MRPL48 Gene Summary [Human]

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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

Details

Type
Nonsense Mediated Decay
Official Symbol
MRPL48
Official Name
mitochondrial ribosomal protein L48 [Source:HGNC Symbol;Acc:HGNC:16653]
Ensembl ID
ENSG00000175581
Bio databases IDs NCBI: 51642 Ensembl: ENSG00000175581
Aliases mitochondrial ribosomal protein L48
Synonyms 1810030E20Rik, 2610028L11Rik, CGI-118, D4ERTD786E, HSPC290, L48MT, LOC102548233, mitochondrial ribosomal protein L48, mL48
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MRPL48 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Ribosomal protein S10p/S20e
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • insulin resistance
  • bipolar disorder
  • major depression
  • liver cancer
  • epithelial cancer
  • hepatocellular carcinoma
  • nicotine withdrawal syndrome
regulated by
  • levodopa
  • AR
role in cell
  • proliferative capacity
  • migratory capacity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • ribosome
  • Mitochondria
  • mitochondrial matrix
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MRPL48 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mitochondrial translation

Cellular Component

Where in the cell the gene product is active
  • mitochondrion
  • mitochondrial ribosome
  • mitochondrial large ribosomal subunit
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.