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MTRFR mitochondrial translation release factor in rescue [ Homo sapiens (human) ]

Gene ID: 91574, updated on 4-Dec-2022

Summary

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Official Symbol
MTRFRprovided by HGNC
Official Full Name
mitochondrial translation release factor in rescueprovided by HGNC
Primary source
HGNC:HGNC:26784
See related
Ensembl:ENSG00000130921 MIM:613541; AllianceGenome:HGNC:26784
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPG55; COXPD7; mtRF-R; C12orf65
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 mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in ovary (RPKM 3.7), testis (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See MTRFR in Genome Data Viewer
Location:
12q24.31
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123232914..123257960)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123229989..123254487)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123717983..123742507)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene Sharpr-MPRA regulatory region 3114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579095-123579658 Neighboring gene M-phase phosphoprotein 9 Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 375

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria? Ayyub SA, et al. J Cell Sci, 2020 Jan 2. PMID 31896602
  2. [Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report]. Lin SZ, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2019 Nov. PMID 31753091, Free PMC Article
  3. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. Wesolowska M, et al. J Neuromuscul Dis, 2015 Oct 7. PMID 27858754, Free PMC Article
  4. Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene. Pyle A, et al. J Neuromuscul Dis, 2014. PMID 26380172, Free PMC Article
  5. Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. Imagawa E, et al. J Neurol Neurosurg Psychiatry, 2016 Feb. PMID 25995486

See all (34) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. results showed two compound heterozygous mutations, c.394C>T and c.447_449delGGAinsGT, in the C12orf65 gene. The former mutation came from her father
    Title: [Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
  2. We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features
    Title: Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
  3. our study delineates the broad spectrum of C12orf65 defects and establishes a distinct genotype-phenotype correlation. The obligatory clinical triad is optic atrophy, peripheral neuropathy, and spastic paraparesis.
    Title: Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
  4. The C12orf65 gene encodes a mitochondrial matrix protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes.
    Title: Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
  5. Truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia in 2 patients.
    Title: Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
  6. This work describes a mutation in the C12orf65 gene that causes recessive form of CMT6 and confirms the role of mitochondrial dysfunction in this complex axonal neuropathy.
    Title: Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
  7. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy.
    Title: A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
  8. Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation.
    Title: Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65.
  9. C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation.
    Title: Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation defect type 7
MedGen: C3150801 OMIM: 613559 GeneReviews: Not available
Compare labs
Hereditary spastic paraplegia 55
MedGen: C3539506 OMIM: 615035 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38663

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribosomal large subunit binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables translation release factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in rescue of stalled ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in translational termination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial translation release factor in rescue
Names
probable peptide chain release factor C12orf65, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027517.1 RefSeqGene

    Range
    5140..29664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143905.2 → NP_001137377.1  mitochondrial translation release factor in rescue

    See identical proteins and their annotated locations for NP_001137377.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC068768, AC073857, BI850864
    Consensus CDS
    CCDS9244.1
    UniProtKB/Swiss-Prot
    Q8WUC6, Q9H3J6
    Conserved Domains (1) summary
    pfam00472
    Location:53 → 116
    RF-1; RF-1 domain

  2. NM_001194995.1 → NP_001181924.1  mitochondrial translation release factor in rescue

    See identical proteins and their annotated locations for NP_001181924.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC068768, AC073857
    Consensus CDS
    CCDS9244.1
    UniProtKB/Swiss-Prot
    Q8WUC6, Q9H3J6
    Related
    ENSP00000390647.1, ENST00000366329.7
    Conserved Domains (1) summary
    pfam00472
    Location:53 → 116
    RF-1; RF-1 domain

  3. NM_152269.5 → NP_689482.1  mitochondrial translation release factor in rescue

    See identical proteins and their annotated locations for NP_689482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses the 5'-most alternate exon. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AC068768, BU507560
    Consensus CDS
    CCDS9244.1
    UniProtKB/Swiss-Prot
    Q8WUC6, Q9H3J6
    Related
    ENSP00000253233.1, ENST00000253233.6
    Conserved Domains (1) summary
    pfam00472
    Location:53 → 116
    RF-1; RF-1 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    123232914..123257960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429877.1 → XP_047285833.1  mitochondrial translation release factor in rescue isoform X1

    UniProtKB/Swiss-Prot
    Q8WUC6

  2. XM_024449273.2 → XP_024305041.1  mitochondrial translation release factor in rescue isoform X1

    UniProtKB/Swiss-Prot
    Q8WUC6
    Conserved Domains (1) summary
    pfam00472
    Location:53 → 116
    RF-1; RF-1 domain

  3. XM_011538980.4 → XP_011537282.1  mitochondrial translation release factor in rescue isoform X1

    See identical proteins and their annotated locations for XP_011537282.1

    UniProtKB/Swiss-Prot
    Q8WUC6, Q9H3J6
    Related
    ENSP00000505808.1, ENST00000679849.1
    Conserved Domains (1) summary
    pfam00472
    Location:53 → 116
    RF-1; RF-1 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    123229989..123254487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H3J6.1 GenPept UniProtKB/Swiss-Prot:Q9H3J6

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