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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTERF Gene

protein-coding   GIFtS: 53
GCID: GC07M091500

mitochondrial transcription termination factor

 Explore 8 diseases affiliated with
MTERF via our new
 Human Malady Compendium 
Biological research products
for MTERF
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mitochondrial Transcription Termination Factor1 2
Mitochondrial Transcription Termination Factor 12 3
Transcription Termination Factor, Mitochondrial2
MTERF1

External Ids:    HGNC: 214631   Entrez Gene: 79782   Ensembl: ENSG000001279897   OMIM: 6023185   UniProtKB: Q995513   

Export aliases for MTERF gene to outside databases

Previous GC identifers: GC07M090037 GC07M090766 GC07M091114 GC07M091112 GC07M091146 GC07M091340 GC07M086109


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTERF:
This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating
transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA
relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic
domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in
intramolecular interactions that establish the three-dimensional structure required for DNA binding. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MTERF_HUMAN, Q99551
Function: Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position
immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for
directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding.
Promotes base flipping. Probably requires one or more components for termination activity

Gene Wiki entry for MTERF


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTERF gene promoter:
         AhR   TBP   FOXD3   POU3F2 (N-Oct-5b)   CUTL1   POU3F2   Arnt   TFIID   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MTERF promoter sequence
   Search SABiosciences Chromatin IP Primers for MTERF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTERF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21-q22   Ensembl cytogenetic band:  7q21.2   HGNC cytogenetic band: 7q21-q22

MTERF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTERF gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M091500:  view genomic region     (about GC identifiers)

Start:
91,500,243 bp from pter      End:
91,510,034 bp from pter
Size:
9,792 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 90,832,721-90,840,716     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MTERF_HUMAN, Q99551 (See protein sequence)
Recommended Name: Transcription termination factor, mitochondrial precursor  
Size: 399 amino acids; 45778 Da
Subunit: Monomer
Subcellular location: Mitochondrion
4 PDB 3D structures from and Proteopedia for MTERF:
3MVA (3D)        3MVB (3D)        3N6S (3D)        3N7Q (3D)    
Secondary accessions: A4D1E3 Q32NF8 Q53H51 Q9BVR7

Explore the universe of human proteins at neXtProt for MTERF: NX_Q99551

Post-translational modifications:

  • Phosphoprotein with mostly four phosphate groups. While the DNA-binding activity is unaffected by the phosphorylation
  • state, only the phosphorylated form of the protein is active for termination activity. Functioning seems to be
    regulated by phosphorylation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99551

  • MTERF Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_008911.1  
    ENSEMBL proteins: 
     ENSP00000414116   ENSP00000248643   ENSP00000384986   ENSP00000402175   ENSP00000395097  
     ENSP00000400966  
    Reactome Protein details: Q99551
    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MTERF

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS9118945
    GO:0005759mitochondrial matrix TAS--
    GO:0042645mitochondrial nucleoid IDA18063578


    MTERF for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MTERF for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003690 Mit_transcrip_term-rel

    Graphical View of Domain Structure for InterPro Entry Q99551

    ProtoNet protein and cluster: Q99551

    UniProtKB/Swiss-Prot: MTERF_HUMAN, Q99551
    Domain: Contains nine structural repeats of about 35 residues, where each repeat contains three helices. The repeats
    form a left-handed superhelical assembly with a solenoid structure that wraps itself around DNA
    Similarity: Belongs to the mTERF family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MTERF_HUMAN, Q99551
    Function: Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position
    immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for
    directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding.
    Promotes base flipping. Probably requires one or more components for termination activity

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding IDA--
    GO:0005515protein binding IPI--


    MTERF for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MTERF:
     Increased S DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Mitochondrial transcription termination
    Mitochondrial transcription termination1.00
    2Transcription
    Transcription1.00
    3Transcription from mitochondrial promoters
    Transcription from mitochondrial promoters1.00
    4RNA Polymerase III Transcription Initiation
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.59
    5Generic Transcription Pathway
    Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for MTERF
        Mitochondrial transcription termination
    Transcription from mitochondrial promoters
    Transcription
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
    Gene Expression



    MTERF for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTERF

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/241 Interacting proteins for MTERF (Q995511, 2, 3 ENSP000002486434) via UniProtKB, MINT, STRING, and/or I2D (see all 241)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJC21Q5F1R61, 3EBI-2690033,EBI-2654581 I2D: score=1 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ANK2Q014843I2D: score=1 
    CTNNAL1Q9UBT73I2D: score=1 
    DCTN1Q142033I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006353DNA-dependent transcription, termination IDA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006390transcription from mitochondrial promoter TAS--
    GO:0006393termination of mitochondrial transcription TAS--
    GO:0010467gene expression TAS--


    MTERF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MTERF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTERF
    2 Novoseek chemical compound relationships for MTERF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-adenosylmethionine 47.2 1 11809803 (1)
    rrna 43.7 1 1584755 (1)

    Search CenterWatch for drugs/clinical trials and news about MTERF 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTERF gene: 
    NM_006980.3  

    Unigene Cluster for MTERF:

    Mitochondrial transcription termination factor
    Hs.532216  [show with all ESTs]
    Unigene Representative Sequence: AL832861
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000419292(uc003ulc.1 uc011khm.1 uc010leu.1) ENST00000351870
    ENST00000406735 ENST00000456229 ENST00000442961 ENST00000425936 ENST00000481516


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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTERF
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    Additional cDNA sequence: 

