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TFAM Gene

protein-coding   GIFtS: 65
GCID: GC10P060146

Transcription Factor A, Mitochondrial


(Previous symbols: TCF6, TCF6L2)
  See TFAM-related diseases
at  

(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transcription Factor A, Mitochondrial1 2     Mitochondrial Transcription Factor A2
TCF61 2 3 5     Transcription Factor 6-Like 12
TCF6L21 2 3 5     Transcription Factor 6-Like 2 (Mitochondrial Transcription Factor)2
Mitochondrial Transcription Factor 12 3     Transcription Factor 6-Like 32
Transcription Factor 62 3     MtTF13
MTTF12 5     TCF-63
TCF6L12 5     mtTFA3
TCF6L32 5     Transcription Factor 6-Like 23
MTTFA2     

External Ids:    HGNC: 117411   Entrez Gene: 70192   Ensembl: ENSG000001080647   OMIM: 6004385   UniProtKB: Q000593   
ORGUL members:         

Export aliases for TFAM gene to outside databases

Previous GC identifers: GC10P058940 GC10P059170 GC10P060037 GC10P059490 GC10P059491 GC10P059815 GC10P054134


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TFAM Gene:
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded
protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are
associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7,
and 11. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2012)

GeneCards Summary for TFAM Gene:
TFAM (transcription factor A, mitochondrial) is a protein-coding gene. Diseases associated with TFAM include extrahepatic cholestasis, and autosomal dominant progressive external ophthalmoplegia. GO annotations related to this gene include DNA binding, bending and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059
Function: Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription
regulation. Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase.
Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of
transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a
U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role
in organizing and compacting mitochondrial DNA

Gene Wiki entry for TFAM Gene


(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_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the TFAM gene promoter:
         AhR   Sp1   Arnt   C/EBPalpha   CHOP-10   IRF-2   POU2F1   FOXC1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTFAM promoter sequence
   Search Chromatin IP Primers for TFAM

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


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

Entrez Gene cytogenetic band: 10q21   Ensembl cytogenetic band:  10q21.1   HGNC cytogenetic band: 10q21

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P060146:  view genomic region     (about GC identifiers)

Start:
60,144,782 bp from pter      End:
60,158,981 bp from pter
Size:
14,200 bases      Orientation:
plus 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059 (See protein sequence)
Recommended Name: Transcription factor A, mitochondrial precursor  
Size: 246 amino acids; 29097 Da
Subunit: Monomer; binds DNA as a monomer. Interacts with TFB1M and TFB2M
5 PDB 3D structures from and Proteopedia for TFAM:
3FGH (3D)        3TMM (3D)        3TQ6 (3D)        4NNU (3D)        4NOD (3D)    
Secondary accessions: A8MRB2 A9QXC6 B5BU05 Q5U0C6
Alternative splicing: 2 isoforms:  Q00059-1   Q00059-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for TFAM: NX_Q00059

Explore proteomics data for TFAM at MOPED

Post-translational modifications: 

  • Phosphorylation by PKA within the HMG box 1 impairs DNA binding and promotes degradation by the AAA+ Lon protease1
  • Ubiquitination2 at Lys52, Lys62, Lys76, Lys118
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001257711.1  NP_003192.1  

    ENSEMBL proteins: 
     ENSP00000420588   ENSP00000363002   ENSP00000378776  
    Reactome Protein details: Q00059

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    antibodies-online peptides for TFAM

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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:
     IPR009071 HMG_box_dom

    Graphical View of Domain Structure for InterPro Entry Q00059

    ProtoNet protein and cluster: Q00059

    UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059
    Domain: Binds DNA via its HMG boxes. When bound to the mitochondrial light strand promoter, bends DNA into a
    U-turn shape, each HMG box bending the DNA by 90 degrees
    Similarity: Contains 2 HMG box DNA-binding domains


    Find genes that share domains with TFAM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: TFAM_HUMAN, Q00059
    Function: Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription
    regulation. Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase.
    Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of
    transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a
    U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role
    in organizing and compacting mitochondrial DNA

