Cardiovascular Antibodies
Anti-KRIT1 Antibody (CAB16356)
- SKU:
- CAB16356
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cardiovascular
Description
Antibody Name: | Anti-KRIT1 Antibody |
Antibody SKU: | CAB16356 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | IHC |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 467-736 of human KRIT1 (NP_919438.1). |
Application: | IHC |
Recommended Dilution: | IHC 1:50 - 1:200 |
Reactivity: | Human |
Positive Samples: |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 467-736 of human KRIT1 (NP_919438.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | SENL SLQL KPYH KPLQ HVRD WPEI LAEL TNLD PQRE TPQL FLRR DVRL PLEV EKQI EDPL AILI LFDE ARYN LLKG FYTA PDAK LITL ASLL LQIV YGNY ESKK HKQG FLNE ENLK SIVP VTKL KSKA PHWT NRIL HEYK NLST SEGV SKEM HHLQ RMFL QNCW EIPT YGAA FFTG QIFT KASP SNHK VIPV YVGV NIKG LHLL NMET KALL ISLK YGCF MWQL GDTD TCFQ IHSM ENKM SFIV HTKQ AGLV VKLL MKLN GQLM PTER NS |
Gene ID: | 889 |
Uniprot: | O00522 |
Cellular Location: | Cell junction, Cell membrane, Cytoplasm, Peripheral membrane protein, cytoskeleton |
Calculated MW: | 60kDa/78kDa/84kDa |
Observed MW: |
Synonyms: | KRIT1, CAM, CCM1 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis; G protein regulator, misc. Chromosomal Location of Human Ortholog: 7q21.2 Cellular Component: extracellular space; intercellular junction; microtubule; plasma membrane Molecular Function:GTPase regulator activity; microtubule binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding; protein complex binding Biological Process: cell redox homeostasis; negative regulation of angiogenesis; negative regulation of endothelial cell proliferation; small GTPase mediated signal transduction Disease: Cerebral Cavernous Malformations |
NCBI Summary: | 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 Code: | O00522 |
NCBI GenInfo Identifier: | 77432385 |
NCBI Gene ID: | 889 |
NCBI Accession: | O00522.2 |
UniProt Secondary Accession: | O00522,O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264 Q9HAX5, A6NNU0, |
UniProt Related Accession: | O00522 |
Molecular Weight: | 78,650 Da |
NCBI Full Name: | Krev interaction trapped protein 1 |
NCBI Synonym Full Names: | KRIT1, ankyrin repeat containing |
NCBI Official Symbol: | KRIT1 |
NCBI Official Synonym Symbols: | CAM; CCM1 |
NCBI Protein Information: | krev interaction trapped protein 1 |
UniProt Protein Name: | Krev interaction trapped protein 1 |
UniProt Synonym Protein Names: | Cerebral cavernous malformations 1 protein |
Protein Family: | Krev interaction trapped protein |
UniProt Gene Name: | KRIT1 |
UniProt Entry Name: | KRIT1_HUMAN |
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