Type |
Details |
Score |
Publication |
First Author: |
McDonald DA |
Year: |
2011 |
Journal: |
Hum Mol Genet |
Title: |
A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. |
Volume: |
20 |
Issue: |
2 |
Pages: |
211-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li J |
Year: |
2020 |
Journal: |
PLoS Biol |
Title: |
Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice. |
Volume: |
18 |
Issue: |
6 |
Pages: |
e3000734 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lampugnani MG |
Year: |
2010 |
Journal: |
J Cell Sci |
Title: |
CCM1 regulates vascular-lumen organization by inducing endothelial polarity. |
Volume: |
123 |
Issue: |
Pt 7 |
Pages: |
1073-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Boulday G |
Year: |
2011 |
Journal: |
J Exp Med |
Title: |
Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice. |
Volume: |
208 |
Issue: |
9 |
Pages: |
1835-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang AT |
Year: |
2017 |
Journal: |
Nature |
Title: |
Endothelial TLR4 and the microbiome drive cerebral cavernous malformations. |
Volume: |
545 |
Issue: |
7654 |
Pages: |
305-310 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cuttano R |
Year: |
2016 |
Journal: |
EMBO Mol Med |
Title: |
KLF4 is a key determinant in the development and progression of cerebral cavernous malformations. |
Volume: |
8 |
Issue: |
1 |
Pages: |
6-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou Z |
Year: |
2016 |
Journal: |
Nature |
Title: |
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. |
Volume: |
532 |
Issue: |
7597 |
Pages: |
122-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
O'Hagan RC |
Year: |
2003 |
Journal: |
Cancer Res |
Title: |
Array comparative genome hybridization for tumor classification and gene discovery in mouse models of malignant melanoma. |
Volume: |
63 |
Issue: |
17 |
Pages: |
5352-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang AT |
Year: |
2019 |
Journal: |
Sci Transl Med |
Title: |
Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation. |
Volume: |
11 |
Issue: |
520 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou Z |
Year: |
2015 |
Journal: |
Dev Cell |
Title: |
The cerebral cavernous malformation pathway controls cardiac development via regulation of endocardial MEKK3 signaling and KLF expression. |
Volume: |
32 |
Issue: |
2 |
Pages: |
168-80 |
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•
•
•
•
•
|
Publication |
First Author: |
Ren AA |
Year: |
2021 |
Journal: |
Nature |
Title: |
PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. |
Volume: |
594 |
Issue: |
7862 |
Pages: |
271-276 |
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•
•
•
•
•
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Publication |
First Author: |
Han R |
Year: |
2015 |
Journal: |
Organogenesis |
Title: |
Endothelial Erg expression is required for embryogenesis and vascular integrity. |
Volume: |
11 |
Issue: |
2 |
Pages: |
75-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chan AC |
Year: |
2011 |
Journal: |
J Clin Invest |
Title: |
Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice. |
Volume: |
121 |
Issue: |
5 |
Pages: |
1871-81 |
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•
•
•
•
•
|
Publication |
First Author: |
Wang R |
Year: |
2021 |
Journal: |
JCI Insight |
Title: |
Pdcd10-Stk24/25 complex controls kidney water reabsorption by regulating Aqp2 membrane targeting. |
Volume: |
6 |
Issue: |
12 |
|
|
•
•
•
•
•
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Publication |
First Author: |
Faurobert E |
Year: |
2013 |
Journal: |
J Cell Biol |
Title: |
CCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodeling. |
Volume: |
202 |
Issue: |
3 |
Pages: |
545-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zheng X |
Year: |
2012 |
Journal: |
Dev Cell |
Title: |
Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. |
Volume: |
23 |
Issue: |
2 |
Pages: |
342-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
He Y |
Year: |
2010 |
Journal: |
Sci Signal |
Title: |
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. |
Volume: |
3 |
Issue: |
116 |
Pages: |
ra26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hu X |
Year: |
2016 |
Journal: |
Sci Rep |
Title: |
Phosphoinositide 3-Kinase (PI3K) Subunit p110δ Is Essential for Trophoblast Cell Differentiation and Placental Development in Mouse. |
Volume: |
6 |
|
Pages: |
28201 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tkatchenko TV |
Year: |
2009 |
Journal: |
Physiol Genomics |
Title: |
Lack of periostin leads to suppression of Notch1 signaling and calcific aortic valve disease. |
Volume: |
39 |
Issue: |
3 |
Pages: |
160-8 |
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•
•
•
•
•
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Publication |
First Author: |
Dickinson ME |
Year: |
2016 |
Journal: |
Nature |
Title: |
High-throughput discovery of novel developmental phenotypes. |
