Version 5.4
Homo sapiens Protein: TFB1M
Summary
InnateDB Protein IDBP-98291.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TFB1M
Protein Name transcription factor B1, mitochondrial
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000356134
InnateDB Gene IDBG-98289 (TFB1M)
Protein Structure
UniProt Annotation
Function S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. {ECO:0000269PubMed:11809803, ECO:0000269PubMed:12068295, ECO:0000269PubMed:12897151}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:11809803}.
Disease Associations Note=Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA.
Tissue Specificity Ubiquitously expressed. {ECO:0000269PubMed:12068295}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008649 rRNA methyltransferase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000154 rRNA modification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0031167 rRNA methylation
Cellular Component
GO:0005739 mitochondrion
GO:0042645 mitochondrial nucleoid
Protein Structure and Domains
PDB ID
InterPro IPR001737 Ribosomal RNA adenine methylase transferase
IPR020598 Ribosomal RNA adenine methylase transferase, N-terminal
IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like
PFAM PF00398
PRINTS
PIRSF
SMART SM00650
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WVM0
PhosphoSite PhosphoSite-Q8WVM0
TrEMBL E5KTM5
UniProt Splice Variant
Entrez Gene 51106
UniGene Hs.279908
RefSeq NP_057104
HUGO HGNC:17037
OMIM 607033
CCDS CCDS5248
HPRD 09515
IMGT
EMBL AF151833 AL139101 BC005183 BC017788 CH471051 HQ206306 HQ206307 HQ206308 HQ206309 HQ206310 HQ206311 HQ206312 HQ206313 HQ206314 HQ206315 HQ206316 HQ206317 HQ206318 HQ206319 HQ206320 HQ206321 HQ206322 HQ206323 HQ206324 HQ206325 HQ206326 HQ206327 HQ206328 HQ206329 HQ206330 HQ206331 HQ206332 HQ206333 HQ206334 HQ206335 HQ206336 HQ206337 HQ206338 HQ206339 HQ206340 HQ206341 HQ206342 HQ206343 HQ206344 HQ206345
GenPept AAD34070 AAH05183 AAH17788 ADP92254 ADP92255 ADP92256 ADP92257 ADP92258 ADP92259 ADP92260 ADP92261 ADP92262 ADP92263 ADP92264 ADP92265 ADP92266 ADP92267 ADP92268 ADP92269 ADP92270 ADP92271 ADP92272 ADP92273 ADP92274 ADP92275 ADP92276 ADP92277 ADP92278 ADP92279 ADP92280 ADP92281 ADP92282 ADP92283 ADP92284 ADP92285 ADP92286 ADP92287 ADP92288 ADP92289 ADP92290 ADP92291 ADP92292 ADP92293 CAI20506 EAW47690

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca