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    MTERF3 mitochondrial transcription termination factor 3 [ Homo sapiens (human) ]

    Gene ID: 51001, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTERF3provided by HGNC
    Official Full Name
    mitochondrial transcription termination factor 3provided by HGNC
    Primary source
    HGNC:HGNC:24258
    See related
    Ensembl:ENSG00000156469 MIM:616930; AllianceGenome:HGNC:24258
    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
    CGI-12; MTERFD1
    Summary
    Enables transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 7.1), appendix (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTERF3 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96239398..96261613, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97364733..97387331, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97251626..97273841, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901984 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97224174-97224416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27659 Neighboring gene ubiquinol-cytochrome c reductase binding protein Neighboring gene UQCRB antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97272591-97273284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27660 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97273659-97273983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97273978-97274670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27661 Neighboring gene uncharacterized LOC105375652 Neighboring gene Sharpr-MPRA regulatory region 10382 Neighboring gene phosphatidylserine synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27664 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:97339509-97340044 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:97340045-97340580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97351756-97352256 Neighboring gene uncharacterized LOC102724804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:97388962-97389724

    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. Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation. Zheng Z, et al. Commun Biol, 2024 Jan 5. PMID 38177713, Free PMC Article
    2. Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication. Hyvärinen AK, et al. Mol Biol Rep, 2011 Feb. PMID 20577816
    3. A family of putative transcription termination factors shared amongst metazoans and plants. Linder T, et al. Curr Genet, 2005 Oct. PMID 16193327
    4. MTERFD1 promotes cell growth and irradiation resistance in colorectal cancer by upregulating interleukin-6 and interleukin-11. Liu X, et al. Int J Biol Sci, 2019. PMID 31754344, Free PMC Article
    5. MTERF3 is a negative regulator of mammalian mtDNA transcription. Park CB, et al. Cell, 2007 Jul 27. PMID 17662942

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation.
      Title: Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation.
    2. These results demonstrated that MTERFD1 played an oncogenic role in colorectal (CRC) development and enhanced irradiation resistance by regulating IL-6 and IL-11 in CRC cells. MTERFD1 may serve as a potential prognostic and therapeutic marker for radiotherapy in CRC.
      Title: MTERFD1 promotes cell growth and irradiation resistance in colorectal cancer by upregulating interleukin-6 and interleukin-11.
    3. MTERFD1 and MTERFD3 have a role in impairing the completion of mitochondrial DNA replication
      Title: Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication.
    4. 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

    EBI GWAS Catalog

    Description
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ10939

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial ribosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription termination factor 3, mitochondrial
    Names
    MTERF domain containing 1
    mTERF domain-containing protein 1, 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.

    mRNA and Protein(s)

    1. NM_001286643.1 → NP_001273572.1  transcription termination factor 3, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK309002, HY116693
      Consensus CDS
      CCDS75772.1
      UniProtKB/TrEMBL
      E5RIK9
      Related
      ENSP00000429400.1, ENST00000523821.5
      Conserved Domains (1) summary
      cl19765
      Location:159 → 355
      mTERF; mTERF

    2. NM_001362964.1 → NP_001349893.1  transcription termination factor 3, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK309002, BC012995, HY116693, HY158862
      Conserved Domains (1) summary
      cl19765
      Location:1 → 176
      mTERF

    3. NM_015942.5 → NP_057026.3  transcription termination factor 3, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_057026.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AK309002, BC012995, HY116693
      Consensus CDS
      CCDS6270.1
      UniProtKB/Swiss-Prot
      B3KMG6, G3V130, Q96E29, Q9Y301
      Related
      ENSP00000287025.3, ENST00000287025.4
      Conserved Domains (1) summary
      cl19765
      Location:159 → 398
      mTERF; mTERF

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      96239398..96261613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517054.3 → XP_011515356.1  transcription termination factor 3, mitochondrial isoform X1

      Related
      ENSP00000430138.1, ENST00000522822.5
      Conserved Domains (1) summary
      cl19765
      Location:46 → 253
      mTERF; mTERF

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      97364733..97387331 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360535.1 → XP_054216510.1  transcription termination factor 3, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E29.2 GenPept UniProtKB/Swiss-Prot:Q96E29

    Gene LinkOut

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

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