Volume: |
537 |
Issue: |
7621 |
Pages: |
508-514 |
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Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
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•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
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•
•
•
•
•
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Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
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•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
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•
•
•
•
•
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Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
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•
•
•
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•
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Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
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•
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Publication |
First Author: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
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Title: |
MGI Sequence Curation Reference |
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Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
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•
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Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
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•
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•
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Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
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Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
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Title: |
Nomenclature Committee Use |
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•
•
•
•
•
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Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
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Title: |
Cyagen Biosciences Website. |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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•
•
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•
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Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
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•
•
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Publication |
First Author: |
GOA curators |
Year: |
2016 |
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Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
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•
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
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•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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•
•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
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•
•
•
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•
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Publication |
First Author: |
Liu W |
Year: |
2013 |
Journal: |
Mol Cell |
Title: |
Mechanism for KRIT1 release of ICAP1-mediated suppression of integrin activation. |
Volume: |
49 |
Issue: |
4 |
Pages: |
719-29 |
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•
•
•
•
•
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DO Term |
|
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•
•
•
•
|
Publication |
First Author: |
Kehrer-Sawatzki H |
Year: |
2002 |
Journal: |
Acta Neuropathol |
Title: |
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). |
Volume: |
104 |
Issue: |
3 |
Pages: |
231-40 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This domain is found in higher eukaryotes at the N terminus of KRIT1 or Krev interaction trapped proteins. KRIT1 is a 736 amino acid protein that contains three regions, an N-terminal NPxY motif-rich region, an ankyrin repeat domain (ARD) and a band four-point-one, ezrin, radixin, moesin (FERM) domain. The N-terminal region of KRIT1 contains three NPxY-like motifs and can bind ICAP1 (integrin cytoplasmic-associated protein 1 (ICAP1). In the absence of KRIT1, ICAP1 binds via its C-terminal PH/PTB fold domain to the integrin beta-1 cytoplasmic tail. Binding of KRIT1 to ICAP1 via this domain out-competes the binding of ICAP1 to integrin cytoplasmic tails such that ICAP1 is sequestered in the nucleus. Integrin activation is thus prevented. KRIT1 does not include the canonical "Nudix box"motif or other Nudix motifs but does, however, very clearly adopt a Nudix fold with a central β-sheet flanked by two α-helices []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
