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TPM1 (NM_001301289) - tropomyosin 1

Tropomyosin Alpha-1 Chain Isoform Tpm1.8cy

Mutations Visualisation

Protein summary

This is an alternative isoform of TPM1 protein. View all 9 isoforms
TPM1: tropomyosin alpha-1 chain isoform Tpm1.8cy
Description:

This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008].

Strand
+
Chromosome
15
Protein
248 residues
All mutations
98
PTM sites
23
CDS
63,340,774 - 63,363,371
Transcription
63,340,635 - 63,364,113
1.21% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 7168
UniProt