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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
Gene Name
Ensembl ID
  • ENST00000421631
  • ENSP00000391185
  • ENSG00000120729

Symbol
  • TTID
  • MFM3
  • TTID
  • TTOD
  • LGMD1
  • LGMD1A
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 114.77   (req: < 5)
Gene RIFs: 21   (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: 114.77   (req: >= 5)
Gene RIFs: 21   (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
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
platelet crit
1
1
1
47.7
smoking cessation
1
1
1
5.3
hematocrit
1
1
1
3.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
platelet crit
1
47.7
smoking cessation
1
5.3
hematocrit
1
3.5
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
myotilin
VGNC:13550
462087
Macaque
myotilin
716285
Mouse
MGI:1889800
58916
Rat
RGD:1310569
291605
Dog
myotilin
VGNC:51746
100855693
Species
Name
OMA
EggNOG
Inparanoid
Chimp
myotilin
Macaque
myotilin
Mouse
Rat
Dog
myotilin
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9UBF9-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Protein-Protein Interactions (79)
1 – 10 of 79
FLNC
Tbio
Novelty:  0.00463205
Score:  0.876
Data Source:  STRINGDB
LDB3
Tbio
Novelty:  0.01178009
Score:  0.851
Data Source:  STRINGDB
TCAP
Tbio
Novelty:  0.00623581
Score:  0.839
Data Source:  STRINGDB
MYOZ1
Tbio
Novelty:  0.03497131
Score:  0.775
Data Source:  STRINGDB
ACTN1
Tbio
Novelty:  0.00654004
Score:  0.773
Data Source:  STRINGDB
BAG3
Tbio
Novelty:  0.0042967
Score:  0.771
Data Source:  STRINGDB
HSPB8
Tbio
Novelty:  0.00298618
Score:  0.75
Data Source:  STRINGDB
NEB
Tbio
Novelty:  0.00174728
Score:  0.741
Data Source:  STRINGDB
DNAJB6
Tbio
Novelty:  0.01248367
Score:  0.694
Data Source:  STRINGDB
CRYAB
Tchem
Novelty:  0.00464213
Score:  0.687
Data Source:  STRINGDB
Publication Statistics
PubMed Score  114.77

PubMed score by year
PubTator Score  65.3

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer