U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
mitochondrial transcription rescue factor 1
Names
uncharacterized protein C6orf203

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous