TCAP - titin-cap Gene
Also Known as TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin
Species: Homo sapiens
About TCAP
This gene has 2 transcripts (splice variants), 194 orthologues and is associated with 5 phenotypes. Restricted expression toward heart (RPKM 1072.6).
Summary
Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and Other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
TCAP Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_003673.4 | NP_003664.1 | telethonin |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables BMP binding |
IPI
IPI: Inferred from physical interaction
|
17921333 | GOA |
| enables FATZ binding |
IPI
IPI: Inferred from physical interaction
|
15582318 | GOA |
| enables molecular adaptor activity |
EXP
EXP: Inferred from Experiment
|
16713295 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10984498 | GOA |
| enables protein-macromolecule adaptor activity |
IDA
IDA: Inferred from direct assay
|
15582318 | GOA |
| enables structural constituent of muscle |
IMP
IMP: Inferred from mutant phenotype
|
9817758 | GOA |
| enables titin Z domain binding |
IPI
IPI: Inferred from physical interaction
|
11846417 | GOA |
| enables titin binding |
IPI
IPI: Inferred from physical interaction
|
9817758 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
11697903 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Z disc |
IDA
IDA: Inferred from direct assay
|
9817758 | GOA |
TCAP Protein Structure
Telethonin: Telethonin protein (1 - 167)
- 0
- 100
- 167 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
telethonin |
|
TCAP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TCAP | O15273 | KRTAP19-7 | Homo sapiens | Q3SYF9 | 32296183 | |
|
Intra
|
TCAP | O15273 | KRTAP19-7 | Homo sapiens | Q3SYF9 | 32296183 | |
|
Intra
|
TCAP | O15273 | KRTAP19-7 | Homo sapiens | Q3SYF9 | 32296183 | |
|
Intra
|
TCAP | O15273 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TCAP | O15273 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TCAP | O15273 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TCAP | O15273 | ATN1 | Homo sapiens | Q86V38 | 32814053 | |
|
Intra
|
TCAP | O15273 | ATN1 | Homo sapiens | Q86V38 | 32814053 | |
|
Intra
|
TCAP | O15273 | ATN1 | Homo sapiens | Q86V38 | 32814053 | |
|
Intra
|
TCAP | O15273 | ACTMAP | Homo sapiens | Q5BKX5-3 | 32296183 | |
|
Intra
|
TCAP | O15273 | ACTMAP | Homo sapiens | Q5BKX5-3 | 32296183 | |
|
Intra
|
TCAP | O15273 | ACTMAP | Homo sapiens | Q5BKX5-3 | 32296183 | |
|
Intra
|
TCAP | O15273 | FAM153B | Homo sapiens | P0C7A2-2 | 32296183 | |
|
Intra
|
TCAP | O15273 | FAM153B | Homo sapiens | P0C7A2-2 | 32296183 | |
|
Intra
|
TCAP | O15273 | FAM153B | Homo sapiens | P0C7A2-2 | 32296183 | |
|
Intra
|
TCAP | O15273 | SAPCD1 | Homo sapiens | Q5SSQ6-2 | 32296183 | |
|
Intra
|
TCAP | O15273 | SAPCD1 | Homo sapiens | Q5SSQ6-2 | 32296183 | |
|
Intra
|
TCAP | O15273 | SAPCD1 | Homo sapiens | Q5SSQ6-2 | 32296183 | |
|
Intra
|
TCAP | O15273 | CDCA4 | Homo sapiens | Q9BXL8 | 32296183 | |
|
Intra
|
TCAP | O15273 | CDCA4 | Homo sapiens | Q9BXL8 | 32296183 | |
|
Intra
|
TCAP | O15273 | CDCA4 | Homo sapiens | Q9BXL8 | 32296183 | |
|
Intra
|
TCAP | O15273 | BLZF1 | Homo sapiens | Q9H2G9 | 32296183 | |
|
Intra
|
TCAP | O15273 | BLZF1 | Homo sapiens | Q9H2G9 | 32296183 | |
|
Intra
|
TCAP | O15273 | BLZF1 | Homo sapiens | Q9H2G9 | 32296183 | |
|
Intra
|
TCAP | O15273 | F13A1 | Homo sapiens | P00488 | 32814053 | |
|
Intra
|
TCAP | O15273 | F13A1 | Homo sapiens | P00488 | 32814053 | |
|
Intra
|
TCAP | O15273 | F13A1 | Homo sapiens | P00488 | 32814053 | |
|
Intra
|
TCAP | O15273 | q9y649_human | Homo sapiens | Q9Y649 | 32814053 | |
|
Intra
|
TCAP | O15273 | q9y649_human | Homo sapiens | Q9Y649 | 32814053 | |
|
Intra
|
TCAP | O15273 | q9y649_human | Homo sapiens | Q9Y649 | 32814053 | |
|
Intra
|
TCAP | O15273 | GIPC1 | Homo sapiens | O14908-2 | 32814053 | |
|
Intra
|
TCAP | O15273 | GIPC1 | Homo sapiens | O14908-2 | 32814053 | |
|
Intra
|
TCAP | O15273 | GIPC1 | Homo sapiens | O14908-2 | 32814053 | |
|
Intra
|
TCAP | O15273 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
TCAP | O15273 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
TCAP | O15273 | FGFR3 | Homo sapiens | P22607 | 32814053 | |
|
Intra
|
TCAP | O15273 | GSN | Homo sapiens | P06396 | 32814053 | |
|
Intra
|
TCAP | O15273 | GSN | Homo sapiens | P06396 | 32814053 | |
|
Intra
|
TCAP | O15273 | GSN | Homo sapiens | P06396 | 32814053 | |
