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    TEFM transcription elongation factor, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 79736, updated on 9-Dec-2024

    Summary

    Official Symbol
    TEFMprovided by HGNC
    Official Full Name
    transcription elongation factor, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:26223
    See related
    Ensembl:ENSG00000172171 MIM:616422; AllianceGenome:HGNC:26223
    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
    COXPD58; C17orf42
    Summary
    Enables DNA polymerase processivity factor activity. Involved in mitochondrial transcription and oxidative phosphorylation. Located in mitochondrial nucleoid. Part of ribonucleoprotein complex. Implicated in combined oxidative phosphorylation deficiency. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TEFM in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30898986..30906238, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31844695..31868444, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29226004..29233256, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29157944-29158579 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29158580-29159216 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29159217-29159851 Neighboring gene ribosomal protein S17 pseudogene 3 Neighboring gene ATPase family AAA domain containing 5 Neighboring gene RNA, U6 small nuclear 298, pseudogene Neighboring gene MPRA-validated peak2795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29233994-29234794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29239185-29239684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8404 Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene MPRA-validated peak2796 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29284865-29285364 Neighboring gene RNA, 7SL, cytoplasmic 138, pseudogene Neighboring gene ring finger protein 135

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22729, MGC24674

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    NOT involved_in mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription elongation by mitochondrial RNA polymerase IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial nucleoid IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription elongation factor, mitochondrial
    Names
    transcription elongation factor of mitochondria

    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_024683.4NP_078959.3  transcription elongation factor, mitochondrial

      See identical proteins and their annotated locations for NP_078959.3

      Status: VALIDATED

      Source sequence(s)
      AJ314645, BQ003763, DA647699
      Consensus CDS
      CCDS42291.1
      UniProtKB/Swiss-Prot
      E1P655, Q6GPG5, Q6PJ19, Q96H04, Q96QE5, Q9H5Z9
      Related
      ENSP00000462963.1, ENST00000581216.6
      Conserved Domains (1) summary
      cl22429
      Location:77119
      HHH_5; Helix-hairpin-helix domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30898986..30906238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722084.3XP_006722147.1  transcription elongation factor, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31844695..31868444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317231.1XP_054173206.1  transcription elongation factor, mitochondrial isoform X2

      UniProtKB/Swiss-Prot
      E1P655, Q6GPG5, Q6PJ19, Q96H04, Q96QE5, Q9H5Z9
    2. XM_054317232.1XP_054173207.1  transcription elongation factor, mitochondrial isoform X1