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

    Gene ID: 7019, updated on 5-Aug-2022

    Summary

    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; AllianceGenome:HGNC:11741
    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]
    Expression
    Ubiquitous expression in testis (RPKM 11.2), thyroid (RPKM 9.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TFAM in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58385410..58399220)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59239514..59253326)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60145170..60158980)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268068 Neighboring gene Sharpr-MPRA regulatory region 7957 Neighboring gene ubiquitin conjugating enzyme E2 D1 Neighboring gene uncharacterized LOC105378316 Neighboring gene uncharacterized LOC124902427

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding, bending IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heat shock protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitochondrial promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mitochondrial transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription coactivator binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix IC
    Inferred by Curator
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5268..19078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270782.2NP_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
      Consensus CDS
      CCDS59217.1
      UniProtKB/Swiss-Prot
      Q00059
      Related
      ENSP00000363002.3, ENST00000373895.7
      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_003201.3NP_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, M62810
      Consensus CDS
      CCDS7253.1
      UniProtKB/Swiss-Prot
      Q00059, Q5U0C6
      UniProtKB/TrEMBL
      E5KSU5
      Related
      ENSP00000420588.1, ENST00000487519.6
      Conserved Domains (2) summary
      cd01390
      Location:155216
      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 chromosomal ...
      pfam00505
      Location:50117
      HMG_box; HMG (high mobility group) box

    RNA

    1. NR_073073.2 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      58385410..58399220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425697.1XP_047281653.1  transcription factor A, mitochondrial isoform X1

    2. XM_011540121.4XP_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 T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      59239514..59253326
      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.