         Genatlas biochemistry entry for TFAM:
    transcription factor A,mitochondrial

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IDA18063578
    GO:0003700sequence-specific DNA binding transcription factor activity IMP--
    GO:0005515protein binding IPI12897151
    GO:0008301DNA binding, bending IDA--
         
    Find genes that share ontologies with TFAM           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tfam):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     vision/eye 

    Find genes that share phenotypes with TFAM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tfamtm1.1Lrsn for TFAM

       genOway: Develop your customized and physiologically relevant rodent model for TFAM

    miRNA
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    miRTarBase miRNAs that target TFAM:
    hsa-mir-26a-5p (MIRT050062), hsa-mir-484 (MIRT041703), hsa-mir-15a-3p (MIRT038986), hsa-mir-92a-3p (MIRT049528), hsa-mir-34a-5p (MIRT047391)

    Block miRNA regulation of human, mouse, rat TFAM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TFAM (see all 14):
    hsa-miR-222* hsa-miR-199b-3p hsa-miR-769-5p hsa-miR-586 hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-548m hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidTFAM 3' UTR sequence
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    Addgene plasmids for TFAM 

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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
    TFAM_HUMAN, Q00059: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2
    extracellular1
    peroxisome1

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

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

    Find genes that share ontologies with TFAM           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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    SuperPaths for TFAM About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    Transcription from mitochondrial promoters0.00
    Mitochondrial transcription initiation0.00
    2Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    3ERK Signaling
    MAPK Signaling0.58
    ILK Signaling0.49
    4PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    5TGF-Beta Pathway
    JNK Pathway0.51


    Find genes that share SuperPaths with TFAM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TFAM (see all 8)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    PGC1Alpha Pathway
    Human Embryonic Stem Cell Pluripotency

    2 Cell Signaling Technology (CST) Pathways for TFAM
        Chromatin Regulation / Acetylation
    Neuroscience

    2 BioSystems Pathways for TFAM
        Mitochondrial Gene Expression
    Energy Metabolism


    2 Reactome Pathways for TFAM
        Transcriptional activation of mitochondrial biogenesis
    Mitochondrial transcription initiation


    1 Kegg Pathway  (Kegg details for TFAM):
        Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFAM
    Interactions:

        GeneGlobe Interaction Network for TFAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TFAM (Q000591, 2, 3 ENSP000004205884) via UniProtKB, MINT, STRING, and/or I2D (see all 298)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFB1MQ8WVM01, 2, 3, ENSP000003561344EBI-1049924,EBI-2615570 MINT-8079030 I2D: score=3 STRING: ENSP00000356134
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    TFB2MQ9H5Q43, ENSP000003554714I2D: score=3 STRING: ENSP00000355471
    PNPP004913, ENSP000003545324I2D: score=2 STRING: ENSP00000354532
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006261DNA-dependent DNA replication TAS8333869
    GO:0006356regulation of transcription from RNA polymerase I promoter TAS8333869
    GO:0006390transcription from mitochondrial promoter TAS--
    GO:0006391transcription initiation from mitochondrial promoter TAS--
    GO:0010467gene expression TAS--

    Find genes that share ontologies with TFAM           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 TFAM

    Selected Novoseek inferred chemical compound relationships for TFAM gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrate 49.8 6 20100740 (1), 16807301 (1), 17327447 (1), 11692267 (1)
    atp 49.4 7 12803480 (1), 11167019 (1), 11181630 (1), 19496804 (1) (see all 6)
    aicar 48.4 2 16380484 (1), 15294043 (1)
    diethyl dithiocarbamate 38.3 4 7849699 (1), 18206854 (1)
    oxygen 34.2 2 19496804 (1), 19925850 (1)
    nadh 17.7 2 12198131 (1), 20107110 (1)
    glucose 9.92 3 18000087 (1), 11733104 (1), 11955630 (1)
    pyruvate 2.44 1 7849699 (1)
    lactate 1.33 1 11934266 (1)
    calcium 0 4 12665481 (2), 16210000 (1), 15965058 (1)



