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TFB1M transcription factor B1, mitochondrial [ Homo sapiens (human) ]

Gene ID: 51106, updated on 1-Jun-2020

Summary

Official Symbol
TFB1Mprovided by HGNC
Official Full Name
transcription factor B1, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:17037
See related
Ensembl:ENSG00000029639 MIM:607033
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGI75; mtTFB; CGI-75; mtTFB1
Summary
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 expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in testis (RPKM 2.2), adrenal (RPKM 1.8) and 25 other tissues See more
Orthologs

Genomic context

See TFB1M in Genome Data Viewer
Location:
6q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (155229871..155314497, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (155574495..155635631, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 1273c Neighboring gene lysophosphatidylcholine acyltransferase 3 pseudogene Neighboring gene TIAM Rac1 associated GEF 2 Neighboring gene claudin 20 Neighboring gene NADPH oxidase 3 Neighboring gene uncharacterized LOC105378068

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA (adenine-N6,N6-)-dimethyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
rRNA (adenine-N6,N6-)-dimethyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrion organization TAS
Traceable Author Statement
more info
 
rRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dimethyladenosine transferase 1, mitochondrial
Names
S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1
h-mtTFB1
hTFB1M
homolog of yeast mitochondrial transcription factor B
mitochondrial 12S rRNA dimethylase 1
mitochondrial dimethyladenosine transferase 1
NP_001337430.1
NP_001337431.1
NP_057104.2
XP_011534172.1
XP_011534173.1
XP_011534174.1
XP_011534175.1
XP_016866406.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027528.2 RefSeqGene

    Range
    5014..63364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350501.2NP_001337430.1  dimethyladenosine transferase 1, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL139101
    Conserved Domains (1) summary
    PRK00274
    Location:15258
    ksgA; 16S ribosomal RNA methyltransferase KsgA/Dim1 family protein; Reviewed
  2. NM_001350502.2NP_001337431.1  dimethyladenosine transferase 1, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL139101
    Conserved Domains (1) summary
    cl17173
    Location:6215
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. NM_016020.4NP_057104.2  dimethyladenosine transferase 1, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_057104.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL139101, BC017788
    Consensus CDS
    CCDS5248.1
    UniProtKB/Swiss-Prot
    Q8WVM0
    UniProtKB/TrEMBL
    E5KTM5
    Related
    ENSP00000356134.4, ENST00000367166.5
    Conserved Domains (1) summary
    PRK00274
    Location:15310
    ksgA; 16S ribosomal RNA methyltransferase KsgA/Dim1 family protein; Reviewed

RNA

  1. NR_146725.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL139101, AL355343, AL596202

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    155229871..155314497 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535871.2XP_011534173.1  dimethyladenosine transferase 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011534173.1

    Conserved Domains (1) summary
    cl17173
    Location:15223
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. XM_011535872.2XP_011534174.1  dimethyladenosine transferase 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011534174.1

    Conserved Domains (1) summary
    cl17173
    Location:15223
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. XM_011535870.1XP_011534172.1  dimethyladenosine transferase 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011534172.1

    Conserved Domains (1) summary
    cl17173
    Location:15223
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  4. XM_017010917.1XP_016866406.1  dimethyladenosine transferase 1, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl17173
    Location:6215
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  5. XM_011535873.2XP_011534175.1  dimethyladenosine transferase 1, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_011534175.1

    Conserved Domains (1) summary
    cl17173
    Location:6215
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RNA

  1. XR_001743453.1 RNA Sequence

  2. XR_942460.2 RNA Sequence

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