• Gene id: 7019

Gene Summary

• Gene Symbol: TFAM   Gene   UCSC   Ensembl
• Aliases: MTDPS15, MTTF1, MTTFA, TCF6, TCF6L1, TCF6L2, TCF6L3
• Gene name: transcription factor A, mitochondrial
• Alternate names: transcription factor A, mitochondrial, 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-,
• Gene location: 10q21.1 (58385142: 58399229)     Exons: 8     NC_000010.11
• Gene summary(Entrez): 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 P
• OMIM: 300349

SNPs

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

Protein Summary

• Protein general information: Q00059  
  • Name: Transcription factor A, mitochondrial (mtTFA) (Mitochondrial transcription factor 1) (MtTF1) (Transcription factor 6) (TCF 6) (Transcription factor 6 like 2)
  • Length: 246  
  • Mass: 29097
• Sequence:

  MAFLRSMWGVLSALGRSGAELCTGCGSRLRSPFSFVYLPRWFSSVLASCPKKPVSSYLRFSKEQLPIFKAQNPDA
  KTTELIRRIAQRWRELPDSKKKIYQDAYRAEWQVYKEEISRFKEQLTPSQIMSLEKEIMDKHLKRKAMTKKKELT
  LLGKPKRPRSAYNVYVAERFQEAKGDSPQEKLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSWEEQMIEV
  GRKDLLRRTIKKQRKYGAEEC

• Structural information:
  • Interpro: IPR009071  IPR036910  
  • Prosite: PS50118
  • PDB: 3FGH 3TMM 3TQ6 4NNU 4NOD 6ERP 6ERQ 6HB4 6HC3
  • PDBsum: 3FGH 3TMM 3TQ6 4NNU 4NOD 6ERP 6ERQ 6HB4 6HC3
  • STRING: ENSP00000420588
• Other Databases: GeneCards:  TFAM  Malacards:  TFAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001018	mitochondrial promoter sequence-specific DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0006391	transcription initiation from mitochondrial promoter	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0008301	DNA binding, bending	IDA	molecular function
GO:0006390	mitochondrial transcription	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006391	transcription initiation from mitochondrial promoter	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0031072	heat shock protein binding	IEA	molecular function
GO:0001018	mitochondrial promoter sequence-specific DNA binding	IEA	molecular function
GO:0006390	mitochondrial transcription	IEA	biological process
GO:0033108	mitochondrial respiratory chain complex assembly	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006390	mitochondrial transcription	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04371	Apelin signaling pathway

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Mitochondrial DNA depletion syndrome	KEGG:H00469
Alzheimer's disease	PMID:17537576
Alzheimer's disease	PMID:21799244
Huntington's disease	PMID:21595933
Parkinson's disease	PMID:19925850
Amyotrophic lateral sclerosis	PMID:22354563
obesity	PMID:21862610
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray