TCAP

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]

Description

Titin-cap

Tissue specificity

Group enriched (heart muscle, skeletal muscle, tongue)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (39665349 - 39666554)

Ensembl ID

ENSG00000173991  (ver. 103.38)

Orthologs

Mouse Tcap: ENSMUSG00000007877

UniProt

O15273

neXtProt

NX_O15273

Human splice variants
Mouse splice variants

Protein structure