Property Summary

NCBI Gene PubMed Count 90
Grant Count 1,324
R01 Count 849
Funding $136,004,111.12
PubMed Score 152.10
PubTator Score 174.55

Knowledge Summary

Patent

No data available

Expression

Gene

PDB

3U7D   4HDQ   4DXA   4HDO   4TKN   4DX8   4JIF   5D68  

Gene RIF (70)

PMID Text
26356566 Studies suggest that the 3 proteins of the Cerebral Cavernous Malformations (CCM) complex KRIT1/CCM1, CCM2/malcavernin and CCM3/PDCD10 not only require one another for reciprocal stabilization, but also act as a platform for signal transduction.
25923142 KRIT1 protects endothelial integrity during mechanical stress and trap6 exposure.
25707093 Genetic analysis of familial cerebral cavernous malformation in Japanese involved the KRIT1 gene.
25525273 Data find that several disease-associated missense mutations in CCM2 have the potential to interrupt the KRIT1-CCM2 interaction by destabilizing the CCM2 PTB domain and that a KRIT1 mutation also disrupts this interaction
25413039 Case Report: cerebral cavernous malformations and unilateral moyamoya disease in a patient with a new mutation in the KRIT-1 /CCM1 gene.
25320085 Data indicate the regulatioin of vascular endothelial growth factor (VEGF) signaling in Krev-interaction trapped 1 (KRIT1)-depleted endothelial cells.
25203678 Valproic acid reduces intracellular ROS level by the modulation of KRIT1 and its correlated proteins, FoxO1, SOD2, and cyclin D1 in mesenchymal stromal cells.
25185960 Novel CCM1 deletion mutation segregated with cerebral cavernous angioma in a Chinese family.
25086949 Our findings demonstrate that CCM1 c.263-10A > G mutation is associated with cerebral cavernous malformations.
25059659 Data indicate that the major binding site for binding of sorting nexin 17 (SNX17) is confined to the NPXF2 motif in cytoplasmic adaptor protein Krev interaction trapped 1 (KRIT1).
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AA Sequence

MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILD      1 - 70
YVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMR     71 - 140
VCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGY    141 - 210
SALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTE    211 - 280
DKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNL    281 - 350
LNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYE    351 - 420
KVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEI    421 - 490
LAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQ    491 - 560
IVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCW    561 - 630
EIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIH    631 - 700
SMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS                                      701 - 736
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Text Mined References (90)

PMID Year Title
26356566 2015 The cerebral cavernous malformations proteins.
25923142 2015 Role of Krev Interaction Trapped-1 in Prostacyclin-Induced Protection against Lung Vascular Permeability Induced by Excessive Mechanical Forces and Thrombin Receptor Activating Peptide 6.
25814554 2015 Phospho-tyrosine dependent protein-protein interaction network.
25707093 2014 A Japanese pedigree of familial cerebral cavernous malformations--a case report.
25525273 2015 Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
25413039 2014 Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.
25320085 2014 KRIT1 protein depletion modifies endothelial cell behavior via increased vascular endothelial growth factor (VEGF) signaling.
25203678 2015 Proteomic analysis reveals KRIT1 as a modulator for the antioxidant effects of valproic acid in human bone-marrow mesenchymal stromal cells.
25185960 2014 Familial cerebral cavernous angiomas: clinical and genetic features in a Chinese family with a frame-shift mutation in the CCM1 gene (krit1).
25086949 2014 A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.
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