Tbio TTN Titin

Protein Summary

Description

Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]

Uniprot Accession IDs

• Q8WZ42
• A6NKB1
• E7EQE6
• E7ET18
• K7ENY1
• Q10465
• Q10466
• Q15598
• Q2XUS3
• Q32Q60
• Q4U1Z6
• Q4ZG20
• Q6NSG0
• Q6PDB1
• Q6PJP0
• Q7KYM2
• Q7KYN4
• Q7KYN5
• Q7LDM3
• Q7Z2X3
• Q8TCG8
• Q8WZ51
• Q8WZ52
• Q8WZ53
• Q8WZB3
• Q92761
• Q92762
• Q9UD97
• Q9UP84
• Q9Y6L9

Gene Name

• TTN

Ensembl ID

• ENST00000342992
• ENSP00000343764
• ENSG00000155657
• ENST00000359218
• ENSP00000352154
• ENST00000360870
• ENSP00000354117
• ENST00000460472
• ENSP00000434586
• ENST00000591111
• ENSP00000465570
• ENST00000615779
• ENSP00000483597

Symbol

• TMD
• CMH9
• CMD1G
• CMPD4
• EOMFC
• HMERF
• MYLK5
• SALMY
• LGMD2J
• LGMDR10

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
protein domain	1
interacting protein	0.99
trait	0.93
biological process	0.91

Protein Classes

DTO Classes

Protein / Kinase / Protein Kinase / Camk Group / Mlck Family / Titin

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: 3227.99   (req: < 5)

Gene RIFs: 251   (req: <= 3)

Antibodies: 178   (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: 3227.99   (req: >= 5)

Gene RIFs: 251   (req: > 3)

Antibodies: 178   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 37

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