TOMT
entrez
220074
canonical
uniprot
Q8WZ04
canonical
ensembl
ENSG00000284922
resolver
ensp
ENSP00000305742
resolver
genesymbol
TOMT
resolver
genesymbol_syn
COMT2
resolver
genesymbol_syn
LRTOMT
resolver
hgnc
HGNC:55527
resolver
uniprot
B7Z816
resolver
uniprot_entry
TOMT_HUMAN
resolver
uniprot_sec
B7Z816
resolver
amino_acid_sequence
MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATVLADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]: A 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. {ECO:0000269|PubMed:18794526, ECO:0000269|PubMed:18953341, ECO:0000269|PubMed:28281779}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (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). {ECO:0000250|UniProtKB:A1Y9I9, ECO:0000269|PubMed:18794526}.
uniprot
proteins
mass_dalton
32155
uniprot
proteins
protein_family
Cation-dependent O-methyltransferase family
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18794526
uniprot
proteins
pubmed
18953341
uniprot
proteins
pubmed
28281779
uniprot
proteins
pubmed
28504928
uniprot
proteins
sequence_length
291
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:28504928}. Endoplasmic reticulum {ECO:0000250|UniProtKB:A1Y9I9}. Note=Localized to the cell body of the cochlear hair cells, but is not present in the stereocilia (PubMed:28504928). Present but not restricted to the apical cistern, Hensen's body and the subsurface cistern (By similarity). {ECO:0000250|UniProtKB:A1Y9I9, ECO:0000269|PubMed:28504928}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..51; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins