Entity Details

Primary name KRIT1
Entity type gene
Source Source Link

Details

PrimaryID889
RefseqGeneNG_012964
SymbolKRIT1
NameKRIT1 ankyrin repeat containing
Chromosome7
Location7q21.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-08-25
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsKRIT1_HUMAN

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001937 negative regulation of endothelial cell proliferation
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0007264 small GTPase mediated signal transduction
GO:0008017 microtubule binding
GO:0010596 negative regulation of endothelial cell migration
GO:0016525 negative regulation of angiogenesis
GO:0030695 GTPase regulator activity
GO:0045454 cell redox homeostasis
GO:2000114 regulation of establishment of cell polarity
GO:2000352 negative regulation of endothelial cell apoptotic process

Diseases

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Disease IDSourceNameDescription
116860 OMIMCerebral cavernous malformations 1 (CCM1)A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. 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. The disease is caused by variants affecting the gene represented in this entry.