Tbio MYOT Myotilin

Protein Summary

Description

Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]

Uniprot Accession IDs

• Q9UBF9
• A0A4R6
• B4DT79

Gene Name

• MYOT

Ensembl ID

• ENST00000421631
• ENSP00000391185
• ENSG00000120729

Symbol

• TTID
• MFM3
• TTID
• TTOD
• LGMD1
• LGMD1A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.73
gene perturbation	0.68
cellular component	0.64
PubMedID	0.57
disease	0.54

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: 122.49   (req: < 5)

Gene RIFs: 22   (req: <= 3)

Antibodies: 224   (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: 122.49   (req: >= 5)

Gene RIFs: 22   (req: > 3)

Antibodies: 224   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

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