrial ribosome assembly.
MALSU1 is also known as C7orf30, mtRsfA.
