InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCAP

Summary

InnateDB Protein

IDBP-45924.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TCAP

Protein Name

titin-cap (telethonin)

Synonyms

CMD1N; LGMD2G; T-cap; TELE; telethonin;

Species

Homo sapiens

Ensembl Protein

ENSP00000312624

InnateDB Gene

IDBG-45922 (TCAP)

Protein Structure

UniProt Annotation

Function

Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.

Subcellular Localization

Cytoplasm, myofibril, sarcomere {ECO:0000269PubMed:16713295}.

Disease Associations

Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:15582318}. Note=The disease is caused by mutations affecting the gene represented in this entry.Limb-girdle muscular dystrophy 2G (LGMD2G) [MIM:601954]: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. {ECO:0000269PubMed:10655062}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1N (CMD1N) [MIM:607487]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:12507422, ECO:0000269PubMed:15582318, ECO:0000269PubMed:16352453}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Heart and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008307	structural constituent of muscle
GO:0030674	protein binding, bridging
GO:0031432	titin binding
GO:0044325	ion channel binding
GO:0051373	FATZ binding
GO:0070080	titin Z domain binding

Biological Process

GO:0001756	somitogenesis
GO:0003009	skeletal muscle contraction
GO:0003300	cardiac muscle hypertrophy
GO:0006461	protein complex assembly
GO:0007512	adult heart development
GO:0014898	cardiac muscle hypertrophy in response to stress
GO:0030049	muscle filament sliding
GO:0030240	skeletal muscle thin filament assembly
GO:0030241	skeletal muscle myosin thick filament assembly
GO:0030916	otic vesicle formation
GO:0035994	response to muscle stretch
GO:0035995	detection of muscle stretch
GO:0045214	sarcomere organization
GO:0048739	cardiac muscle fiber development
GO:0048769	sarcomerogenesis
GO:0050982	detection of mechanical stimulus
GO:0055003	cardiac myofibril assembly
GO:0055008	cardiac muscle tissue morphogenesis
GO:0060048	cardiac muscle contraction