|
Intra
|
TCAP | O15273 | HSPA8 | Homo sapiens | P11142 | 28514442 | |
|
Intra
|
TCAP | O15273 | HSPA8 | Homo sapiens | P11142 | 23414517 | |
|
Intra
|
TCAP | O15273 | HSPA8 | Homo sapiens | P11142 | 33961781 | |
|
Intra
|
TCAP | O15273 | VIM | Homo sapiens | P08670 | 32814053 | |
|
Intra
|
TCAP | O15273 | VIM | Homo sapiens | P08670 | 32814053 | |
|
Intra
|
TCAP | O15273 | VIM | Homo sapiens | P08670 | 32814053 | |
|
Intra
|
TCAP | O15273 | TRAF2 | Homo sapiens | Q12933 | 32296183 | |
|
Intra
|
TCAP | O15273 | TRAF2 | Homo sapiens | Q12933 | 32296183 | |
|
Intra
|
TCAP | O15273 | TRAF2 | Homo sapiens | Q12933 | 32296183 | |
|
Intra
|
TCAP | O15273 | ASB6 | Homo sapiens | Q9NWX5 | 32296183 | |
|
Intra
|
TCAP | O15273 | ASB6 | Homo sapiens | Q9NWX5 | 32296183 | |
|
Intra
|
TCAP | O15273 | ASB6 | Homo sapiens | Q9NWX5 | 32296183 | |
|
Intra
|
TCAP | O15273 | TTN | Homo sapiens | Q8WZ42 | 11846417 | |
|
Intra
|
TCAP | O15273 | TTN | Homo sapiens | Q8WZ42 | 23414517 | |
|
Intra
|
TCAP | O15273 | TTN | Homo sapiens | Q8WZ42 | 15582318 | |
|
Intra
|
TCAP | O15273 | LAMTOR5 | Homo sapiens | O43504 | 32296183 | |
|
Intra
|
TCAP | O15273 | LAMTOR5 | Homo sapiens | O43504 | 23414517 | |
|
Intra
|
TCAP | O15273 | LAMTOR5 | Homo sapiens | O43504 | 32296183 | |
|
Intra
|
TCAP | O15273 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
TCAP | O15273 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
TCAP | O15273 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
TCAP | O15273 | PLEKHF2 | Homo sapiens | Q9H8W4 | 32296183 | |
|
Intra
|
TCAP | O15273 | PLEKHF2 | Homo sapiens | Q9H8W4 | 32296183 | |
|
Intra
|
TCAP | O15273 | PLEKHF2 | Homo sapiens | Q9H8W4 | 32296183 | |
|
Intra
|
TCAP | O15273 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
TCAP | O15273 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
TCAP | O15273 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
TCAP | O15273 | MYOZ2 | Homo sapiens | Q9NPC6 | 15582318 | |
|
Intra
|
TCAP | O15273 | IKZF3 | Homo sapiens | Q9UKT9 | 32296183 | |
|
Intra
|
TCAP | O15273 | IKZF3 | Homo sapiens | Q9UKT9 | 32296183 | |
|
Intra
|
TCAP | O15273 | IKZF3 | Homo sapiens | Q9UKT9 | 32296183 | |
|
Intra
|
TCAP | O15273 | CBX5 | Homo sapiens | P45973 | 32296183 | |
|
Intra
|
TCAP | O15273 | CBX5 | Homo sapiens | P45973 | 32296183 | |
|
Intra
|
TCAP | O15273 | CBX5 | Homo sapiens | P45973 | 33961781 | |
|
Intra
|
TCAP | O15273 | CBX5 | Homo sapiens | P45973 | 32296183 | |
|
Intra
|
TCAP | O15273 | CBX5 | Homo sapiens | P45973 | 28514442 | |
|
Intra
|
TCAP | O15273 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
TCAP | O15273 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
TCAP | O15273 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
TCAP | O15273 | ATXN1 | Homo sapiens | P54253 | 23414517 | |
|
Intra
|
TCAP | O15273 | ATXN1 | Homo sapiens | P54253 | 16713569 | |
|
Intra
|
TCAP | O15273 | TTC19 | Homo sapiens | Q6DKK2 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
|
| Creatine Phosphokinase, Elevated Serum |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Muscular Dystrophy |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Limb-Girdle Muscular Dystrophy Type 1a |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
|
| Myopathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
|
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
|
| Tibial Muscular Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
|
| Myopathy, Myofibrillar, 3 |
|
|
| Brugada Syndrome |
|
|
| Cylindrical Spirals Myopathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
|
| Neuromuscular Disease |
|
|
| Myopathy, Spheroid Body |
|
|
| Myopathy, Myofibrillar, 4 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
|
| Cardiomyopathy, Dilated, 1m |
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
|
| Myofibrillar Myopathy |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
|
| Intestinal Pseudo-Obstruction |
|
|
| Left Ventricular Noncompaction |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Restrictive Cardiomyopathy |
|
|
| Distal Arthrogryposis |
|
|
| Familial Atrial Fibrillation |
|
|
| Walker-Warburg Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | TCAP | RGD | RGD:1592387 |
| Mus musculus | TCAP | MGD | MGI:1330233 |
| Canis familiaris | TCAP | VGNC | VGNC:47181 |
| Bos taurus | TCAP | VGNC | VGNC:35678 |
| Felis catus | TCAP | VGNC | VGNC:66014 |
| Others | TCAP | NCBI |