    AK222730.1 AK298469.1 AK311568.1 AK313641.1 AL832861.1 BC000965.3 BC108648.1 BC130389.1 
    BC130391.1 Y09615.1 

    9 DOTS entries:

    DT.95189567  DT.210848  DT.121056782  DT.91744176  DT.100752012  DT.121056831  DT.95348269  DT.100734944 
    DT.121056789 

    24/87 AceView cDNA sequences (see all 87):

    AI041411 AL832861 CR608572 BE219491 BM722850 CB160953 CF529904 BG940796 
    BU740531 BQ221481 CA941517 AA988723 AI801961 CR596059 CA446435 BU902561 
    BU689718 AA564440 CD356882 AI418371 AI377335 AW665465 Y09615 AA248860 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MTERF    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c
    SP1:                    -     -           -     -     -                     
    SP2:                                      -                                 
    SP3:                    -     -     -     -     -     -                     
    SP4:                          -     -     -     -     -                     
    SP5:                                                                        


    ECgene alternative splicing isoforms for MTERF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTERF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MTERF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTERF

    SOURCE GeneReport for Unigene cluster: Hs.532216
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTERF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MTERF gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia MTERF6
    --
    46(a)
    1 ↔ 1
    6(20958382-20959572)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.150292 Xenopus laevis transcribed sequence with weak similarity more 70.51(n)    BJ068643.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005369971 transcription termination factor, mitochondrial-like 51.66(n)
    46.49(a)
      100536997  XM_003200502.1  XP_003200550.1 


    ENSEMBL Gene Tree for MTERF (if available)
    TreeFam Gene Tree for MTERF (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTERF gene
    MTERFD32  
    1 SIMAP similar gene for MTERF using alignment to 5 protein entries:     MTERF_HUMAN (see all proteins):
    MTERFD3

    MTERF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MTERF
    PGOHUM00000238046


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/171 NCBI SNPs in MTERF are shown (see all 171    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437805411,2
    --91501528(+) TGAACC/TGTGTT 1 -- ds50010--------
    rs77868891,2
    C,A--91501533(+) TGTGTC/TAGACT 1 -- ds50010--------
    rs1481332451,2
    --91501567(+) GAATTA/GTGTAT 1 -- ds50010--------
    rs1419015041,2
    --91501851(+) GTATCA/GTTGAA 1 -- ds50010--------
    rs1845302871,2
    --91501861(+) ATATAC/TAAATG 1 -- ds50010--------
    rs1890669571,2
    --91501869(+) ATGGCC/TTTAGA 1 -- ds50010--------
    rs78077451,2
    A--91501886(+) GACATA/GTTGTT 1 -- ds50010--------
    rs78083371,2
    C,A,H--91502049(+) CTCACG/ATCTTT 1 -- ut31 ese36Minor allele frequency- A:0.00NS EA NA 422
    rs1813894471,2
    --91502069(+) TCAGAA/GCTAGA 1 -- ut310--------
    rs119833321,2
    C,H--91502250(+) TTTAGT/GTTTTT 1 -- ut314Minor allele frequency- G:0.00NS EA 386

    HapMap Linkage Disequilibrium report for MTERF (91500243 - 91510034 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MTERF: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTERF
    DNA2.0 Custom Variant and Variant Library Synthesis for MTERF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MTERF for disorders           About GeneDecksing

    OMIM gene information: 602318    OMIM disorders: --

    8 diseases for MTERF:    About MalaCards
    melas syndrome    epithelial ovarian cancer    myocardial infarction    ovarian cancer
    obesity    thyroiditis    leukemia    memory impairment

    1 disease from the University of Copenhagen DISEASES database for MTERF:
    MELAS syndrome

    1 Novoseek disease relationship for MTERF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heart failure 10.1 2 14660709 (1), 16043643 (1)

    Human Genome Epidemiology (HuGE) Navigator: MTERF (2 documents)

    Export disorders for MTERF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTERF gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with MTERF)
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    1. The human mitochondrial transcription termination factor (mTERF) is fully active in vitro in the non-phosphorylated form. (PubMed id 15899902)1, 3, 9 Asin-Cayuela J....Gustafsson C.M. (2005)
    2. The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions. (PubMed id 9118945)1, 2, 9 Fernandez-Silva P.... Attardi G. (1997)
    3. Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. (PubMed id 20550934)1, 2 Yakubovskaya E....Garcia-Diaz M. (2010)
    4. Human mitochondrial mTERF wraps around DNA through a left-handed superhelical tandem repeat. (PubMed id 20543826)1, 2 JimAcnez-MenAcndez N....SolA M. (2010)
    5. Phosphorylation of rat mitochondrial transcription termination factor (mTERF) is required for transcription termination but not for binding to DNA. (PubMed id 15087485)1, 2 Prieto-Martin A.... Martinez-Azorin F. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. A monomer-to-trimer transition of the human mitochondrial transcription termination factor (mTERF) is associated with a loss of in vitro activity. (PubMed id 14744862)1, 3 Asin-Cayuela J....Attardi G. (2004)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    10. Molecular characterization of the transcription termination factor from human mitochondria. (PubMed id 7681833)1, 3 Daga A....Attardi G. (1993)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7978 HGNC: 21463 AceView: MTERF Ensembl:ENSG00000127989 euGenes: HUgn7978
    ECgene: MTERF H-InvDB: MTERF

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for MTERF Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MTERF gene:
    Search GeneIP for patents involving MTERF

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