Entrez Summary: 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].
UniProt Summary: Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217). {ECO:0000269|PubMed:26231217}.
Pfam DomainsGO Terms
Pfam Domains
Rap GAP
DUF3401
GO Terms
tricellular tight junction
establishment of epithelial cell polarity
epithelial cell morphogenesis
stress fiber
apical part of cell
hematopoietic progenitor cell differentiation
establishment of cell polarity
epithelial cell development
establishment or maintenance of cell polarity
GTPase activator activity
apical plasma membrane
regulation of small GTPase mediated signal transduction
eye development
visual system development
sensory system development
positive regulation of GTPase activity
regulation of GTPase activity
sensory organ development
cell morphogenesis involved in differentiation
hemopoiesis
hematopoietic or lymphoid organ development
immune system development
epithelial cell differentiation
cell morphogenesis
positive regulation of hydrolase activity
cellular component morphogenesis
cytoskeleton organization
epithelium development
regulation of hydrolase activity
positive regulation of catalytic activity
extracellular space
cell development
tissue development
positive regulation of molecular function
regulation of intracellular signal transduction
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)