Gene
ttn.1
- ID
- ZDB-GENE-030616-413
- Name
- titin, tandem duplicate 1
- Symbol
- ttn.1 Nomenclature History
- Previous Names
-
- TTN1 (1)
- ttnb
- ttnl
- hm:zeh1256r
- im:6911926
- si:dZ167C3.1
- si:dz249n21.1
- wu:fc09a12
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity and muscle alpha-actinin binding activity. Involved in myofibril assembly and skeletal muscle tissue development. Predicted to localize to M band; Z disc; and striated muscle thin filament. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Is expressed in several structures, including cardiovascular system; floor plate; mesoderm; musculature system; and pectoral fin. Orthologous to human TTN (titin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 74 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6911926 (7 images)
- IMAGE:7137241 (9 images)
- IMAGE:7152005 (13 images)
- eu247 (19 images)
- IMAGE:7148021 (15 images)
- IMAGE:7158196 (17 images)
- IMAGE:7155830 (17 images)
- IMAGE:7158960 (16 images)
- IMAGE:7159792 (18 images)
- IMAGE:7163675 (13 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2J | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 10 | 608807 |
| dilated cardiomyopathy 1G | Alliance | Cardiomyopathy, dilated, 1G | 604145 |
| hypertrophic cardiomyopathy 9 | Alliance | Cardiomyopathy, familial hypertrophic, 9 | 613765 |
| myofibrillar myopathy 9 | Alliance | Myopathy, myofibrillar, 9, with early respiratory failure | 603689 |
| tibial muscular dystrophy | Alliance | Tibial muscular dystrophy, tardive | 600334 |
| Salih myopathy | 611705 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR040849 | MyBP-C, tri-helix bundle domain |
| Family | IPR039696 | Microfibril-associated glycoprotein 3-like |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | Microfibril-associated glycoprotein 3-like | MyBP-C, tri-helix bundle domain | Protein kinase domain | Protein kinase-like domain superfamily | Tyrosine-protein kinase, active site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:G1K2X0
|
29152 | |||||||||||||
|
UniProtKB:A0A2R8QPI1
|
294 | |||||||||||||
|
UniProtKB:Q7ZZ46
|
22017 | |||||||||||||
|
UniProtKB:A0A2R8PZT6
|
27459 | |||||||||||||
|
UniProtKB:A5X6X6
|
28835 | |||||||||||||
|
UniProtKB:Q7ZZ47
|
670 |
Interactions and Pathways
No data available
Plasmids
No data available