TFAM
entrez
7019
canonical
uniprot
Q00059
canonical
ensembl
ENSG00000108064
resolver
ensp
ENSP00000363002
resolver
ensp
ENSP00000420588
resolver
genesymbol
TFAM
resolver
genesymbol_syn
TCF6
resolver
genesymbol_syn
TCF6L2
resolver
hgnc
HGNC:11741
resolver
uniprot
A8MRB2
resolver
uniprot
A9QXC6
resolver
uniprot
B5BU05
resolver
uniprot
E5KSU5
resolver
uniprot
Q5U0C6
resolver
uniprot_entry
E5KSU5_HUMAN
resolver
uniprot_entry
TFAM_HUMAN
resolver
uniprot_sec
A8MRB2
resolver
uniprot_sec
A9QXC6
resolver
uniprot_sec
B5BU05
resolver
uniprot_sec
Q5U0C6
resolver
amino_acid_sequence
MAFLRSMWGVLSALGRSGAELCTGCGSRLRSPFSFVYLPRWFSSVLASCPKKPVSSYLRFSKEQLPIFKAQNPDAKTTELIRRIAQRWRELPDSKKKIYQDAYRAEWQVYKEEISRFKEQLTPSQIMSLEKEIMDKHLKRKAMTKKKELTLLGKPKRPRSAYNVYVAERFQEAKGDSPQEKLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSWEEQMIEVGRKDLLRRTIKKQRKYGAEEC
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) [MIM:617156]: An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269|PubMed:27448789}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:20410300). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase (PubMed:22037172). Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites (PubMed:22037172). Is able to unwind DNA (PubMed:22037172). Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes (PubMed:1737790). Required for maintenance of normal levels of mitochondrial DNA (PubMed:19304746, PubMed:22841477). May play a role in organizing and compacting mitochondrial DNA (PubMed:22037171). {ECO:0000269|PubMed:1737790, ECO:0000269|PubMed:19304746, ECO:0000269|PubMed:20410300, ECO:0000269|PubMed:22037171, ECO:0000269|PubMed:22037172, ECO:0000269|PubMed:22841477, ECO:0000269|PubMed:29149603, ECO:0000269|PubMed:29445193, ECO:0000269|PubMed:32183942}.
uniprot
proteins
mass_dalton
29097
uniprot
proteins
mutagenesis
MUTAGEN 77; /note="T->A: Moderate reduction in DNA bending."; /evidence="ECO:0000269|PubMed:22037171"; MUTAGEN 162; /note="Y->A: Moderate reduction in DNA bending."; /evidence="ECO:0000269|PubMed:22037171
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by PKA within the HMG box 1 impairs DNA binding and promotes degradation by the AAA+ Lon protease. {ECO:0000269|PubMed:23201127}.
uniprot
proteins
pubmed
12897151
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1610904
uniprot
proteins
pubmed
1737790
uniprot
proteins
pubmed
18063578
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
19096125
uniprot
proteins
pubmed
19304746
uniprot
proteins
pubmed
2035027
uniprot
proteins
pubmed
20410300
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22037171
uniprot
proteins
pubmed
22037172
uniprot
proteins
pubmed
22841477
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23201127
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27448789
uniprot
proteins
pubmed
29149603
uniprot
proteins
pubmed
29445193
uniprot
proteins
pubmed
32183942
uniprot
proteins
sequence_length
246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:1737790, ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:22841477, ECO:0000269|PubMed:29445193}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18063578}.
uniprot
proteins