KRIT1

KRIT1
Available structures
PDB	Ortholog search: C9JD81 PDBe C9JD81 RCSB
List of PDB id codes
	3U7D, 4DX8, 4DXA, 4HDO, 4HDQ, 4JIF, 4TKN, 5D68
Identifiers
Aliases	KRIT1, ankyrin repeat containing, CAM, CCM1
External IDs	OMIM: 604214; MGI: 1930618; HomoloGene: 12746; GeneCards: KRIT1; OMA:KRIT1 - orthologs
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	3,895,564 bp
RNA expression pattern
	n/a
	Top expressed in
	Rostral migratory stream; ; interventricular septum; ; mammillary body; ; lateral septal nucleus; ; dorsomedial hypothalamic nucleus; ; anterior amygdaloid area; ; tail of embryo; ; spermatocyte; ; lateral hypothalamus; ; genital tubercle;
	More reference expression data
Gene ontology
Molecular function	microtubule binding; protein binding; phosphatidylinositol-4,5-bisphosphate binding; protein-containing complex binding; GTPase regulator activity;
Cellular component	cytoskeleton; membrane; microtubule; plasma membrane; cytoplasm; cell-cell junction; cell junction; extracellular space;
Biological process	regulation of establishment of cell polarity; negative regulation of angiogenesis; small GTPase mediated signal transduction; angiogenesis; negative regulation of endothelial cell proliferation; negative regulation of endothelial cell apoptotic process; negative regulation of endothelial cell migration; positive regulation of protein binding; cell redox homeostasis; regulation of catalytic activity;
	Sources:Amigo / QuickGO
Orthologs
	889
	79264
	ENSG00000001631
	ENSMUSG00000000600
	O00522
	Q6S5J6
	NM_001013406; NM_004912; NM_194454; NM_194455; NM_194456
	NM_001170552; NM_030675
NP_001013424; NP_004903; NP_919436; NP_919437; NP_919438;
	NP_001337598; NP_001337599; NP_001337600; NP_001337601; NP_001337602; NP_001337603; NP_001337604; NP_001337605; NP_001337606; NP_001337607; NP_001337608; NP_001337609; NP_001337610; NP_001337611; NP_001337612; NP_001337613; NP_001337614; NP_001337615; NP_001337616; NP_001337617; NP_001337618; NP_001337619; NP_001337620; NP_001337621; NP_001337622; NP_001337623; NP_001337624; NP_001337625; NP_001337626
	NP_001164023; NP_109600
	Wikidata
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Krev interaction trapped protein 1 or Cerebral cavernous malformations 1 protein is a protein that in humans is encoded by the KRIT1 gene. This gene contains 16 coding exons and is located on chromosome 7q21.2. Loss of function mutations in KRIT1 result in the onset of cerebral cavernous malformation. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.