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

    Gene ID: 51001, updated on 5-Mar-2024

    Summary

    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 transcription, DNA-templated. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 7.1), appendix (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MTERF3 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96239398..96261613, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97364733..97387331, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 outer membrane TAS
    Traceable Author Statement
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001286643.1NP_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:159355
      mTERF; mTERF
    2. NM_001362964.1NP_001349893.1  transcription termination factor 3, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK309002, BC012995, HY116693, HY158862
      Conserved Domains (1) summary
      cl19765
      Location:1176
      mTERF
    3. NM_015942.5NP_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:159398
      mTERF; mTERF

    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_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      Related
      ENSP00000430138.1, ENST00000522822.5
      Conserved Domains (1) summary
      cl19765
      Location:46253
      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_054360535.1XP_054216510.1  transcription termination factor 3, mitochondrial isoform X1