Tomt
entrez
791260
canonical
uniprot
A1Y9I9
canonical
ensembl
ENSMUSG00000078630
resolver
ensp
ENSMUSP00000102582
resolver
ensp
ENSMUSP00000102583
resolver
enst
ENSMUST00000106969
resolver
enst
ENSMUST00000106970
resolver
genesymbol
Tomt
resolver
genesymbol_syn
Comt2
resolver
uniprot_entry
TOMT_MOUSE
resolver
amino_acid_sequence
MSPAIALAFLPLVVTLLVRYRHHFRLLVRTVLLRGFRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSCCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGSRLLTVERDSRTAAVAEKVIRLAGFDEQMVELIAGSSEEVIPRLRAQHQLNRADLVLLAHRPRYYLRDLQLLEAHALLPHGATVLADHVLFPGAPRFLQYTKSCGRYRCRLHHTSLPDFPAIKDGIAQLTYTGPG
uniprot
proteins
ec_number
2.1.1.6
uniprot
proteins
function
FUNCTION: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (PubMed:18794526). Required for auditory function (PubMed:18794526, PubMed:28504928). 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 (PubMed:28504928). {ECO:0000269|PubMed:18794526, ECO:0000269|PubMed:28504928}.
uniprot
proteins
mass_dalton
28846
uniprot
proteins
mutagenesis
MUTAGEN 22..25; /note="Missing: Absence of auditory brain stem response (ABR) to click stimuli demonstrates that the mice are profoundly deaf. Distortion product otoacoustic emissions (DPOAEs) are absent at 4 weeks of age at all frequencies tested. Normal hair bundle morphology as at postnatal day (P) 5 the sensory epithelia are patterned into three rows of outer hair cells (OHCs) and one row of inner hair cells (IHCs). The bundles of OHCs appear similar in size to those of wild-type mice and form a normal staircase pattern."; /evidence="ECO:0000269|PubMed:28504928"; MUTAGEN 48; /note="R->L: In add; reduces methyltransferase activity; causes hyperkinesis, circling, head-tossing, aggression, progressive degeneration of the organ of Corti, hair cell defects and profound deafness. Distortion product otoacoustic emissions (DPOAEs) are absent at 4 weeks of age at all frequencies tested. At postnatal day (P) 5 the sensory epithelia are patterned into three rows of outer hair cells (OHCs) and one row of inner hair cells (IHCs) with no obvious structural abnormalities. The bundles of OHCs appear similar in size to those of wild-type mice and form a normal staircase pattern. The hair bundles of OHCs have a slightly more rounded morphology, especially in basal regions of the cochlea. The morphology of IHCs is not significantly altered. Hair cells are maintained in the presence of gentamicin, an aminoglycoside antibiotic that enters hair cells through their transduction channels and normally causes hair cell death. Mechanotransduction currents are very small in P4 hair cells and completely absent in P7 hair cells. Membrane potential, outward-evoked currents and nonlinear capacitance are normal in OHCs. No difference in the expression or localization of tip link proteins CDH23 and PCDH15 or ATP2B2, MYO7A, ESPN and WHRN proteins at P5-P8 in hair bundles of hair cells. No difference in the number of tip links in IHCs and OHCs at P7-P8. No difference in the levels of catecholamines, including norepinephrine, homovanillic acid (HVA) and norepinephrine, or serotonin levels in the inner ear. Loss of reverse polarity currents."; /evidence="ECO:0000269|PubMed:18794526, ECO:0000269|PubMed:28504928"; MUTAGEN 108; /note="Y->A: Is able to rescue the mechanotransduction defect of L-48."; /evidence="ECO:0000269|PubMed:28504928"; MUTAGEN 183; /note="H->A: Enhanced interaction with TMC1."; /evidence="ECO:0000269|PubMed:28534737
uniprot
proteins
protein_family
Cation-dependent O-methyltransferase family
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
18794526
uniprot
proteins
pubmed
18953341
uniprot
proteins
pubmed
28504928
uniprot
proteins
pubmed
28534737
uniprot
proteins
sequence_length
258
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18953341, ECO:0000269|PubMed:28504928}. Endoplasmic reticulum {ECO:0000269|PubMed:28504928}. Note=Localized to the cell body of the cochlear hair cells, but is not present in the stereocilia. Present but not restricted to the apical cistern, Hensen's body and the subsurface cistern. {ECO:0000269|PubMed:28504928}.
uniprot
proteins