Identity
HGNC
LOCATION
6q25.3
LOCUSID
ALIAS
CGI-75,CGI75,mtTFB,mtTFB1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51106
MIM: 607033
HGNC: 17037
Ensembl: ENSG00000029639
Variants:
dbSNP: 51106
ClinVar: 51106
TCGA: ENSG00000029639
COSMIC: TFB1M
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000029639 | ENST00000367166 | Q8WVM0 |
| ENSG00000029639 | ENST00000367166 | E5KTM5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31251801 | 2019 | Structural insights into dimethylation of 12S rRNA by TFB1M: indispensable role in translation of mitochondrial genes and mitochondrial function. | 24 |
| 31251801 | 2019 | Structural insights into dimethylation of 12S rRNA by TFB1M: indispensable role in translation of mitochondrial genes and mitochondrial function. | 24 |
| 24916378 | 2014 | Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes. | 30 |
| 24916378 | 2014 | Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes. | 30 |
| 21195351 | 2011 | A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes. | 48 |
| 21195351 | 2011 | A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes. | 48 |
| 19681768 | 2010 | Training response of mitochondrial transcription factors in human skeletal muscle. | 14 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19681768 | 2010 | Training response of mitochondrial transcription factors in human skeletal muscle. | 14 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 18980857 | 2009 | Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. | 2 |
| 18980857 | 2009 | Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. | 2 |
| 19417006 | 2009 | Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness. | 45 |
| 18980857 | 2009 | Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. | 2 |
| 18980857 | 2009 | Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. | 2 |
Citation
Dessen P
TFB1M (transcription factor B1, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74652/tfb1m-(transcription-factor-b1-mitochondrial)
