CIB1 Gene

The CIB1 gene (CIB1 stands for "Calcium And Integrin Binding 1") is a protein-coding gene located on chromosome 15q26.1.

The CIB1 gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, activated p21 kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation.

Diseases associated with CIB1 include.

• Epidermodysplasia verruciformis.

The encoded calcium-binding protein, plays a role in the regulation of numerous cellular processes.Such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. It is involved in megakaryocyte differentiation in bone marrow by negatively regulating the thrombopoietin-mediated signaling pathway. Furthermore, it plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes, preventing platelet aggregation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, with the effect negatively regulated by PAK1. Functions as a negative regulator of stress-activated MAP kinase (MAPK) signaling pathways. Regulates serine/threonine protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development and disrupts the MT depolymerization activity of STMN2, attenuating NGF-induced neurite growth and MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy through activation of the calcineurin/NFAT pathway. May regulate cell cycle and differentiation of spermatogenic germ cells and/or differentiation of supporting Sertoli cells.

1. Burger B et al (2014) Epidermodysplasia verruciformis. Curr Probl Dermatol 45:123-131.
2. Kim T et al (2010) Development of aggressive squamous cell carcinoma in epidermodysplasia verruciformis associated with human papillomavirus type 22b. Dermatology 220:326-328.
3. Wu CJ et al (2020) Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components. J Biol Chem 295:16086-16099.