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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9617
Gene name	Mitochondrial translation release factor 1
Gene symbol	MTRF1
Synonyms (NCBI Gene)	MRF1MTTRF1RF1
Chromosome	13
Chromosome location	13q14.11
Summary	The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of tra

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050076	hsa-miR-26a-5p	CLASH	23622248
MIRT040962	hsa-miR-18a-3p	CLASH	23622248
MIRT1165140	hsa-miR-1279	CLIP-seq
MIRT1165141	hsa-miR-4717-5p	CLIP-seq
MIRT1165142	hsa-miR-4775	CLIP-seq
MIRT1165143	hsa-miR-590-3p	CLIP-seq
MIRT2575404	hsa-miR-1305	CLIP-seq
MIRT2575405	hsa-miR-4753-3p	CLIP-seq
MIRT2575406	hsa-miR-4768-5p	CLIP-seq
MIRT2575407	hsa-miR-513c	CLIP-seq
MIRT2575408	hsa-miR-514b-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003747	Function	Translation release factor activity	IEA
GO:0003747	Function	Translation release factor activity	TAS	9838146
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	37141370
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9838146
GO:0006412	Process	Translation	IEA
GO:0006415	Process	Translational termination	IEA
GO:0016149	Function	Translation release factor activity, codon specific	IDA	36302763, 36596788, 37141370
GO:0016149	Function	Translation release factor activity, codon specific	IEA
GO:0070126	Process	Mitochondrial translational termination	IBA
GO:0070126	Process	Mitochondrial translational termination	IDA	37141370
GO:0070126	Process	Mitochondrial translational termination	IEA
GO:0070126	Process	Mitochondrial translational termination	TAS	9838146

MIM	HGNC	e!Ensembl
604601	7469	ENSG00000120662

O75570

Protein name

Peptide chain release factor 1, mitochondrial (MRF-1) (MtRF-1)

Protein function

Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-canonical stop codons AGG and AGA (PubMed:36302763, PubMed:36596788, PubMed:37141370). Non-canonical termination codons A

PDB

8OIN , 8OIP , 8OIQ , 8OIR , 8OIS , 8OIT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03462	PCRF	82 → 282	PCRF domain	Domain
PF00472	RF-1	289 → 399	RF-1 domain	Family

Sequence

MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRR
YCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIY
QEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTIDQKINMLYNELFQSLVPKEKY
DKNDVILEVTAGRTTGGDICQQFTREIFDMYQNYSCYKHWQFELLNYTPADYGGLHHAAA
RISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKLDPKDL
RIDTFRAKGAGGQHVNKTDSAVRLVHIPTGLVVECQQERSQIKNKEIAFRVLRARLYQQI
IEKDKRQQQSARKLQVGTRAQSERIRTYNFTQDRVSDHRIAYEVRDIKEFLCGGKGLDQL
IQRLLQSADEEAIAELLDEHLKSAK

Sequence length

445

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MTRF1 (mitochondrial translation release factor 1)