    Find genes that share compounds with TFAM           About GenesLikeMe



    (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 TFAM gene (3 alternative transcripts): 
    NM_001270782.1  NM_003201.2  NM_012251.1  

    Unigene Cluster for TFAM:

    Transcription factor A, mitochondrial
    Hs.594250  [show with all ESTs]
    Unigene Representative Sequence: NR_073073
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487519(uc001jkf.3 uc001jkg.3) ENST00000373899 ENST00000373895
    ENST00000395377
    miRNA
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    hsa-miR-222* hsa-miR-199b-3p hsa-miR-769-5p hsa-miR-586 hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-548m hsa-miR-183*
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    Additional mRNA sequence: 

    AB451241.1 AB451366.1 AK312558.1 BC018628.1 BC029815.1 BC104482.1 BC126366.1 BT019658.1 
    BT019659.1 CR407653.1 EU279428.1 M62810.1 NR_073073.1 

    10 DOTS entries:

    DT.216228  DT.310513  DT.100651006  DT.91788791  DT.100651007  DT.100863222  DT.121265659  DT.95102053 
    DT.310514  DT.423031 

    Selected AceView cDNA sequences (see all 291):

    AU107230 BG943593 AA460575 T28290 AA316997 AI092542 CR603240 AU100090 
    BU193716 BQ423888 AA449118 CR592676 W93826 BM473719 AW629507 BF747741 
    AI928504 F30466 AA398622 BM455062 F05181 BQ022239 C05173 BQ574138 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TFAM    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                -                                             
    SP2:                                -                 -     -                     
    SP3:                          -     -                                             
    SP4:                                                                              


    ECgene alternative splicing isoforms for TFAM

    (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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    TFAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATTTAGT
    TFAM Expression
    About this image


    TFAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    TFAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFAM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.594250
        Custom PCR Arrays for TFAM
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAM

    (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 animals.

    Orthologs for TFAM gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfam1 , 5 transcription factor A, mitochondrial1, 5 73.31(n)1
    63.56(a)1
      10 (36.83 cM)5
    217801  NM_009360.41  NP_033386.11 
     712254645 
    chicken
    (Gallus gallus)
    Aves TFAM1 transcription factor A, mitochondrial 55.8(n)
    44.49(a)
      373888  NM_204100.1  NP_989431.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFAM6
    transcription factor A, mitochondrial
    42(a)
    1 ↔ 1
    GL343378.1(49898-60865)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tfam1 transcription factor A, mitochondrial 53.78(n)
    43.56(a)
      100135718  XM_002937102.2  XP_002937148.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tfam1 transcription factor A, mitochondrial 54.35(n)
    45.32(a)
      571106  NM_001077389.1  NP_001070857.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta TFAM1 mitochondrial transcription factor A 44.38(n)
    35.87(a)
      42433  NM_079691.3  NP_524415.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TFAM gene
    1 SIMAP similar gene for TFAM using alignment to 7 protein entries:     TFAM_HUMAN (see all proteins):
    SMARCE1

    Find genes that share paralogs with TFAM           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for TFAM
    PGOHUM00000242476 PGOHUM00000233097


    (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 TFAM (see all 328)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497406881,2
    --60142977(+) ACAAAC/TTGGGG 3 -- us2k10--------
    rs110061271,2
    C,F,H--60143021(+) TACTGG/TCCTGA 3 -- us2k122Minor allele frequency- T:0.13NS EA NA WA 2766
    rs777459391,2
    C,F--60143049(+) GGGACT/CAGAGA 3 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1478307481,2
    --60143069(+) ACATAC/TTAGAG 3 -- us2k10--------
    rs1413078591,2
    --60143250(+) ATTTTC/GTTCAG 3 -- us2k10--------
    rs732883911,2
    C,F--60143276(+) AAGTAC/TTTGTG 3 -- us2k13Minor allele frequency- T:0.08WA CSA 122
    rs1469620581,2
    --60143319(+) GGTTAC/TGTGGA 3 -- us2k10--------
    rs1475785281,2
    --60143348(+) GGACTC/GGGTTC 3 -- us2k10--------
    rs764638961,2
    F--60143508(+) TGGATA/GAAGTT 3 -- us2k11Minor allele frequency- G:0.06WA 118
    rs177109001,2
    C,F--60144022(+) AGAAGT/CAGGCT 3 -- us2k15Minor allele frequency- C:0.01NA 146

