Human CCM-1
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| Cat-Nr. | 300-054 |
| Size | 20 µg |
| Price | 120 € |
| Source | E. coli |
| Label | His-Tag |
| Formulation | lyophilized |
| Purity Confirmation | > 90% by SDS-PAGE |
| Length [aa] | 335 |
| Molecular Weight | 39 kDa |
| Biological Activity | Data not available. |
| Species Reactivity | Human |
| Buffer | 30mM NaCl. 50 mM NaP, pH 7.4 |
| Reconstitution | Human CCM1 should be reconstituted in water or other buffer solutions and stored at -20°C. |
| Stability and Storage | The lyophilized human CCM1, though stable at room temperature, is best stored desiccated below 0°C. |
| Synonyms | CCM-1; Cerebral cavernous malformations protein 1; KRIT1; KRIT1, ankyrin repeat containing; CAM |
| Description | Cerebral cavernous malformations (CCM) are frequent vascular abnormalities caused by mutations in one of the CCM genes. CCM-1 (also known as KRIT1) stabilizes endothelial junctions and is essential for vascular morphogenesis in mouse embryos. However, cellular functions of CCM-1 during the early steps of the CCM pathogenesis remain unknown. It was shown that CCM-1 represents an antiangiogenic protein to keep the human endothelium quiescent. CCM-1 inhibits endothelial proliferation, apoptosis, migration, lumen formation, and sprouting angiogenesis in primary human endothelial cells. CCM-1 strongly induces DLL4-NOTCH signaling, which promotes AKT phosphorylation but reduces phosphorylation of the mitogen-activated protein kinase ERK. Consistently, blocking of NOTCH activity alleviates CCM-1 effects. ERK phosphorylation is increased in human CCM lesions. Transplantation of CCM-1-silenced human endothelial cells into SCID mice recapitulates hallmarks of the CCM pathology and serves as a unique CCM model system. |
| Protein Sequence | MLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNSLEHHHHH |
| Uniprot ID | O00522 |
| Protein RefSeq | NP_004903.2 |
| mRNA RefSeq | NM_004912.3 |
Figures
SDS-PAGE analysis of recombinant human CCM1 “FERM domain”. Sample was loaded in 15% SDS-polyacrylamide gel under reducing conditions and stained with Coomassie blue.
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