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MTERFD3 Gene

protein-coding   GIFtS: 47
GCID: GC12M107371

MTERF Domain Containing 3

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MTERF Domain Containing 31 2
Mitochondrial Transcription Termination Factor 22 3
Mitochondrial Transcription Termination Factor-Like Protein2 3
mTERF22 3
mTERFL2 3
MTERF Domain-Containing Protein 3, Mitochondrial2

External Ids:    HGNC: 307791   Entrez Gene: 802982   Ensembl: ENSG000001208327   UniProtKB: Q49AM13   

Export aliases for MTERFD3 gene to outside databases

Previous GC identifers: GC12M105874 GC12M104431


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MTERFD3 Gene:
MTERFD3 (MTERF domain containing 3) is a protein-coding gene. GO annotations related to this gene include protein homodimerization activity and transcription regulatory region DNA binding. An important paralog of this gene is MTERF.

UniProtKB/Swiss-Prot: MTER3_HUMAN, Q49AM1
Function: Binds promoter DNA and regulates mitochondrial transcription. Required for normal levels of
transcription, both for mRNA and tRNA. Required for normal mitochondrial protein synthesis, assembly of
respiratory complexes and normal mitochondrial function (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTERFD3 gene promoter:
         p53   STAT4   NF-YA   MIF-1   NF-YB   CBF-A   CBF-B   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTERFD3 promoter sequence
   Search Chromatin IP Primers for MTERFD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTERFD3


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

Entrez Gene cytogenetic band: 12q24.1   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q24.1

MTERFD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTERFD3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M107371:  view genomic region     (about GC identifiers)

Start:
107,371,069 bp from pter      End:
107,380,944 bp from pter
Size:
9,876 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MTER3_HUMAN, Q49AM1 (See protein sequence)
Recommended Name: mTERF domain-containing protein 3, mitochondrial precursor  
Size: 385 amino acids; 44414 Da
Subunit: Monomer. Homodimer (By similarity)
Secondary accessions: Q53HM2 Q9H4L6 Q9H7Y9

Explore the universe of human proteins at neXtProt for MTERFD3: NX_Q49AM1

Explore proteomics data for MTERFD3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MTERFD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001028222.1  NP_079474.2  

    ENSEMBL proteins: 
     ENSP00000376575   ENSP00000240050   ENSP00000447651   ENSP00000448343   ENSP00000448854  
     ENSP00000448246  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003690 Mit_transcrip_term-rel

    Graphical View of Domain Structure for InterPro Entry Q49AM1

    ProtoNet protein and cluster: Q49AM1

    UniProtKB/Swiss-Prot: MTER3_HUMAN, Q49AM1
    Similarity: Belongs to the mTERF family


    Find genes that share domains with MTERFD3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTER3_HUMAN, Q49AM1
    Function: Binds promoter DNA and regulates mitochondrial transcription. Required for normal levels of
    transcription, both for mRNA and tRNA. Required for normal mitochondrial protein synthesis, assembly of
    respiratory complexes and normal mitochondrial function (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042803protein homodimerization activity IEA--
    GO:0044212transcription regulatory region DNA binding ISS--
         
    Find genes that share ontologies with MTERFD3           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mterfd3):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  muscle 

    Find genes that share phenotypes with MTERFD3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTERFD3
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    1 qRT-PCR Assays for microRNA that regulate MTERFD3:
    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidMTERFD3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTER3_HUMAN, Q49AM1: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix ISS--
    GO:0042645mitochondrial nucleoid IEA--

    Find genes that share ontologies with MTERFD3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTERFD3
    Interactions:

        Search GeneGlobe Interaction Network for MTERFD3

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

    1 Interacting protein for MTERFD3 (ENSP000002400504) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTCD1ENSP000002924784STRING: ENSP00000292478
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ISS--
    GO:0006355regulation of transcription, DNA-templated ISS--

    Find genes that share ontologies with MTERFD3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTERFD3 (MTER3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MTERFD3 gene (2 alternative transcripts): 
    NM_001033050.2  NM_025198.4  

    Unigene Cluster for MTERFD3:

    MTERF domain containing 3
    Hs.5009  [show with all ESTs]
    Unigene Representative Sequence: BC050361
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392830(uc001tmh.1) ENST00000240050(uc001tmf.1 uc001tmg.1)
    ENST00000552029(uc001tme.1) ENST00000548101 ENST00000550736 ENST00000550496
    ENST00000547115
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    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidMTERFD3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MTERFD3
      QuantiFast Probe-based Assays in human, mouse, rat MTERFD3

    Additional mRNA sequence: 

