Q8WZ04B7Z816TOMT_HUMANTransmembrane O-methyltransferase2.1.1.6Catechol O-methyltransferase 2Protein LRTOMT2TOMTCOMT2LRTOMTPP7517Homo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoMutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2)VARIANTS DFNB63 GLN-81; ARG-105 AND LYS-110Large-scale cDNA transfection screening for genes related to cancer development and progression.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)Complete sequencing and characterization of 21,243 full-length human cDNAs.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Human chromosome 11 DNA sequence and analysis including novel gene identification.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]A catechol-O-methyltransferase that is essential for auditory function in mice and humans.IDENTIFICATIONFUNCTIONVARIANT GLN-208VARIANTS DFNB63 PRO-16 AND HIS-158The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells.SUBCELLULAR LOCATIONMolecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.VARIANT DFNB63 TRP-52Catalyzes 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).a catechol + S-adenosyl-L-methionine = a guaiacol + H(+) + S-adenosyl-L-homocysteineInteracts with LHFPL5, PCDH15, TMC1, TMC2 and TMIE. Interacts directly with TMC1. The interaction of TOMT with TMC1 and TMC2 is required for the transportation of TMC1/2 into the stereocilia of hair cells.Isoform 1MembraneSingle-pass membrane proteinIsoform 2CytoplasmEndoplasmic reticulumLocalized 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).Q8WZ04-11D'Q8WZ04-22E'Deafness, autosomal recessive, 63
DFNB63
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.The disease is caused by variants affecting the gene represented in this entry.LRRC51 and TOMT were originally considered as alternative reading frames, LRTOMT1 and LRTOMT2 of the same LRTOMT gene in primates.Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.Alternative splicingCatecholamine metabolismCytoplasmDeafnessDisease variantEndoplasmic reticulumHearingMembraneMethyltransferaseNeurotransmitter degradationNon-syndromic deafnessReference proteomeS-adenosyl-L-methionineTransferaseTransmembraneTransmembrane helixS-adenosyl-L-methionineS-adenosyl-L-methionineS-adenosyl-L-methionineS-adenosyl-L-methionineS-adenosyl-L-methionineLPRWRQWREKRHRQMGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATVLADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG
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