| Gene Information | |
|---|---|
| Gene Name | CCM1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 736 |
| Protein Names | Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O00522 |
| Gene Card | KRIT1 |
| Uniprot ID | O00522 |
| Pfam | PF13857; PF00373; PF16705 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Low levels in brain. Very weak expression found in heart and muscle. {ECO:0000269|PubMed:9285558}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);0.085714(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3U7D (X-ray 2.49A ) 4DX8 (X-ray 2.54A ) 4DXA (X-ray 1.95A ) 4HDO (X-ray 1.67A ) 4HDQ (X-ray 1.95A ) 4JIF (X-ray 1.70A ) 4TKN (X-ray 3.00A ) 5D68 (X-ray 2.91A ) 6OQ3 (X-ray 1.85A ) 6OQ4 (X-ray 1.75A ) 6UZK (X-ray 1.92A ) |
| DBSNP | NA |
| Subcellular location [CC] | Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell junction. Note=KRIT1 and CDH5 reciprocally regulate their localization to endothelial cell-cell junctions. Association with RAP1 relocalizes KRIT1 from microtubules to cell junction membranes. Translocates from the cytoplasm along microtubules to the cell membrane in a ITGB1BP1-dependent manner. |
| Mouse PG classification | NA |
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