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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	91574
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial translation release factor in rescue
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTRFR
Synonyms (NCBI Gene) Gene synonyms aliases	C12orf65, COXPD7, SPG55, mtRF-R
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.31
Summary Summary of gene provided in NCBI Entrez 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 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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Combined Oxidative Phosphorylation Deficiency	combined oxidative phosphorylation defect type 7	rs587776508, rs576462794	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia 55	rs397514539, rs398122365, rs398122972, rs587777667, rs587777668, rs587776508	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs587776508	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

MTRFR (mitochondrial translation release factor in rescue)