    AK024124.1 AK222558.1 AL832827.1 AY008301.1 BC008486.1 BC025984.1 BC036066.1 BC050361.1 
    BC068468.1 

    8 DOTS entries:

    DT.440857  DT.97784502  DT.100782463  DT.100782465  DT.97794020  DT.121190729  DT.86848655  DT.91910979 

    Selected AceView cDNA sequences (see all 124):

    CD364391 AI127210 BI792468 CB268445 AI281147 BE674211 AL832827 AI288331 
    C01702 BU631190 AA723291 AI431907 BU738437 AI796550 BM717116 AI681198 
    BE222547 AU120486 CD364390 AA830291 AW629809 CN479123 BQ774665 AI082605 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTERFD3 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MTERFD3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTERFD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGAAGCA
    MTERFD3 Expression
    About this image

    MTERFD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTERFD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5009

    UniProtKB/Swiss-Prot: MTER3_HUMAN, Q49AM1
    Tissue specificity: Expressed in skeletal muscle, heart, liver and pancreas

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MTERFD3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mterfd31 , 5 MTERF domain containing 31, 5 80.09(n)1
    76.36(a)1
      10 (41.63 cM)5
    742381  NM_028832.31  NP_083108.11 
     851194355 
    chicken
    (Gallus gallus)
    Aves MTERFD31 MTERF domain containing 3 68.71(n)
    67.41(a)
      418067  XM_004937811.1  XP_004937868.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTERFD36
    MTERF domain containing 3
    57(a)
    1 ↔ 1
    5(19415426-19416607)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004857031 mTERF domain-containing protein 3, mitochondrial-like 61.14(n)
    52.57(a)
      100485703  XM_002942200.2  XP_002942246.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mterfd31 MTERF domain containing 3 54(n)
    49.43(a)
      557469  NM_001044828.2  NP_001038293.2 


    ENSEMBL Gene Tree for MTERFD3 (if available)
    TreeFam Gene Tree for MTERFD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTERFD3 gene
    MTERF2  
    1 SIMAP similar gene for MTERFD3 using alignment to 4 protein entries:     MTER3_HUMAN (see all proteins):
    MTERF

    Find genes that share paralogs with MTERFD3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTERFD3 (see all 261)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs784192491,2
    C,F--107370590(+) TTCCAG/ATTCAC 2 -- ds50012Minor allele frequency- A:0.07WA NA 238
    rs1492541061,2
    C--107370677(+) CAGTTC/G/TCCTCA 2 -- ds50010--------
    rs1123903971,2
    F--107370835(+) CCAAAC/TACAAG 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1473499541,2
    --107370932(+) GTAGAG/TTGATG 2 -- ds50010--------
    rs30685311,2
    C--107370955(+) TAGTG-/AGAA  
            
    AGACT
    2 -- ds50010--------
    rs595122151,2
    C--107370958(+) TGAGA-/AAGA  
            
    CTGGA
    2 -- ds50010--------
    rs754920461,2
    C--107370958(+) TGAGAA/GAGACT 2 -- ds50010--------
    rs1842785541,2
    --107371021(+) CTTGAA/GTTAAG 2 -- ds50010--------
    rs757649491,2
    C,F--107371040(+) TGTCCA/GTTTCT 2 -- ds50012Minor allele frequency- G:0.08WA NA 238
    rs1146092491,2
    F--107371041(+) GTCCAT/CTTCTT 2 -- ds50011Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for MTERFD3 (107371069 - 107380944 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MTERFD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv437155CNV Loss16327808

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTERFD3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with MTERFD3           About GenesLikeMe

    Genetic Association Database (GAD): MTERFD3
    Human Genome Epidemiology (HuGE) Navigator: MTERFD3 (1 document)

    Export disorders for MTERFD3 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)
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    PubMed articles for MTERFD3 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with MTERFD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional analysis of human mTERFL encoding a novel mitochondrial transcription termination factor-like protein. (PubMed id 16226716)1, 2, 9 Chen Y....Tan D. (Biochem. Biophys. Res. Commun. 2005)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. 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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication. (PubMed id 20577816)1 HyvAorinen A.K....Jacobs H.T. (Mol. Biol. Rep. 2011)
    7. Structure of mitochondrial transcription termination factor 3 reveals a novel nucleic acid-binding domain. (PubMed id 20430012)1 Spaahr H.... Gustafsson C.M. (Biochem. Biophys. Res. Commun. 2010)
    8. MTERF2 is a nucleoid component in mammalian mitochondria. (PubMed id 19366608)2 Pellegrini M.... Gustafsson C.M. (Biochim. Biophys. Acta 2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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: 80298 HGNC: 30779 AceView: LOC80298 Ensembl:ENSG00000120832 euGenes: HUgn80298
    ECgene: MTERFD3 H-InvDB: MTERFD3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTERFD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MTERFD3 gene:
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