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

    Gene ID: 91574, updated on 3-Apr-2024

    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
    mouse all
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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
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123232914..123257960)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123229466..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 H3K4me1 hESC enhancer GRCh37_chr12:123496109-123497029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123512108-123513066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123513067-123514024 Neighboring gene microRNA 4304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123528097-123528676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123543041-123543542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123549368-123550230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123550389-123550890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123554866-123555738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123562495-123563216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7250 Neighboring gene PITPNM2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7251 Neighboring gene Sharpr-MPRA regulatory region 3114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123576672-123577193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123577194-123577714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579095-123579658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123579659-123580222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123580855-123581820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123588763-123589503 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123589504-123590246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123591730-123592470 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123602973-123603786 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123603787-123604600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123612195-123612806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5031 Neighboring gene M-phase phosphoprotein 9 Neighboring gene MPRA-validated peak2026 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123735127-123735916 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123749585-123749777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5032 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123754459-123755207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123756263-123756770 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 (33) citations in PubMed

    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
    		  
    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
      UniProtKB/TrEMBL
      F5H4X5
      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
      UniProtKB/TrEMBL
      F5H4X5
      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
      UniProtKB/TrEMBL
      F5H4X5
      Related
      ENSP00000253233.1, ENST00000253233.6
      Conserved Domains (1) summary
      pfam00472
      Location:53 → 116
      RF-1; RF-1 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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, Q9H3J6

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

      UniProtKB/Swiss-Prot
      Q8WUC6, Q9H3J6
      UniProtKB/TrEMBL
      F5H4X5
      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
      UniProtKB/TrEMBL
      F5H4X5
      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
      123229466..123254487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373821.1 → XP_054229796.1  mitochondrial translation release factor in rescue isoform X1

      UniProtKB/Swiss-Prot
      Q8WUC6, Q9H3J6

    2. XM_054373819.1 → XP_054229794.1  mitochondrial translation release factor in rescue isoform X1

      UniProtKB/Swiss-Prot
      Q8WUC6, Q9H3J6

    3. XM_054373820.1 → XP_054229795.1  mitochondrial translation release factor in rescue isoform X1

      UniProtKB/Swiss-Prot
      Q8WUC6, Q9H3J6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3J6.1 GenPept UniProtKB/Swiss-Prot:Q9H3J6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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