MTRFR

Protein identityUniProt · HPA

UniProt accession

Q9H3J6

Gene

MTRFR

Ensembl

ENSG00000130921

Chromosome

12

Canonical length

166 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Mitochondria,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

166 residues, UniProt reviewed canonical sequence.

>Q9H3J6|MTRFR
     1  MSTVGLFHFP TPLTRICPAP WGLRLWEKLT LLSPGIAVTP VQMAGKKDYP ALLSLDENEL
    61  EEQFVKGHGP GGQATNKTSN CVVLKHIPSG IVVKCHQTRS VDQNRKLARK ILQEKVDVFY
   121  NGENSPVHKE KREAAKKKQE RKKRAKETLE KKKLLKELWE SSKKVH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTRFR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.5

Highest tissue expression

56 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTRFR.

Disease | AllUniProt

Conditions MTRFR is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 7 (COXPD7) MIM:613559
• Spastic paraplegia 55, autosomal recessive (SPG55) MIM:615035

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation defect type 7
• Spastic paraplegia
• Hereditary spastic paraplegia 55
• Abnormal brain morphology
• Epileptic encephalopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0.21

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial translational termination
• rescue of stalled ribosome

Molecular functions

• peptidyl-tRNA hydrolase activity
• ribosomal large subunit binding
• translation release factor activity
• tRNA binding

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Peptide chain release factor class I
• Peptide chain release factor class I superfamily
• RF-1 domain
• Mitochondrial Translation Release Factor

KeywordsUniProt

• Coiled coil
• Hereditary spastic paraplegia
• Methylation
• Mitochondrion
• Neurodegeneration
• Primary mitochondrial disease
• Protein biosynthesis
• RNA-binding
• Transit peptide