    HapMap Linkage Disequilibrium report for TFAM (60144782 - 60158981 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TFAM: --
    Human Gene Mutation Database (HGMD): TFAM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TFAM
    DNA2.0 Custom Variant and Variant Library Synthesis for TFAM

    (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.)
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    OMIM gene information: 600438    OMIM disorders: --

    2 diseases for TFAM:    
    About MalaCards
    extrahepatic cholestasis    autosomal dominant progressive external ophthalmoplegia

    1 disease from the University of Copenhagen DISEASES database for TFAM:
    Mitochondrial myopathy

    Find genes that share disorders with TFAM           About GenesLikeMe

    9 Novoseek inferred disease relationships for TFAM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    respiratory chain deficiency 67.5 3 11259653 (1)
    mitochondrial diseases 46.2 1 11213524 (1)
    mitochondrial myopathies 29 2 8185589 (1)
    myopathy 20.6 1 12428064 (1)
    insulin resistance 20 1 20202876 (1)
    parkinson disease 13.3 3 17537576 (1), 19925850 (1), 18248889 (1)
    dilated cardiomyopathy 11.4 1 19096125 (1)
    tumors 0 7 12198131 (2), 14550271 (1), 19755502 (1), 12964965 (1) (see all 5)
    obesity 0 2 20200320 (1), 19056573 (1)

    Genetic Association Database (GAD): TFAM
    Human Genome Epidemiology (HuGE) Navigator: TFAM (25 documents)

    Export disorders for TFAM 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 TFAM gene, integrated from 10 sources (see all 242):
    (articles sorted by number of sources associating them with TFAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural analysis and DNA binding of the HMG domains of the human mitochondrial transcription factor A. (PubMed id 19304746)1, 2, 9 Gangelhoff T.A.... Churchill M.E. (Nucleic Acids Res. 2009)
    2. Mitochondrial transcription factor A variants and the risk of Parkinson's disease. (PubMed id 19925850)1, 4, 9 Gaweda-Walerych K....Zekanowski C. (Neurosci. Lett. 2010)
    3. Maternal pregestational BMI is associated with methylation of the PPARGC1A promoter in newborns. (PubMed id 19148128)1, 4, 9 Gemma C....Pirola C.J. (Obesity (Silver Spring) 2009)
    4. Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. (PubMed id 19096125)1, 4, 9 Alonso-Montes C....Coto E. (Dis. Markers 2008)
    5. Mitochondrial transcription factor A (TFAM) gene variation and risk of late-onset Alzheimer's disease. (PubMed id 18430995)1, 4, 9 Alvarez V....Coto E. (J. Alzheimers Dis. 2008)
    6. Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease. (PubMed id 18248889)1, 4, 9 Alvarez V....Coto E. (Neurosci. Lett. 2008)
    7. Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. (PubMed id 17537576)1, 4, 9 Belin A.C....Olson L. (Neurosci. Lett. 2007)
    8. Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease. (PubMed id 15464268)1, 4, 9 GA1nther C....Finckh U. (Neurosci. Lett. 2004)
    9. Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. (PubMed id 7789991)1, 3, 9 Tiranti V.... Zeviani M. (Genomics 1995)
    10. Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease. (PubMed id 23201127)1, 2 Lu B.... Suzuki C.K. (Mol. Cell 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 7019 HGNC: 11741 AceView: TFAM Ensembl:ENSG00000108064 euGenes: HUgn7019
    ECgene: TFAM Kegg: 7019 H-InvDB: TFAM

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TFAM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TFAM gene:
    Search GeneIP for patents involving TFAM

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



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