Tbio Q96E66 Leucine-rich repeat-containing protein 51

Protein Summary

Description

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]

Uniprot Accession IDs

• Q96E66
• B2R7X1
• B6CZ35
• B6CZ36
• B6CZ37
• B6CZ38
• B6CZ39
• B7Z5I4

Gene Name

• LRTOMT

Ensembl ID

• ENST00000289488
• ENSP00000289488
• ENSG00000184154
• ENST00000324866
• ENSP00000440693
• ENST00000423494
• ENSP00000441249
• ENST00000447974
• ENSP00000414271
• ENST00000536917
• ENSP00000443421
• ENST00000538413
• ENSP00000438762
• ENST00000538478
• ENSP00000444583
• ENST00000541614
• ENSP00000438522
• ENST00000615940
• ENSP00000482923
• ENST00000642648
• ENSP00000494362
• ENST00000647530
• ENSP00000494072

Symbol

• LRRC51
• DFNB63
• LRRC51
• CFAP111

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 48.87   (req: < 5)

Gene RIFs: 0   (req: <= 3)

Antibodies: 55   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 48.87   (req: >= 5)

Gene RIFs: 0   (req: > 3)

Antibodies: 55   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 0

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0