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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: ankyrin repeat-containing protein Krit1; Cerebral cavernous malformations 1 protein; Cerebral cavernous malformations 1 protein homolog; Krev interaction trapped 1; Krev interaction trapped protein 1
基因别名: 2010007K12Rik; A630036P20Rik; AA432855; AI450393; AI643869; BB155247; BB235701; CAM; CCM1; KRIT1; RGD1305929
UniProt ID: (Human) O00522, (Mouse) Q6S5J6
Entrez Gene ID: (Human) 889, (Rat) 362317, (Mouse) 79264