TOMT
Transmembrane O-methyltransferase
Also known as: CFAP111, COMT2, DFNB63, LRRC51, LRTOMT, LRTOMT1, LRTOMT2, TOMT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WZ04
- Gene
- TOMT
- Ensembl
- ENSG00000284922
- Chromosome
- 11
- Canonical length
- 291 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Microtubules
OverviewNCBI Gene
This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]
Canonical amino-acid sequenceUniProt
291 residues, UniProt reviewed canonical sequence.
>Q8WZ04|TOMT
1 MGTPWRKRKG IAGPGLPDLS CALVLQPRAQ VGTMSPAIAL AFLPLVVTLL VRYRHYFRLL
61 VRTVLLRSLR DCLSGLRIEE RAFSYVLTHA LPGDPGHILT TLDHWSSRCE YLSHMGPVKG
121 QILMRLVEEK APACVLELGT YCGYSTLLIA RALPPGGRLL TVERDPRTAA VAEKLIRLAG
181 FDEHMVELIV GSSEDVIPCL RTQYQLSRAD LVLLAHRPRC YLRDLQLLEA HALLPAGATV
241 LADHVLFPGA PRFLQYAKSC GRYRCRLHHT GLPDFPAIKD GIAQLTYAGP GLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TOMT 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
- 1
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 8.5 nTPM
Expression across tissuesHPA
Tissue
- testis: 8.5 nTPM
- fallopian tube: 4.8 nTPM
- cerebellum: 0.7 nTPM
- endometrium: 0.7 nTPM
- liver: 0.4 nTPM
- prostate: 0.4 nTPM
Single-cell type
- cardiomyocytes: 52 nCPM
- late spermatids: 26 nCPM
- epicardial cells: 18 nCPM
- adipocytes: 14 nCPM
- mesothelial cells: 13 nCPM
- platelets: 7.1 nCPM
Immune cell
- memory CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebellum: 1.3 nTPM
- hypothalamus: 1.3 nTPM
- white matter: 1.3 nTPM
- basal ganglia: 1.1 nTPM
- cerebral cortex: 1.1 nTPM
- medulla oblongata: 1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TOMT.
Disease | AllUniProt
Conditions TOMT is implicated in, by any mechanism.
- Deafness, autosomal recessive, 63 (DFNB63) MIM:611451
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)
- 1.2
- gnomAD pLI
- 0
- DepMap mean gene effect
- 0.14
- DepMap dependency class
- none
OntologyGO
Biological processes
- auditory receptor cell development
- catecholamine catabolic process
- developmental process
- dopamine catabolic process
- dopamine metabolic process
- methylation
- sensory perception of sound
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TOMT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TOMT as an antibody target. Whether an autoantibody or antibody against TOMT could matter depends on whether native TOMT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TOMT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TOMT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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