Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	91574
Gene name	Mitochondrial translation release factor in rescue
Gene symbol	MTRFR
Synonyms (NCBI Gene)	C12orf65COXPD7SPG55mtRF-R
Chromosome	12
Chromosome location	12q24.31
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 mitoc

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140411575	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs147328685	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514539	C>T	Pathogenic	Stop gained, coding sequence variant
rs398122365	C>T	Pathogenic	Stop gained, coding sequence variant
rs398122972	G>-	Pathogenic	Stop gained, coding sequence variant
rs576462794	A>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs587776508	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs587777667	AACAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777668	T>A	Pathogenic	Splice donor variant
rs863223926	->ATCC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793074	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1439433665	AAAAGAGCAAAGGAAA>-,AAAAGAGCAAAGGAAAAAAAGAGCAAAGGAAA	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	33243891
GO:0003723	Function	RNA binding	IEA
GO:0003747	Function	Translation release factor activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 31396629, 33243891, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	20186120, 20598281
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	20186120
GO:0005759	Component	Mitochondrial matrix	TAS	33878294
GO:0006412	Process	Translation	IEA
GO:0006415	Process	Translational termination	IEA
GO:0016149	Function	Translation release factor activity, codon specific	IDA	33878294
GO:0043023	Function	Ribosomal large subunit binding	IDA	33243891
GO:0072344	Process	Rescue of stalled ribosome	IDA	33243891

MIM	HGNC	e!Ensembl
613541	26784	ENSG00000130921

Q9H3J6

Protein name

Mitochondrial translation release factor in rescue

Protein 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 transfe

PDB

7A5H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00472	RF-1	48 → 164	RF-1 domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all areas of the brain tested. {ECO:0000269|PubMed:24198383}.

Sequence

MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENEL
EEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRSVDQNRKLARKILQEKVDVFY
NGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWESSKKVH

Sequence length

166

Interactions

View interactions

269

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs587776508	RCV000454329
Combined oxidative phosphorylation defect type 7	Likely pathogenic; Pathogenic	rs587776508, rs576462794, rs2138800520, rs1380513950, rs863223926, rs1460180114, rs2547597991, rs397514539, rs2048143498, rs2048187051, rs398122972	RCV000000070 RCV000000071 RCV002239179 RCV002510357 RCV000694009 RCV003779433 RCV003815681 RCV002228073 RCV001065062 RCV001035224 RCV005624320
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs587776508	RCV001003606
Hereditary motor and sensory neuropathy with optic atrophy	Likely pathogenic	rs2138792385	RCV001353165
Hereditary spastic paraplegia 55	Likely pathogenic; Pathogenic	rs587776508, rs587777667, rs587777668, rs863223926, rs397514539, rs398122365, rs398122972, rs2048145654	RCV000679867 RCV000133580 RCV000133581 RCV002500608 RCV000032782 RCV000074452 RCV000076925 RCV001263155
MTRFR-related disorder	Likely pathogenic	rs2547600304	RCV003391542
Spastic paraplegia	Likely pathogenic; Pathogenic	rs576462794, rs2138800520, rs863223926, rs1460180114, rs2547597991, rs397514539, rs2048143498, rs2048187051	RCV001382822 RCV002239179 RCV000694009 RCV003779433 RCV003815681 RCV002228073 RCV001065062 RCV001035224

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Combined oxidative phosphorylation deficiency	Likely benign; Uncertain significance	rs202152701, rs886049040, rs886049046, rs148010033	RCV000336587 RCV000332181 RCV000401882 RCV000315504
Hereditary spastic paraplegia	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs2138792701, rs774090934, rs769551356, rs749208492, rs78651634, rs140411575, rs147328685, rs188310109, rs140942886, rs573747271, rs1593287730	RCV001848358 RCV001848359 RCV001848360 RCV001848361 RCV001847677 RCV001847743 RCV001847744 RCV001847048 RCV001847054 RCV001847059 RCV001847112
Optic atrophy	Uncertain significance	rs2547600398	RCV004818300

MTRFR (mitochondrial translation release factor in rescue)