Q8WZ04 · TOMT_HUMAN
- ProteinTransmembrane O-methyltransferase
- GeneTOMT
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids291 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity).
Required for auditory function (PubMed:18794526).
Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).
Required for auditory function (PubMed:18794526).
Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).
Miscellaneous
LRRC51 and TOMT were originally considered as alternative reading frames, LRTOMT1 and LRTOMT2 of the same LRTOMT gene in primates.
Catalytic activity
- a catechol + S-adenosyl-L-methionine = a guaiacol + H+ + S-adenosyl-L-homocysteineThis reaction proceeds in the forward direction.
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 137 | S-adenosyl-L-methionine (UniProtKB | ChEBI) | ||||
Sequence: E | ||||||
Binding site | 139-140 | S-adenosyl-L-methionine (UniProtKB | ChEBI) | ||||
Sequence: GT | ||||||
Binding site | 145 | S-adenosyl-L-methionine (UniProtKB | ChEBI) | ||||
Sequence: S | ||||||
Binding site | 163 | S-adenosyl-L-methionine (UniProtKB | ChEBI) | ||||
Sequence: E | ||||||
Binding site | 193 | S-adenosyl-L-methionine (UniProtKB | ChEBI) | ||||
Sequence: S |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum | |
Cellular Component | plasma membrane | |
Molecular Function | catechol O-methyltransferase activity | |
Biological Process | auditory receptor cell development | |
Biological Process | catecholamine catabolic process | |
Biological Process | developmental process | |
Biological Process | dopamine catabolic process | |
Biological Process | dopamine metabolic process | |
Biological Process | methylation | |
Biological Process | sensory perception of sound |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTransmembrane O-methyltransferase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8WZ04
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 31-51 | Helical | ||||
Sequence: VGTMSPAIALAFLPLVVTLLV |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Deafness, autosomal recessive, 63 (DFNB63)
- Note
- DescriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
- See alsoMIM:611451
Natural variants in DFNB63
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_047554 | 16 | L>P | in DFNB63; uncertain significance; dbSNP:rs891068154 | |
VAR_079506 | 52 | R>W | in DFNB63; uncertain significance; dbSNP:rs1372399805 | |
VAR_054955 | 81 | R>Q | in DFNB63; dbSNP:rs137853185 | |
VAR_054956 | 105 | W>R | in DFNB63; dbSNP:rs137853186 | |
VAR_054957 | 110 | E>K | in DFNB63; dbSNP:rs137853187 | |
VAR_047555 | 158 | R>H | in DFNB63; uncertain significance; dbSNP:rs758115449 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_047554 | 16 | in DFNB63; uncertain significance; dbSNP:rs891068154 | |||
Sequence: L → P | ||||||
Natural variant | VAR_079506 | 52 | in DFNB63; uncertain significance; dbSNP:rs1372399805 | |||
Sequence: R → W | ||||||
Natural variant | VAR_054955 | 81 | in DFNB63; dbSNP:rs137853185 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_054956 | 105 | in DFNB63; dbSNP:rs137853186 | |||
Sequence: W → R | ||||||
Natural variant | VAR_054957 | 110 | in DFNB63; dbSNP:rs137853187 | |||
Sequence: E → K | ||||||
Natural variant | VAR_047555 | 158 | in DFNB63; uncertain significance; dbSNP:rs758115449 | |||
Sequence: R → H | ||||||
Natural variant | VAR_047556 | 208 | in dbSNP:rs61741195 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 7 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000354093 | 1-291 | Transmembrane O-methyltransferase | |||
Sequence: MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATVLADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG |
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q8WZ04-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsD'
- Length291
- Mass (Da)32,155
- Last updated2009-04-14 v3
- ChecksumF6108CBEE0FF49E7
Q8WZ04-2
- Name2
- SynonymsE'
- Differences from canonical
- 28-67: Missing
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y5M8 | A0A2R8Y5M8_HUMAN | TOMT | 258 |
Sequence caution
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_036898 | 28-67 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
EU627069 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
EU627070 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AF289588 EMBL· GenBank· DDBJ | AAL55772.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK302772 EMBL· GenBank· DDBJ | BAH13802.1 EMBL· GenBank· DDBJ | mRNA | ||
AP000812 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. |