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Ask your administrator if you think this is wrong. ======= LRTOMT ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: LRTOMT * **<color #00a2e8>Official Name</color>**: leucine rich transmembrane and O-methyltransferase domain containing * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=220074|220074]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/"Q8WZ04|Q96E66"|"Q8WZ04|Q96E66"]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LRTOMT&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LRTOMT|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612414|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Methyltransf 3| |LRR 4| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |L-dopa O-methyltransferase activity| |catechol O-methyltransferase activity| |orcinol O-methyltransferase activity| |catecholamine catabolic process| |catechol-containing compound catabolic process| |phenol-containing compound catabolic process| |auditory receptor cell development| |neurotransmitter catabolic process| |inner ear auditory receptor cell differentiation| |dopamine metabolic process| |hair cell differentiation| |inner ear receptor cell development| |catechol-containing compound metabolic process| |catecholamine metabolic process| |neuroepithelial cell differentiation| |columnar/cuboidal epithelial cell development| |inner ear receptor cell differentiation| |mechanoreceptor differentiation| |organic hydroxy compound catabolic process| |phenol-containing compound metabolic process| |neurotransmitter metabolic process| |columnar/cuboidal epithelial cell differentiation| |sensory perception of sound| |sensory perception of mechanical stimulus| |epithelial cell development| |inner ear development| |ammonium ion metabolic process| |ear development| |methylation| |epidermal cell differentiation| |regulation of neurotransmitter levels| |epidermis development| |aromatic compound catabolic process| |cellular component| |organic hydroxy compound metabolic process| |organic cyclic compound catabolic process| |drug metabolic process| |sensory organ development| |epithelial cell differentiation| |neuron development| |sensory perception| |neuron differentiation| |endoplasmic reticulum| |organonitrogen compound catabolic process| |epithelium development| |nervous system process| |generation of neurons| |neurogenesis| |cell development| |tissue development| |organic substance catabolic process| |cellular catabolic process| |system process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp131|L-74142 5μM R03 exp131]]|1.71| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 14526 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.4 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='LRTOMT Expression in NALM6 Cells: 4.4'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1