Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs mRNA
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq N.A.

Description

Ensembl ID ENSG00000130921 Gene ID 91574 Accession 26784
Symbol MTRFR Alias SPG55;COXPD7;mtRF-R;C12orf65 Full Name mitochondrial translation release factor in rescue
Status Confidence Length 24695 bases Strand Plus strand
Position 12 : 123233385 - 123258079 RNA binding domain RF-1
Summary This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

RNA binding domains (RBDs)

RNA binding proteomes (RBPomes)

Transcripts

Phenotypes

GWAS

Protein-Protein Interaction (PPI)

Orthologs

Gene Ontology

Expression