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Q8WVM0

- TFB1M_HUMAN

UniProt

Q8WVM0 - TFB1M_HUMAN

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Protein

Dimethyladenosine transferase 1, mitochondrial

Gene

TFB1M

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.3 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei36 – 361S-adenosyl-L-methionine; via carbonyl oxygenBy similarity
Binding sitei38 – 381S-adenosyl-L-methionine; via amide nitrogenBy similarity
Binding sitei63 – 631S-adenosyl-L-methionine; via carbonyl oxygenBy similarity
Binding sitei85 – 851S-adenosyl-L-methionineBy similarity
Binding sitei111 – 1111S-adenosyl-L-methionineBy similarity
Binding sitei141 – 1411S-adenosyl-L-methionineBy similarity

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. poly(A) RNA binding Source: UniProtKB
  3. rRNA (adenine-N6,N6-)-dimethyltransferase activity Source: InterPro

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Biological processi

rRNA processing, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, RNA-binding, S-adenosyl-L-methionine

Enzyme and pathway databases

ReactomeiREACT_200608. Transcriptional activation of mitochondrial biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Dimethyladenosine transferase 1, mitochondrial (EC:2.1.1.-)
Alternative name(s):
Mitochondrial 12S rRNA dimethylase 1
Mitochondrial transcription factor B1
Short name:
h-mtTFB
Short name:
h-mtTFB1
Short name:
hTFB1M
Short name:
mtTFB1
S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1
Gene namesi
Name:TFB1M
ORF Names:CGI-75
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:17037. TFB1M.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. mitochondrial nucleoid Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi65 – 651G → A: Abolishes methyltransferase activity, DNA-binding and SAM-binding. Does not abolish transcription activator function. 2 Publications
Mutagenesisi141 – 1411N → A: Does not affect SAM-binding, DNA-binding nor transcription activator function. 1 Publication
Mutagenesisi220 – 2201K → A: Abolishes methyltransferase activity. Does not affect SAM-binding, DNA-binding nor transcription activator function. 2 Publications

Organism-specific databases

Orphaneti90641. Mitochondrial non-syndromic sensorineural deafness.
PharmGKBiPA38198.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2727MitochondrionSequence AnalysisAdd
BLAST
Chaini28 – 346319Dimethyladenosine transferase 1, mitochondrialPRO_0000273171Add
BLAST

Proteomic databases

MaxQBiQ8WVM0.
PaxDbiQ8WVM0.
PRIDEiQ8WVM0.

PTM databases

PhosphoSiteiQ8WVM0.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Inductioni

By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.1 Publication

Gene expression databases

BgeeiQ8WVM0.
CleanExiHS_TFB1M.
ExpressionAtlasiQ8WVM0. baseline and differential.
GenevestigatoriQ8WVM0.

Organism-specific databases

HPAiHPA029428.

Interactioni

Subunit structurei

Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TFAMQ000592EBI-2615570,EBI-1049924

Protein-protein interaction databases

BioGridi119295. 5 interactions.
IntActiQ8WVM0. 3 interactions.
MINTiMINT-8052614.
STRINGi9606.ENSP00000356134.

Structurei

3D structure databases

ProteinModelPortaliQ8WVM0.
SMRiQ8WVM0. Positions 36-306.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni35 – 384S-adenosyl-L-methionine bindingBy similarity

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0030.
GeneTreeiENSGT00530000063389.
HOGENOMiHOG000227961.
HOVERGENiHBG082484.
InParanoidiQ8WVM0.
KOiK15266.
OMAiQKYCRRG.
OrthoDBiEOG7DJSMJ.
PhylomeDBiQ8WVM0.
TreeFamiTF300798.

