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

Gene ID: 7019, updated on 5-Sep-2021

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
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:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (58385409..58399220)
105.20201022 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 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 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 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)

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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
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    58385409..58399220
    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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