| Gene Symbol |
KRIT1
|
| Entrez Gene |
889
|
| Alt Symbol |
CAM, CCM1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
KRIT1, ankyrin repeat containing
|
| Other Description |
ankyrin repeat-containing protein Krit1|cerebral cavernous malformations 1 protein|krev interaction trapped 1|krev interaction trapped protein 1
|
| Swissprots |
Q506L6 Q9H180 O00522 O43894 Q75N19 A6NNU0 Q9HAX5 Q6U276 Q9H264
|
| Accessions |
AAC01535 AAS07420 AAY25568 EAL24152 EAW76854 EAW76855 O00522 AF296765 AAG10220 AF310133 AAG47774 AF388384 AAM19465 AJ294850 CAC17608 AK055305 BAG51497 AK056537 BAG51741 AK226131 AL049325 AY380057 AAQ94072 AY380058 AAQ94073 AY380059 AAQ94074 AY380060 AAQ94075 AY993944 AAY25567 BC094684 AAH94684 BQ070587 BX648659 U90268 AAB58582 XM_005250660 XP_005250717 XM_005250662 XP_005250719 XM_005250664 XP_005250721 XM_005250665 XP_005250722 XM_005250666 XP_005250723 XM_005250667 XP_005250724 XM_005250668 XP_005250725 XM_005250669 XP_005250726 XM_006716160 XP_006716223 XM_006716161 XP_006716224 XM_006716162 XP_006716225 XM_006716163 XP_006716226 XM_011516651 XP_011514953 XM_011516652 XP_011514954 XM_011516653 XP_011514955 XM_011516654 XP_011514956 XM_011516655 XP_011514957 XM_011516656 XP_011514958 XM_011516657 XP_011514959 XM_011516658 XP_011514960 XM_011516659 XP_011514961 XM_011516660 XP_011514962 XM_011516661 XP_011514963 NM_001013406 NP_001013424 NM_004912 NP_004903 NM_194454 NP_919436 NM_194455 NP_919437 NM_194456 NP_919438
|
| Function |
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). 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 ERK1/2 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 a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule- associated protein that binds to phosphatidylinositol 4,5
|
| Subcellular Location |
Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell junction. Note=KRIT1 and CDH5 reciprocally regulate their localization to endothelial cell-cell junctions. Association with RAP1 relocalizes KRIT1 from microtubules to cell junction membranes. Translocates from the cytoplasm along microtubules to the cell membrane in a ITGB1BP1- dependent manner.
|
| Tissue Specificity |
Low levels in brain. Very weak expression found in heart and muscle. {ECO:0000269|PubMed:9285558}.
|
| Top Pathways |
Rap1 signaling pathway
|