Family and domain databases

Gene3Di1.10.8.100. 1 hit.
3.40.50.150. 1 hit.
HAMAPiMF_00607. 16SrRNA_methyltr_A.
InterProiIPR023165. rRNA_Ade_diMease-like.
IPR020596. rRNA_Ade_Mease_Trfase_CS.
IPR001737. rRNA_Ade_methylase_transferase.
IPR020598. rRNA_Ade_methylase_Trfase_N.
IPR011530. rRNA_adenine_dimethylase.
IPR029063. SAM-dependent_MTases-like.
[Graphical view]
PANTHERiPTHR11727. PTHR11727. 1 hit.
PfamiPF00398. RrnaAD. 1 hit.
[Graphical view]
SMARTiSM00650. rADc. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
PROSITEiPS01131. RRNA_A_DIMETH. 1 hit.
PS51689. SAM_RNA_A_N6_MT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8WVM0-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAASGKLSTC RLPPLPTIRE IIKLLRLQAA KQLSQNFLLD LRLTDKIVRK
60 70 80 90 100
AGNLTNAYVY EVGPGPGGIT RSILNADVAE LLVVEKDTRF IPGLQMLSDA
110 120 130 140 150
APGKLRIVHG DVLTFKVEKA FSESLKRPWE DDPPNVHIIG NLPFSVSTPL
160 170 180 190 200
IIKWLENISC RDGPFVYGRT QMTLTFQKEV AERLAANTGS KQRSRLSVMA
210 220 230 240 250
QYLCNVRHIF TIPGQAFVPK PEVDVGVVHF TPLIQPKIEQ PFKLVEKVVQ
260 270 280 290 300
NVFQFRRKYC HRGLRMLFPE AQRLESTGRL LELADIDPTL RPRQLSISHF
310 320 330 340
KSLCDVYRKM CDEDPQLFAY NFREELKRRK SKNEEKEEDD AENYRL
Length:346
Mass (Da):39,543
Last modified:March 1, 2002 - v1
Checksum:i4C34F4FD72B01286
GO

Sequence cautioni

The sequence AAH05183.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 322KQ → NE in AAD34070. (PubMed:10810093)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201A → P.1 Publication
VAR_071246
Natural varianti211 – 2111T → A.1 Publication
VAR_071247
Natural varianti256 – 2561R → Q.1 Publication
Corresponds to variant rs73579353 [ dbSNP | Ensembl ].
VAR_071248

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF151833 mRNA. Translation: AAD34070.1.
AL139101 Genomic DNA. Translation: CAI20506.1.
BC005183 mRNA. Translation: AAH05183.1. Sequence problems.
BC017788 mRNA. Translation: AAH17788.1.
CCDSiCCDS5248.1.
RefSeqiNP_057104.2. NM_016020.3.
XP_005267062.1. XM_005267005.1.
UniGeneiHs.279908.
Hs.655297.

Genome annotation databases

EnsembliENST00000367166; ENSP00000356134; ENSG00000029639.
GeneIDi51106.
KEGGihsa:51106.
UCSCiuc003qqj.4. human.

Polymorphism databases

DMDMi74751555.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF151833 mRNA. Translation: AAD34070.1 .
AL139101 Genomic DNA. Translation: CAI20506.1 .
BC005183 mRNA. Translation: AAH05183.1 . Sequence problems.
BC017788 mRNA. Translation: AAH17788.1 .
CCDSi CCDS5248.1.
RefSeqi NP_057104.2. NM_016020.3.
XP_005267062.1. XM_005267005.1.
UniGenei Hs.279908.
Hs.655297.

3D structure databases

ProteinModelPortali Q8WVM0.
SMRi Q8WVM0. Positions 36-306.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119295. 5 interactions.
IntActi Q8WVM0. 3 interactions.
MINTi MINT-8052614.
STRINGi 9606.ENSP00000356134.

PTM databases

PhosphoSitei Q8WVM0.

Polymorphism databases

DMDMi 74751555.

Proteomic databases

MaxQBi Q8WVM0.
PaxDbi Q8WVM0.
PRIDEi Q8WVM0.

Protocols and materials databases

DNASUi 51106.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367166 ; ENSP00000356134 ; ENSG00000029639 .
GeneIDi 51106.
KEGGi hsa:51106.
UCSCi uc003qqj.4. human.

