TFAM Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TFAM |
| Official Name | transcription factor A, mitochondrial [Source:HGNC Symbol;Acc:HGNC:11741] |
| Ensembl ID | ENSG00000108064 |
| Bio databases IDs | |
| Aliases | transcription factor A, mitochondrial |
| Synonyms | Hmgts, MTDPS15, MTFA, MTTF1, MTTFA, TCF6, TCF6L1, TCF6L2, TCF6L3, Tfa, transcription factor A, mitochondrial, tsHMG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TFAM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- heat shock protein binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- Box I domain
- double-stranded DNA binding
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
Pathways
Biological processes and signaling networks where the TFAM gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- motor dysfunction
- rheumatoid arthritis
- epithelial cancer
- metastasis
- tumorigenesis
- dilated cardiomyopathy
- diabetes mellitus
- goblet cell hyperplasia
- organismal death
- progressive peripheral neuropathy
role in cell
- production in
- polymerization in
- phosphorylation in
- expression in
- proliferation
- differentiation
- autophagy in
- infiltration by
- quantity
- activity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- insoluble fractions
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TFAM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from mitochondrial promoter
- transcription initiation from mitochondrial promoter
- response to hypoxia
- positive regulation of transcription, DNA-dependent
- response to nutrient
- mitochondrial respiratory chain complex assembly
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial matrix
- mitochondrion
- cytosol
- macromolecular complex
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- heat shock protein binding
- RNA binding
- protein binding
- transcription regulatory region sequence-specific DNA binding
- mitochondrial RNA polymerase binding promoter specificity activity
- sequence-specific DNA binding
- mitochondrial RNA polymerase regulatory region DNA binding
- chromatin binding
- transcription coactivator binding