KRIT1 human: KRIT1, ankyrin repeat containing
Aliases: krev interaction trapped protein 1, krev interaction trapped 1, ankyrin repeat-containing protein Krit1, cerebral cavernous malformations 1 protein, KRIT1, CAM, CCM1
Pfam Domain Structure
From KRIT1 (human)
Protein Overview
| Official Gene Name | KRIT1 (H. sapiens) |
| RefSeq Protein Name | KRIT1, ankyrin repeat containing |
| UniProt Gene Symbol | KRIT1_HUMAN |
| UniProt Name | Krev interaction trapped protein 1 OS=Homo sapiens GN=KRIT1 |
| Entrez Gene Summary | 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. [provided by RefSeq] |
References
Consortium Results & Data
Results & Data
| Ortholog | Species | Type | Description | Method | Status | Source | Publications |
|---|---|---|---|---|---|---|---|
| KRIT1 | human | phosphorylation site | KRIT1 | 2 sites in 99.5% coverage of 735 amino acids | Ginsberg |
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