Organism-specific databases

CTDi 51106.
GeneCardsi GC06M155578.
HGNCi HGNC:17037. TFB1M.
HPAi HPA029428.
MIMi 607033. gene.
neXtProti NX_Q8WVM0.
Orphaneti 90641. Mitochondrial non-syndromic sensorineural deafness.
PharmGKBi PA38198.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0030.
GeneTreei ENSGT00530000063389.
HOGENOMi HOG000227961.
HOVERGENi HBG082484.
InParanoidi Q8WVM0.
KOi K15266.
OMAi QKYCRRG.
OrthoDBi EOG7DJSMJ.
PhylomeDBi Q8WVM0.
TreeFami TF300798.

Enzyme and pathway databases

Reactomei REACT_200608. Transcriptional activation of mitochondrial biogenesis.

Miscellaneous databases

ChiTaRSi TFB1M. human.
GeneWikii TFB1M.
GenomeRNAii 51106.
NextBioi 53841.
PROi Q8WVM0.
SOURCEi Search...

Gene expression databases

Bgeei Q8WVM0.
CleanExi HS_TFB1M.
ExpressionAtlasi Q8WVM0. baseline and differential.
Genevestigatori Q8WVM0.

Family and domain databases

Gene3Di 1.10.8.100. 1 hit.
3.40.50.150. 1 hit.
HAMAPi MF_00607. 16SrRNA_methyltr_A.
InterProi IPR023165. rRNA_Ade_diMease-like.
IPR020596. rRNA_Ade_Mease_Trfase_CS.
IPR001737. rRNA_Ade_methylase_transferase.
IPR020598. rRNA_Ade_methylase_Trfase_N.
IPR011530. rRNA_adenine_dimethylase.
IPR029063. SAM-dependent_MTases-like.
[Graphical view ]
PANTHERi PTHR11727. PTHR11727. 1 hit.
Pfami PF00398. RrnaAD. 1 hit.
[Graphical view ]
SMARTi SM00650. rADc. 1 hit.
[Graphical view ]
SUPFAMi SSF53335. SSF53335. 1 hit.
PROSITEi PS01131. RRNA_A_DIMETH. 1 hit.
PS51689. SAM_RNA_A_N6_MT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney and Lung.
  4. "A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine."
    McCulloch V., Seidel-Rogol B.L., Shadel G.S.
    Mol. Cell. Biol. 22:1116-1125(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, SAM-BINDING.
  5. "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA."
    Falkenberg M., Gaspari M., Rantanen A., Trifunovic A., Larsson N.-G., Gustafsson C.M.
    Nat. Genet. 31:289-294(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH POLRMT.
  6. "Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity."
    McCulloch V., Shadel G.S.
    Mol. Cell. Biol. 23:5816-5824(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH TFAM, MUTAGENESIS OF GLY-65; ASN-141 AND LYS-220.
  7. "Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop."
    Seidel-Rogol B.L., McCulloch V., Shadel G.S.
    Nat. Genet. 33:23-24(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: ENZYME ACTIVITY, MUTAGENESIS OF GLY-65 AND LYS-220.
  8. "Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation."
    Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., Fischel-Ghodsian N.
    Mol. Genet. Metab. 82:27-32(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN AMINOGLYCOSIDE-INDUCED DEAFNESS.
  9. "Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators."
    Gleyzer N., Vercauteren K., Scarpulla R.C.
    Mol. Cell. Biol. 25:1354-1366(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy."
    Alonso-Montes C., Castro M.G., Reguero J.R., Perrot A., Ozcelik C., Geier C., Posch M.G., Moris C., Alvarez V., Ruiz-Ortega M., Coto E.
    Dis. Markers 25:131-139(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PRO-120; ALA-211 AND GLN-256.

Entry informationi

Entry nameiTFB1M_HUMAN
AccessioniPrimary (citable) accession number: Q8WVM0
Secondary accession number(s): Q05DR0, Q9Y384
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: March 1, 2002
Last modified: October 29, 2014
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3