TFB1M (transcription factor B1, mitochondrial)

2014-11-01  

Identity

HGNC
TFB1M
LOCATION
6q25.3
LOCUSID
51106
ALIAS
CGI-75,CGI75,mtTFB,mtTFB1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51106
MIM: 607033
HGNC: 17037
Ensembl: ENSG00000029639

Variants:

dbSNP: 51106
ClinVar: 51106
TCGA: ENSG00000029639
COSMIC: TFB1M

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000029639ENST00000367166Q8WVM0
ENSG00000029639ENST00000367166E5KTM5

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766
rRNA modification in the mitochondrionREACTOMER-HSA-6793080

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
120682952002Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.188
124967582003Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop.69
175578122007Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression.56
128971512003Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity.53
194170062009Elucidation 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.35
151103182004Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.28
211953512011A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
249163782014Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.14
196817682010Training response of mitochondrial transcription factors in human skeletal muscle.11

Citation

Dessen P

TFB1M (transcription factor B1, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74652/tfb1m