tropomyosin alpha-1 chain; tropomyosin-1; alpha-tropomyosin (TPM1, C15orf13, TMSA)
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Function
- binds to actin filaments in muscle & non-muscle cells
- role, in association with the troponin complex, in Ca+2 dependent regulation of vertebrate striated muscle contraction
- smooth muscle contraction is regulated by interaction with caldesmon
- in non-muscle cells, implicated in stabilizing cytoskeleton actin filaments
Structure
- heterodimer of an alpha & a beta chain
- the molecule is in a coiled coil structure that is formed by 2 polypeptide chains
- the sequence exhibits a prominent 7-residues periodicity
- belongs to the tropomyosin family
Compartment
Alternative splicing
named isoforms=6 additional isoforms seem to exist
Expression
- isoform 1 is expressed in adult & fetal skeletal muscle & cardiac muscle
- higher expression levels in cardiac muscle
- isoform 10 is expressed in adult & fetal cardiac muscle, but not in skeletal muscle
Pathology
- detected in primary breast cancer tissues but undetectable in normal breast tissues in Sudanese patients
- defects in TPM1 are the cause of
- familial hypertrophic cardiomyopathy type 3
- dilated cardiomyopathy type 1Y (CMD1Y)
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P09493.html
- ↑ Familial hypertrophic cardiomyopathy mutation database http://www.angis.org.au/Databases/heart/heartbreak.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM
- ↑ Harris RA et al Cluster analysis of an extensive human breast cancer cell line protein expression map database. Proteomics. 2002 Feb;2(2):212-23 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11840567
Database
- UniProt: http://www.uniprot.org/uniprot/P09493.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7168
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7168
- OMIM: https://mirror.omim.org/entry/115196
- OMIM: https://mirror.omim.org/entry/191010
- OMIM: https://mirror.omim.org/entry/611878