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

MTERFD3 Gene

protein-coding   GIFtS: 46
GCID: GC12M107371

MTERF Domain Containing 3

  Search for MTERFD3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MTERFD3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q49AM1

  • MTERFD3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTERFD3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001028222.1  NP_079474.2  

    ENSEMBL proteins: 
     ENSP00000376575   ENSP00000240050   ENSP00000447651   ENSP00000448343   ENSP00000448854  
     ENSP00000448246  

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    Cloud-Clone Corp. Proteins for MTERFD3 

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

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

    MTERFD3 for ontologies           About GeneDecksing



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


    MTERFD3 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042803protein homodimerization activity IEA--
    GO:0044212transcription regulatory region DNA binding ISS--
         
    MTERFD3 for ontologies           About GeneDecksing


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

    MTERFD3 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTERFD3

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    MTERFD3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTERFD3 (MTER3)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/124 AceView cDNA sequences (see all 124):

    AI431907 AW085154 CK429278 AU120486 AW629809 AK024124 BI792468 AI420599 
    BE222547 CB268445 CN479123 AI167895 AL832827 AY008301 AA830291 BF512961 
    AA723291 CR611895 C01702 AI694029 AI281147 AA682312 AA620357 AI288331 

    GeneLoc Exon Structure

    5/6 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™, 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

    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


    See MTERFD3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTERFD3

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MTERFD3 gene from 4/10 species (see all 10)    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_416303.3  XP_416303.2 
    lizard
    (Anolis carolinensis)
    Reptilia MTERFD36
    Uncharacterized protein
    57(a)
    1 ↔ 1
    5(19415426-19416607)
    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)
    About This Section
    Paralogs for MTERFD3 gene
    MTERF2  
    1 SIMAP similar gene for MTERFD3 using alignment to 4 protein entries:     MTER3_HUMAN (see all proteins):
    MTERF

    MTERFD3 for paralogs           About GeneDecksing



    (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) 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

    10/261 SNPs in MTERFD3 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MTERFD3 for disorders           About MalaCards

    MTERFD3 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MTERFD3 gene, integrated from 9 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. (2005)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2002)
    6. Overexpression of MTERFD1 or MTERFD3 impairs the comp letion of mitochondrial DNA replication. (PubMed id 20577816)1 HyvAorinen A.K....Jacobs H.T. (2011)
    7. Structure of mitochondrial transcription termination factor 3 reveals a novel nucleic acid-binding domain. (PubMed id 20430012)1 SpAYhr H....Gustafsson C.M. (2010)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80298 HGNC: 30779 AceView: LOC80298 Ensembl:ENSG00000120832 euGenes: HUgn80298
    ECgene: MTERFD3 H-InvDB: MTERFD3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTERFD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTERFD3 gene:
    Search GeneIP for patents involving MTERFD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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