TFB1M

Protein identityUniProt · HPA

UniProt accession

Q8WVM0

Gene

TFB1M

Ensembl

ENSG00000029639

Chromosome

6

Canonical length

346 aa

Protein class

Disease related genes, Predicted intracellular proteins

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

346 residues, UniProt reviewed canonical sequence.

>Q8WVM0|TFB1M
     1  MAASGKLSTC RLPPLPTIRE IIKLLRLQAA KQLSQNFLLD LRLTDKIVRK AGNLTNAYVY
    61  EVGPGPGGIT RSILNADVAE LLVVEKDTRF IPGLQMLSDA APGKLRIVHG DVLTFKVEKA
   121  FSESLKRPWE DDPPNVHIIG NLPFSVSTPL IIKWLENISC RDGPFVYGRT QMTLTFQKEV
   181  AERLAANTGS KQRSRLSVMA QYLCNVRHIF TIPGQAFVPK PEVDVGVVHF TPLIQPKIEQ
   241  PFKLVEKVVQ NVFQFRRKYC HRGLRMLFPE AQRLESTGRL LELADIDPTL RPRQLSISHF
   301  KSLCDVYRKM CDEDPQLFAY NFREELKRRK SKNEEKEEDD AENYRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TFB1M can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

9.4 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.4

gnomAD pLI

0

gnomAD missense Z

0.15

DepMap mean gene effect

-0.26

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial small ribosomal subunit assembly
• rRNA methylation
• rRNA modification
• transcription initiation at mitochondrial promoter

Molecular functions

• DNA binding
• mitochondrial transcription factor activity
• RNA binding
• rRNA (adenine-N6,N6-)-dimethyltransferase activity
• S-adenosyl-L-methionine binding

Cellular components

• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Ribosomal RNA adenine methyltransferase KsgA/Erm
• Ribosomal RNA adenine dimethylase
• Ribosomal RNA adenine methylase transferase, conserved site
• Ribosomal RNA adenine methylase transferase, N-terminal
• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Ribosomal RNA adenine dimethylase
• rRNA adenine dimethylase-like, C-terminal

KeywordsUniProt

• DNA-binding
• Methyltransferase
• Mitochondrion
• RNA-binding
• rRNA processing
• S-adenosyl-L-methionine
• Transcription
• Transcription regulation
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of TFB1M in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TFAM
• POLRMT