CNN1
Description
The CNN1 (calponin 1) is a protein-coding gene located on chromosome 19.
Calponin 1 is a basic smooth muscle protein encoded by the CNN1 gene located on chromosome 19. It is a 33.2-KDa protein with 297 amino acids and an isoelectric point of 9.1. Calponin 1 is an actin filament-associated regulatory protein that is highly conserved in mammals. Its expression is specific to mature smooth muscle cells, suggesting a role in contractile functions. Calponin 1 is up-regulated in smooth muscle tissues during postnatal development and is more abundant in phasic smooth muscle of the digestive tract. The structure of calponin 1 consists of a conserved N-terminal calponin homology (CH) domain, a conserved middle region with two actin-binding sites, and a C-terminal variable region. The CH domain is found in several actin-binding proteins and is involved in actin binding or regulation.
CNN1 is also known as HEL-S-14, SMCC, Sm-Calp.
Associated Diseases
- cancer
- breast cancer
- colorectal cancer
- multiple epiphyseal dysplasia due to collagen 9 anomaly
- spondyloepimetaphyseal dysplasia, Missouri type
- Weismann-Netter syndrome
- achalasia-alacrima syndrome
