Rabbit KRIT1 Polyclonal Antibody | anti-KRIT1 antibody
KRIT1 Polyclonal Antibody
IHC: 1:50 - 1:200
IF: 1:50 - 1:100
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Immunofluorescence (IF)
(Immunofluorescence analysis of HeLa cells using KRIT1 antibody. Blue: DAPI for nuclear staining.)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Uniprot Description
KRIT1: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits EKR1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. Defects in KRIT1 are the cause of cerebral cavernous malformations type 1 (CCM1). Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and usually present clinically during the 3rd to 5th decade of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: G protein regulator, misc.; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 7q21.2
Cellular Component: extracellular space; microtubule; cytoplasm; plasma membrane; intercellular junction
Molecular Function: phosphatidylinositol-4,5-bisphosphate binding; protein binding; microtubule binding; protein complex binding
Biological Process: negative regulation of angiogenesis; positive regulation of protein binding; cell redox homeostasis; regulation of catalytic activity; small GTPase mediated signal transduction; negative regulation of endothelial cell proliferation; angiogenesis
Disease: Cerebral Cavernous Malformations