This domain is found in higher eukaryotes at the N terminus of KRIT1 or Krev interaction trapped proteins. KRIT1 is a 736 amino acid protein that contains three regions, an N-terminal NPxY motif-rich region, an ankyrin repeat domain (ARD) and a band four-point-one, ezrin, radixin, moesin (FERM) domain. The N-terminal region of KRIT1 contains three NPxY-like motifs and can bind ICAP1 (integrin cytoplasmic-associated protein 1 (ICAP1). In the absence of KRIT1, ICAP1 binds via its C-terminal PH/PTB fold domain to the integrin beta-1 cytoplasmic tail. Binding of KRIT1 to ICAP1 via this domain out-competes the binding of ICAP1 to integrin cytoplasmic tails such that ICAP1 is sequestered in the nucleus. Integrin activation is thus prevented. KRIT1 does not include the canonical "Nudix box"motif or other Nudix motifs but does, however, very clearly adopt a Nudix fold with a central β-sheet flanked by two α-helices []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
132
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Publication |
First Author: |
Glading A |
Year: |
2007 |
Journal: |
J Cell Biol |
Title: |
KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions. |
Volume: |
179 |
Issue: |
2 |
Pages: |
247-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li X |
Year: |
2012 |
Journal: |
J Biol Chem |
Title: |
Structural basis for small G protein effector interaction of Ras-related protein 1 (Rap1) and adaptor protein Krev interaction trapped 1 (KRIT1). |
Volume: |
287 |
Issue: |
26 |
Pages: |
22317-27 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
KRIT1, also known as CCM1, a Rap1-binding protein, is expressed in endothelial cells where it is present in cell-cell junctions and associated with junctional proteins []. Together with CCM2/MGC4607 and CCM3/PDCD10, KRIT1 constitutes a set of proteins, mutations of which are found in cerebral cavernous malformations which are characterized by cerebral hemorrhages and vascular malformations in the central nervous system. KRIT-1 possesses four ankyrin repeats, a FERM domain, and multiple NPXY sequences, one of which is essential for integrin cytoplasmic domain-associated protein-1alpha (ICAP1alpha) binding and all of which mediate binding of CCM2. KRIT-1 localization is mediated by its FERM domain [].The FERM domain has a cloverleaf tripart structure composed of: (1) FERM_N (A-lobe or F1); (2) FERM_M (B-lobe, or F2); and (3) FERM_C (C-lobe or F3). The C-lobe/F3 within the FERM domain is part of the PH domain family. Like most other ERM members they have a phosphoinositide-binding site in their FERM domain. The FERM C domain is the third structural domain within the FERM domain. The FERM domain is found in the cytoskeletal-associated proteins such as ezrin, moesin, radixin, 4.1R, and merlin. These proteins provide a link between the membrane and cytoskeleton and are involved in signal transduction pathways. The FERM domain is also found in protein tyrosine phosphatases (PTPs) , the tyrosine kinases FAK and JAK, in addition to other proteins involved in signaling. This domain is structurally similar to the PH and PTB domains and consequently is capable of binding to both peptides and phospholipids at different sites [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Shenkar R |
Year: |
2015 |
Journal: |
Genet Med |
Title: |
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. |
Volume: |
17 |
Issue: |
3 |
Pages: |
188-196 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jenny Zhou H |
Year: |
2016 |
Journal: |
Nat Med |
Title: |
Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. |
Volume: |
22 |
Issue: |
9 |
Pages: |
1033-1042 |
|
•
•
•
•
•
|
Publication |
First Author: |
Grdseloff N |
Year: |
2023 |
Journal: |
Sci Rep |
Title: |
Impaired retinoic acid signaling in cerebral cavernous malformations. |
Volume: |
13 |
Issue: |
1 |
Pages: |
5572 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
736
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
736
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Marchi S |
Year: |
2015 |
Journal: |
EMBO Mol Med |
Title: |
Defective autophagy is a key feature of cerebral cavernous malformations. |
Volume: |
7 |
Issue: |
11 |
Pages: |
1403-17 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
647
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Kitano K |
Year: |
2006 |
Journal: |
Acta Crystallogr Sect F Struct Biol Cryst Commun |
Title: |
Structure of dimerized radixin FERM domain suggests a novel masking motif in C-terminal residues 295-304. |
Volume: |
62 |
Issue: |
Pt 4 |
Pages: |
340-5 |
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Publication |
First Author: |
Tepass U |
Year: |
2009 |
Journal: |
Curr Opin Genet Dev |
Title: |
FERM proteins in animal morphogenesis. |
Volume: |
19 |
Issue: |
4 |
Pages: |
357-67 |
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Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
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