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
- Is predicted to enable ATP binding activity and protein kinase activity. Acts upstream of or within myofibril assembly and skeletal muscle tissue development. Predicted to be located in plasma membrane. Is expressed in several structures, including cardiovascular system; floor plate; mesoderm; musculature system; and pectoral fin. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). 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