TFB1M (transcription factor B1, mitochondrial)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51106
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor B1, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFB1M
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-75, CGI75, mtTFB, mtTFB1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expressi
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
miRTarBase ID miRNA Experiments Reference
MIRT726339 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT726338 hsa-miR-15b-5p HITS-CLIP 22473208
MIRT726337 hsa-miR-16-5p HITS-CLIP 22473208
MIRT726335 hsa-miR-195-5p HITS-CLIP 22473208
MIRT726336 hsa-miR-19a-3p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0000154 Process RRNA modification TAS
GO:0000179 Function RRNA (adenine-N6,N6-)-dimethyltransferase activity EXP 12496758, 23303773
GO:0000179 Function RRNA (adenine-N6,N6-)-dimethyltransferase activity IBA 21873635
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607033 17037 ENSG00000029639
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WVM0
Protein name Dimethyladenosine transferase 1, mitochondrial (EC 2.1.1.-) (Mitochondrial 12S rRNA dimethylase 1) (Mitochondrial transcription factor B1) (h-mtTFB) (h-mtTFB1) (hTFB1M) (mtTFB1) (S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1)
Protein function Mitochondrial methyltransferase which uses S-adenosyl methionine to dimethylate two highly conserved adjacent adenosine residues (A1583 and A1584) within the loop of helix 45 at the 3-prime end of 12S rRNA, thereby regulating the assembly or sta
PDB 6AAX , 6AJK , 8CSP , 8CSQ , 8CSR , 8CSU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00398 RrnaAD 26 → 303 Ribosomal RNA adenine dimethylase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12068295}.
Sequence
Sequence length 346
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Transcriptional activation of mitochondrial biogenesis
rRNA modification in the mitochondrion
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Mitochondrial non-syndromic sensorineural deafness Mitochondrial non-syndromic sensorineural deafness rs199474818, rs199474820, rs199474821, rs387906733, rs724159989, rs111033319
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Male Associate 30850364
Deafness Associate 25305075
Hearing Loss Associate 25305075
Noninsulin dependent diabetes mellitus with deafness Associate 19417006
Nonsyndromic sensorineural hearing loss Associate 25305075