Details for: TFB1M

Gene ID: 51106

Symbol: TFB1M

Ensembl ID: ENSG00000029639

Description: transcription factor B1, mitochondrial

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 141.6308
    Cell Significance Index: -22.0300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 82.9117
    Cell Significance Index: -21.0300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 53.7204
    Cell Significance Index: -22.1300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 49.8699
    Cell Significance Index: -20.2600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 35.3193
    Cell Significance Index: -23.7000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 21.4822
    Cell Significance Index: -20.5100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.7436
    Cell Significance Index: -23.1100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.9399
    Cell Significance Index: -21.2700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 6.9514
    Cell Significance Index: 114.5500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.1827
    Cell Significance Index: -18.9900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.9477
    Cell Significance Index: -23.4700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.6697
    Cell Significance Index: -10.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8386
    Cell Significance Index: 364.8800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.3083
    Cell Significance Index: 35.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0013
    Cell Significance Index: 904.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9946
    Cell Significance Index: 199.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8723
    Cell Significance Index: 66.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8642
    Cell Significance Index: 51.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7903
    Cell Significance Index: 44.3500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7520
    Cell Significance Index: 9.3300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6997
    Cell Significance Index: 113.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5752
    Cell Significance Index: 206.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5568
    Cell Significance Index: 15.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3763
    Cell Significance Index: 26.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3627
    Cell Significance Index: 42.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3592
    Cell Significance Index: 41.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3542
    Cell Significance Index: 18.4000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.3523
    Cell Significance Index: 4.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2737
    Cell Significance Index: 49.3400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2604
    Cell Significance Index: 16.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2459
    Cell Significance Index: 9.3100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2421
    Cell Significance Index: 10.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2409
    Cell Significance Index: 10.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2336
    Cell Significance Index: 5.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2301
    Cell Significance Index: 125.6600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1954
    Cell Significance Index: 24.0300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1798
    Cell Significance Index: 3.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1771
    Cell Significance Index: 17.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1640
    Cell Significance Index: 11.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1539
    Cell Significance Index: 9.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1527
    Cell Significance Index: 4.4000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1475
    Cell Significance Index: 65.2300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1279
    Cell Significance Index: 3.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1188
    Cell Significance Index: 82.1900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1048
    Cell Significance Index: 1.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0948
    Cell Significance Index: 43.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0819
    Cell Significance Index: 126.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0751
    Cell Significance Index: 102.0900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0557
    Cell Significance Index: 102.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0545
    Cell Significance Index: 7.4800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0540
    Cell Significance Index: 34.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0528
    Cell Significance Index: 99.3700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0484
    Cell Significance Index: 1.7000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0373
    Cell Significance Index: 0.5500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0352
    Cell Significance Index: 0.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0352
    Cell Significance Index: 1.6400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0231
    Cell Significance Index: 4.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0181
    Cell Significance Index: 1.1700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0143
    Cell Significance Index: 1.8300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0061
    Cell Significance Index: 0.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0088
    Cell Significance Index: -0.4600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0097
    Cell Significance Index: -0.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0132
    Cell Significance Index: -9.9600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0144
    Cell Significance Index: -10.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0146
    Cell Significance Index: -0.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0220
    Cell Significance Index: -3.2000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0253
    Cell Significance Index: -18.7300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0276
    Cell Significance Index: -4.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0302
    Cell Significance Index: -1.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0399
    Cell Significance Index: -22.4900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0427
    Cell Significance Index: -26.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0447
    Cell Significance Index: -3.1600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0583
    Cell Significance Index: -5.9600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0707
    Cell Significance Index: -20.3300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0747
    Cell Significance Index: -1.9200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0946
    Cell Significance Index: -2.7000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0966
    Cell Significance Index: -12.4800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1211
    Cell Significance Index: -25.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1444
    Cell Significance Index: -10.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1601
    Cell Significance Index: -18.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1658
    Cell Significance Index: -17.2600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1776
    Cell Significance Index: -4.2600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1828
    Cell Significance Index: -4.4600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1836
    Cell Significance Index: -2.2900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1873
    Cell Significance Index: -3.1600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1892
    Cell Significance Index: -4.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1951
    Cell Significance Index: -6.7800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2036
    Cell Significance Index: -4.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2249
    Cell Significance Index: -6.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2333
    Cell Significance Index: -5.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2489
    Cell Significance Index: -15.2600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2552
    Cell Significance Index: -20.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2890
    Cell Significance Index: -5.6400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3264
    Cell Significance Index: -4.1200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3279
    Cell Significance Index: -4.8400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3439
    Cell Significance Index: -7.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3447
    Cell Significance Index: -11.0400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3603
    Cell Significance Index: -5.4300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3724
    Cell Significance Index: -11.8600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3820
    Cell Significance Index: -7.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Mitochondrial localization**: TFB1M is specifically localized to the mitochondrial matrix, where it plays a critical role in regulating mitochondrial transcription. 2. **RNA binding and modification**: TFB1M exhibits RNA binding and methylation activities, which are essential for the regulation of mitochondrial gene expression. 3. **Transcriptional activation**: TFB1M acts as a transcriptional activator of mitochondrial biogenesis, promoting the expression of genes involved in energy metabolism and cellular homeostasis. 4. **Cell-type specific expression**: TFB1M is expressed in a variety of cell types, including hematopoietic cells, embryonic stem cells, and epithelial cells, highlighting its importance in multiple physiological processes. **Pathways and Functions:** 1. **Mitochondrial biogenesis**: TFB1M regulates the transcription of mitochondrial genes, which are essential for the synthesis of mitochondrial proteins and the maintenance of mitochondrial function. 2. **Energy metabolism**: TFB1M promotes the expression of genes involved in energy metabolism, including those involved in the citric acid cycle and oxidative phosphorylation. 3. **Cellular homeostasis**: TFB1M helps maintain cellular homeostasis by regulating the expression of genes involved in cell growth, differentiation, and survival. 4. **Epigenetic regulation**: TFB1M exhibits RNA methylation and demethylation activities, which play a crucial role in regulating epigenetic marks and influencing gene expression. **Clinical Significance:** 1. **Mitochondrial disorders**: Mutations in TFB1M have been associated with mitochondrial disorders, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). 2. **Cancer**: TFB1M has been implicated in cancer, including leukemia and lymphoma, where it plays a role in regulating mitochondrial biogenesis and energy metabolism. 3. **Neurological disorders**: TFB1M has been linked to neurological disorders, including Alzheimer's disease and Parkinson's disease, where it contributes to the regulation of energy metabolism and cellular homeostasis. 4. **Immunological disorders**: TFB1M has been associated with immunological disorders, including autoimmune diseases and immunodeficiency syndromes, where it plays a role in regulating mitochondrial biogenesis and energy metabolism. In conclusion, TFB1M is a critical gene that plays a pivotal role in regulating mitochondrial transcription and biogenesis. Its dysregulation has been implicated in various diseases, including mitochondrial disorders, cancer, neurological disorders, and immunological disorders. Further research is necessary to fully elucidate the mechanisms by which TFB1M regulates mitochondrial function and to explore its therapeutic potential.

Genular Protein ID: 1770684840

Symbol: TFB1M_HUMAN

Name: Dimethyladenosine transferase 1, mitochondrial

UniProtKB Accession Codes:

Q8WVM0 Q05DR0 Q9Y384

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 12 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EMDB 4 Ensembl 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 3 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11809803

Title: A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine.

PubMed ID: 11809803

DOI: 10.1128/mcb.22.4.1116-1125.2002

PubMed ID: 12068295

Title: Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.

PubMed ID: 12068295

DOI: 10.1038/ng909

PubMed ID: 12897151

Title: Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity.

PubMed ID: 12897151

DOI: 10.1128/mcb.23.16.5816-5824.2003

PubMed ID: 12496758

Title: Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop.

PubMed ID: 12496758

DOI: 10.1038/ng1064

PubMed ID: 15110318

Title: Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

PubMed ID: 15110318

DOI: 10.1016/j.ymgme.2004.01.020

PubMed ID: 15684387

Title: Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators.

PubMed ID: 15684387

DOI: 10.1128/mcb.25.4.1354-1366.2005

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 25305075

Title: Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.

PubMed ID: 25305075

DOI: 10.1093/hmg/ddu518

PubMed ID: 19096125

Title: Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.

PubMed ID: 19096125

DOI: 10.1155/2008/575323

PubMed ID: 31251801

Title: Structural insights into dimethylation of 12S rRNA by TFB1M: indispensable role in translation of mitochondrial genes and mitochondrial function.

PubMed ID: 31251801

DOI: 10.1093/nar/gkz505

PubMed ID: 36482135

Title: Principles of mitoribosomal small subunit assembly in eukaryotes.

PubMed ID: 36482135

DOI: 10.1038/s41586-022-05621-0

Sequence Information:

  • Length: 346
  • Mass: 39543
  • Checksum: 4C34F4FD72B01286
  • Sequence:
    • MAASGKLSTC RLPPLPTIRE IIKLLRLQAA KQLSQNFLLD LRLTDKIVRK AGNLTNAYVY 
EVGPGPGGIT RSILNADVAE LLVVEKDTRF IPGLQMLSDA APGKLRIVHG DVLTFKVEKA 
FSESLKRPWE DDPPNVHIIG NLPFSVSTPL IIKWLENISC RDGPFVYGRT QMTLTFQKEV 
AERLAANTGS KQRSRLSVMA QYLCNVRHIF TIPGQAFVPK PEVDVGVVHF TPLIQPKIEQ 
PFKLVEKVVQ NVFQFRRKYC HRGLRMLFPE AQRLESTGRL LELADIDPTL RPRQLSISHF 
KSLCDVYRKM CDEDPQLFAY NFREELKRRK SKNEEKEEDD AENYRL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.