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    TFAM transcription factor A, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 7019, updated on 6-Aug-2017
    Official Symbol
    TFAMprovided by HGNC
    Official Full Name
    transcription factor A, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:11741
    See related
    Ensembl:ENSG00000108064 MIM:600438; Vega:OTTHUMG00000018270
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCF6; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; MTDPS15
    Summary
    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]
    Orthologs
    Location:
    10q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (58385143..58399230)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60144903..60158990)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate multikinase Neighboring gene CDGSH iron sulfur domain 1 Neighboring gene ubiquitin conjugating enzyme E2 D1 Neighboring gene uncharacterized LOC105378316 Neighboring gene uncharacterized LOC107984234 Neighboring gene BicC family RNA binding protein 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
    MedGen: C4310690 OMIM: 617156 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    NHGRI GWA Catalog
    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Mitochondrial Gene Expression, organism-specific biosystem (from WikiPathways)
      Mitochondrial Gene Expression, organism-specific biosystemNumerous nuclear-encoded genes co-ordinate the expression of genes encoded on the mitochondrial genome.
    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
    • Mitochondrial transcription initiation, organism-specific biosystem (from REACTOME)
      Mitochondrial transcription initiation, organism-specific biosystemHuman mtDNA is transcribed by a dedicated mitochondrial RNA polymerase (POLRMT), which displays significant sequence similarity to the monomeric RNA polymerases found in bacteriophages. In contrast t...
    • NAD metabolism, sirtuins and aging, organism-specific biosystem (from WikiPathways)
      NAD metabolism, sirtuins and aging, organism-specific biosystemA model for DNA damage, inflammation, NAD+, and aging. Two key events, the activation of PARP by DNA damage and the decreased NAMPT expression associated with inflammation, lead to decreased SIRT1 an...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystem (from REACTOME)
      RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystemTranscription by RNA Polymerase I, RNA Polymerase III and transcription from mitochondrial promoters.
    • Transcription from mitochondrial promoters, organism-specific biosystem (from REACTOME)
      Transcription from mitochondrial promoters, organism-specific biosystemThirteen of the ~80 different proteins present in the respiratory chain of human mitochondria are encoded by the mitochondrial genome (mtDNA). The circular mtDNA, which is present in 1000 to 10000 co...
    • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcription factor A, mitochondrial
    Names
    mitochondrial transcription factor 1
    mitochondrial transcription factor A
    transcription factor 6
    transcription factor 6-like 1
    transcription factor 6-like 2 (mitochondrial transcription factor)
    transcription factor 6-like 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053006.1 RefSeqGene

      Range
      5001..19088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270782.1NP_001257711.1  transcription factor A, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as tr6 or delta 5TFam) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC023170, BM455062, CN478914, DB456976
      Consensus CDS
      CCDS59217.1
      UniProtKB/Swiss-Prot
      Q00059
      Related
      ENSP00000363002.3, OTTHUMP00000019634, ENST00000373895.7, OTTHUMT00000048148
      Conserved Domains (2) summary
      pfam00505
      Location:50117
      HMG_box; HMG (high mobility group) box
      cl00082
      Location:156186
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
    2. NM_003201.2NP_003192.1  transcription factor A, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_003192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as ref) encodes the longer isoform (1).
      Source sequence(s)
      AC023170, CN478914, DB456976, M62810
      Consensus CDS
      CCDS7253.1
      UniProtKB/Swiss-Prot
      Q00059
      UniProtKB/TrEMBL
      E5KSU5
      Related
      ENSP00000420588.1, OTTHUMP00000019633, ENST00000487519.5, OTTHUMT00000048146
      Conserved Domains (2) summary
      cd01390
      Location:155216
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      pfam00505
      Location:50117
      HMG_box; HMG (high mobility group) box

    RNA

    1. NR_073073.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as tr2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC023170, BC029815, CN478914, DB456976

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      58385143..58399230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540120.2XP_011538422.1  transcription factor A, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam00505
      Location:50117
      HMG_box; HMG (high mobility group) box
    2. XM_011540121.2XP_011538423.1  transcription factor A, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011538423.1

      Conserved Domains (1) summary
      pfam00505
      Location:50117
      HMG_box; HMG (high mobility group) box

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      60426687..60440776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_012251.1: Suppressed sequence

      Description
      NM_012251.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Support Center