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

Gene ID: 7019, updated on 12-Aug-2018

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; 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]
Expression
Ubiquitous expression in testis (RPKM 11.2), thyroid (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See TFAM in Genome Data Viewer
Location:
10q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC112268068 Neighboring gene CDGSH iron sulfur domain 1 Neighboring gene Sharpr-MPRA regulatory region 7957 Neighboring gene ubiquitin conjugating enzyme E2 D1 Neighboring gene uncharacterized LOC105378316 Neighboring gene uncharacterized LOC107984234 Neighboring gene BicC family RNA binding protein 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding, bending IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA binding HDA PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
heat shock protein binding IEA
Inferred from Electronic Annotation
more info
 
mitochondrial promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial sequence-specific DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
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 HDA PubMed 
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)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011540121.3XP_011538423.1  transcription factor A, mitochondrial isoform X1

    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

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.
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