MTRFR
entrez
91574
canonical
uniprot
Q9H3J6
canonical
ensembl
ENSG00000130921
resolver
ensp
ENSP00000253233
resolver
ensp
ENSP00000390647
resolver
ensp
ENSP00000578792
resolver
ensp
ENSP00000578796
resolver
ensp
ENSP00000588307
resolver
genesymbol
MTRFR
resolver
hgnc
HGNC:26784
resolver
uniprot
Q8WUC6
resolver
uniprot_entry
MTRFR_HUMAN
resolver
uniprot_sec
Q8WUC6
resolver
amino_acid_sequence
MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENELEEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDVFYNGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWESSKKVH
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 7 (COXPD7) [MIM:613559]: A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. {ECO:0000269|PubMed:20598281, ECO:0000269|PubMed:25995486, ECO:0000269|PubMed:32478789, ECO:0000269|PubMed:32808965}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 55, autosomal recessive (SPG55) [MIM:615035]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269|PubMed:23188110, ECO:0000269|PubMed:24080142, ECO:0000269|PubMed:24198383, ECO:0000269|PubMed:26380172}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation (PubMed:33243891). As heterodimer with MTRES1, ejects the unfinished nascent chain and peptidyl transfer RNA (tRNA), respectively, from stalled ribosomes. Recruitment of mitoribosome biogenesis factors to these quality control intermediates suggests additional roles for MTRES1 and MTRF during mitoribosome rescue (PubMed:33243891). {ECO:0000269|PubMed:33243891}.
uniprot
proteins
mass_dalton
18828
uniprot
proteins
post_translational_modification
PTM: Methylation of glutamine in the GGQ triplet by HEMK1. {ECO:0000269|PubMed:35260756}.
uniprot
proteins
protein_family
Prokaryotic/mitochondrial release factor family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20186120
uniprot
proteins
pubmed
20598281
uniprot
proteins
pubmed
22821833
uniprot
proteins
pubmed
23188110
uniprot
proteins
pubmed
24080142
uniprot
proteins
pubmed
24198383
uniprot
proteins
pubmed
25995486
uniprot
proteins
pubmed
26380172
uniprot
proteins
pubmed
31396629
uniprot
proteins
pubmed
32478789
uniprot
proteins
pubmed
32808965
uniprot
proteins
pubmed
33243891
uniprot
proteins
pubmed
35260756
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20186120, ECO:0000269|PubMed:20598281}.
uniprot
proteins