TFAM

Protein identityUniProt · HPA

UniProt accession

Q00059

Gene

TFAM

Ensembl

ENSG00000108064

Chromosome

10

Canonical length

246 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

246 residues, UniProt reviewed canonical sequence.

>Q00059|TFAM
     1  MAFLRSMWGV LSALGRSGAE LCTGCGSRLR SPFSFVYLPR WFSSVLASCP KKPVSSYLRF
    61  SKEQLPIFKA QNPDAKTTEL IRRIAQRWRE LPDSKKKIYQ DAYRAEWQVY KEEISRFKEQ
   121  LTPSQIMSLE KEIMDKHLKR KAMTKKKELT LLGKPKRPRS AYNVYVAERF QEAKGDSPQE
   181  KLKTVKENWK NLSDSEKELY IQHAKEDETR YHNEMKSWEE QMIEVGRKDL LRRTIKKQRK
   241  YGAEEC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TFAM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

36 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TFAM.

Disease | AllUniProt

Conditions TFAM is implicated in, by any mechanism.

• Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) MIM:617156

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 105 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.61

gnomAD pLI

0.17

gnomAD missense Z

1.11

DepMap mean gene effect

-0.59

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex assembly
• mitochondrial transcription
• response to hypoxia
• response to nutrient
• transcription initiation at mitochondrial promoter

Molecular functions

• chromatin binding
• heat shock protein binding
• mitochondrial promoter sequence-specific DNA binding
• mitochondrial transcription factor activity
• RNA binding
• sequence-specific DNA binding
• transcription coactivator binding

Cellular components

• cytosol
• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• High mobility group box domain superfamily
• High Mobility Group Box (HMGB)
• HMG (high mobility group) box
• HMG-box domain

KeywordsUniProt

• Activator
• DNA-binding
• Mitochondrion
• Mitochondrion nucleoid
• Phosphoprotein
• Primary mitochondrial disease
• Repeat
• Transcription
• Transcription regulation
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of TFAM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLPX
• TFB1M
• TFB2M
• MGST3
• PPM1G