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    MTRES1 mitochondrial transcription rescue factor 1 [ Homo sapiens (human) ]

    Gene ID: 51250, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MTRES1provided by HGNC
    Official Full Name
    mitochondrial transcription rescue factor 1provided by HGNC
    Primary source
    HGNC:HGNC:17971
    See related
    Ensembl:ENSG00000130349 MIM:618583; AllianceGenome:HGNC:17971
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRED31; HSPC230; C6orf203
    Summary
    Enables ribosomal large subunit binding activity and tRNA binding activity. Involved in regulation of mitochondrial transcription and rescue of stalled ribosome. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.2), kidney (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (107028199..107051586)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (108207085..108230443)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (107349403..107372790)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 6A-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17435 Neighboring gene CD24 molecule Neighboring gene ReSE screen-validated silencer GRCh37_chr6:107312640-107312741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24899 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:107361561-107362452 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107382561-107383456 Neighboring gene BEN domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:107414410-107414593 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107426683-107427338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17439 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107437205-107437968 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:107437969-107438734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24902 Neighboring gene RNA, U6 small nuclear 1299, pseudogene

    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. Elongational stalling activates mitoribosome-associated quality control. Desai N, et al. Science, 2020 Nov 27. PMID 33243891, Free PMC Article
    2. C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis. Gopalakrishna S, et al. Nucleic Acids Res, 2019 Sep 26. PMID 31396629, Free PMC Article
    3. Quantitative proteomics revealed C6orf203/MTRES1 as a factor preventing stress-induced transcription deficiency in human mitochondria. Kotrys AV, et al. Nucleic Acids Res, 2019 Aug 22. PMID 31226201, Free PMC Article
    4. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. Reymond A, et al. Genomics, 2001 Nov. PMID 11707072
    5. Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107413

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that mitochondrial transcription rescue factor 1 (MTRES1) is elevated in cells under stress and that this upregulation of MTRES1 prevents mitochondrial transcript loss under perturbed mitochondrial gene expression.
      Title: Quantitative proteomics revealed C6orf203/MTRES1 as a factor preventing stress-induced transcription deficiency in human mitochondria.
    2. Although mitoribosome stability is not affected in C6orf203-depleted cells, mitoribosome profiling analysis revealed a global disruption of the association of mt-mRNAs with the mitoribosome, suggesting that C6orf203 may be required for the proper maturation and functioning of the mitoribosome.
      Title: C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    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

    • FLJ34245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    Process Evidence Code Pubs
    involved_in regulation of mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitochondrial transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial transcription rescue factor 1
    Names
    uncharacterized protein C6orf203

    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.

    mRNA and Protein(s)

    1. NM_001142468.3 → NP_001135940.1  mitochondrial transcription rescue factor 1 isoform a

      See identical proteins and their annotated locations for NP_001135940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 1 and 2 encode the same isoform (a), which has a shorter N-terminus compared to isoform b.
      Source sequence(s)
      AI693246, AK091564, AL355586, CD673918, DA167160, DB499205
      Consensus CDS
      CCDS5058.1
      UniProtKB/Swiss-Prot
      B3KRG9, Q9P0P8
      Related
      ENSP00000384867.2, ENST00000405204.6
      Conserved Domains (1) summary
      cl40612
      Location:131 → 229
      YlmH_RBD; Putative RNA-binding domain in YlmH

    2. NM_001142470.3 → NP_001135942.1  mitochondrial transcription rescue factor 1 isoform b

      See identical proteins and their annotated locations for NP_001135942.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (b).
      Source sequence(s)
      AF151064, AI693246, AK091564, AL355586, BX333652, CD673918, DA167160, DB499205
      Consensus CDS
      CCDS78167.1
      UniProtKB/TrEMBL
      A0A0D9SEI0
      Related
      ENSP00000485698.1, ENST00000625458.1
      Conserved Domains (1) summary
      TIGR03069
      Location:146 → 232
      PS_II_S4; photosystem II S4 domain protein

    3. NM_016487.5 → NP_057571.1  mitochondrial transcription rescue factor 1 isoform a

      See identical proteins and their annotated locations for NP_057571.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 1 and 2 encode the same isoform (a), which has a shorter N-terminus compared to isoform b.
      Source sequence(s)
      AF151064, AI693246, AL355586, CD673918, DA167160, DB499205
      Consensus CDS
      CCDS5058.1
      UniProtKB/Swiss-Prot
      B3KRG9, Q9P0P8
      Related
      ENSP00000310951.5, ENST00000311381.8
      Conserved Domains (1) summary
      cl40612
      Location:131 → 229
      YlmH_RBD; Putative RNA-binding domain in YlmH

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      107028199..107051586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010920.2 → XP_016866409.1  mitochondrial transcription rescue factor 1 isoform X1

      Conserved Domains (1) summary
      TIGR03069
      Location:171 → 257
      PS_II_S4; photosystem II S4 domain protein

    2. XM_047418856.1 → XP_047274812.1  mitochondrial transcription rescue factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0D9SEI0

    3. XM_047418857.1 → XP_047274813.1  mitochondrial transcription rescue factor 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KRG9, Q9P0P8

    4. XM_011535877.4 → XP_011534179.1  mitochondrial transcription rescue factor 1 isoform X2

      See identical proteins and their annotated locations for XP_011534179.1

      UniProtKB/TrEMBL
      A0A0D9SEI0
      Conserved Domains (1) summary
      TIGR03069
      Location:146 → 232
      PS_II_S4; photosystem II S4 domain protein

    5. XM_017010919.3 → XP_016866408.1  mitochondrial transcription rescue factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0D9SEI0
      Conserved Domains (1) summary
      TIGR03069
      Location:146 → 232
      PS_II_S4; photosystem II S4 domain protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      108207085..108230443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355565.1 → XP_054211540.1  mitochondrial transcription rescue factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0D9SEI0

    2. XM_054355567.1 → XP_054211542.1  mitochondrial transcription rescue factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0D9SEI0

    3. XM_054355564.1 → XP_054211539.1  mitochondrial transcription rescue factor 1 isoform X1

    4. XM_054355566.1 → XP_054211541.1  mitochondrial transcription rescue factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0D9SEI0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0P8.1 GenPept UniProtKB/Swiss-Prot:Q9P0P8

    Gene LinkOut

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

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