ERAL1 Gene Summary [Human]

The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Details

Type
Nonsense Mediated Decay
Official Symbol
ERAL1
Official Name
Era like 12S mitochondrial rRNA chaperone 1 [Source:HGNC Symbol;Acc:HGNC:3424]
Ensembl ID
ENSG00000132591
Bio databases IDs NCBI: 26284 Ensembl: ENSG00000132591
Aliases Era like 12S mitochondrial rRNA chaperone 1
Synonyms 2610524P08Rik, 9130407C09Rik, CEGA, ERA, ERAL1A, ERAL1B, Era-like 12S mitochondrial rRNA chaperone 1, ERA-W, H-ERA, HERA-A, HERA-B, M-ERA, MERA-S, MERA-W, PRLTS6
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 ERAL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GTP-binding protein Era
  • rRNA binding
  • K homology (KH) RNA-binding domain, type I
  • KH domain
  • 50S ribosome-binding GTPase
  • hinge domain
  • protein binding
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • ribosomal small subunit 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
  • uterine leiomyoma
  • leiomyomatosis
  • Perrault syndrome type 6
regulated by
regulates
  • Ribosomal Subunit 40s
role in cell
  • growth
  • tamoxifen sensitivity

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
  • Mitochondria
  • cytosol
  • mitochondrial matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ERAL1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • ribosomal small subunit assembly

Cellular Component

Where in the cell the gene product is active
  • mitochondrial matrix
  • mitochondrion
  • cytosol
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • RNA binding
  • protein binding
  • ribosomal small subunit binding
  • rRNA 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.