KRIT1

Krev interaction trapped protein 1 or Cerebral cavernous malformations 1 protein is a protein that in humans is encoded by the KRIT1 gene.^[4][5][6][7] 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.^[8] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

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)[1] Band 5 A1|5 2.26 cM Start 3,853,184 bp[1] End 3,895,564 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 889 79264 Ensembl ENSG00000001631 ENSMUSG00000000600 UniProt O00522 Q6S5J6 RefSeq (mRNA) NM_001013406 NM_004912 NM_194454 NM_194455 NM_194456 NM_001170552 NM_030675 RefSeq (protein) 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 Location (UCSC) n/a Chr 5: 3.85 – 3.9 Mb PubMed search [2] [3]
Wikidata
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Interactions

The KRIT1 protein, is 736 amino acids in length and has a variety of functions. KRIT1 has been shown to interact with multiple signaling pathways including; ITGB1BP1.,^[9][10] reactive oxygen species,^[11] cell death,^[12] and angiogenesis.^[13] Related to cerebral cavernous malformations, this protein is required for maintaining the structural integrity of the vasculature.^[14][15]