Aliases for SIPA1L3 Gene
External Ids for SIPA1L3 Gene
Previous GeneCards Identifiers for SIPA1L3 Gene
This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
GeneCards Summary for SIPA1L3 Gene
SIPA1L3 (Signal Induced Proliferation Associated 1 Like 3) is a Protein Coding gene. Diseases associated with SIPA1L3 include Cataract 45 and Cataract 44. Among its related pathways are Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is SIPA1L1.
UniProtKB/Swiss-Prot Summary for SIPA1L3 Gene
Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).