Summary | |
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Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | 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. |
Domain |
PF00373 FERM central domain PF16705 NUDIX |
Function |
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. |
Biological Process |
GO:0001525 angiogenesis GO:0001667 ameboidal-type cell migration GO:0001935 endothelial cell proliferation GO:0001936 regulation of endothelial cell proliferation GO:0001937 negative regulation of endothelial cell proliferation GO:0007163 establishment or maintenance of cell polarity GO:0010594 regulation of endothelial cell migration GO:0010596 negative regulation of endothelial cell migration GO:0010631 epithelial cell migration GO:0010632 regulation of epithelial cell migration GO:0010633 negative regulation of epithelial cell migration GO:0016525 negative regulation of angiogenesis GO:0030010 establishment of cell polarity GO:0030336 negative regulation of cell migration GO:0032092 positive regulation of protein binding GO:0032878 regulation of establishment or maintenance of cell polarity GO:0040013 negative regulation of locomotion GO:0043393 regulation of protein binding GO:0043542 endothelial cell migration GO:0045454 cell redox homeostasis GO:0045765 regulation of angiogenesis GO:0048514 blood vessel morphogenesis GO:0050673 epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation GO:0050680 negative regulation of epithelial cell proliferation GO:0051098 regulation of binding GO:0051099 positive regulation of binding GO:0051271 negative regulation of cellular component movement GO:0072577 endothelial cell apoptotic process GO:0090130 tissue migration GO:0090132 epithelium migration GO:1901342 regulation of vasculature development GO:1901343 negative regulation of vasculature development GO:1904019 epithelial cell apoptotic process GO:1904035 regulation of epithelial cell apoptotic process GO:1904036 negative regulation of epithelial cell apoptotic process GO:2000114 regulation of establishment of cell polarity GO:2000146 negative regulation of cell motility GO:2000181 negative regulation of blood vessel morphogenesis GO:2000351 regulation of endothelial cell apoptotic process GO:2000352 negative regulation of endothelial cell apoptotic process |
Molecular Function |
GO:0005543 phospholipid binding GO:0005546 phosphatidylinositol-4,5-bisphosphate binding GO:0008017 microtubule binding GO:0015631 tubulin binding GO:0030695 GTPase regulator activity GO:0035091 phosphatidylinositol binding GO:0060589 nucleoside-triphosphatase regulator activity GO:1901981 phosphatidylinositol phosphate binding GO:1902936 phosphatidylinositol bisphosphate binding |
Cellular Component |
GO:0005874 microtubule |
KEGG |
hsa04015 Rap1 signaling pathway |
Reactome | - |
Summary | |
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Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between KRIT1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of KRIT1 in screening data sets for detecting immune reponses.
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Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of KRIT1 in various data sets.
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Points in the above scatter plot represent the mutation difference of KRIT1 in various data sets.
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Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of KRIT1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of KRIT1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by KRIT1. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of KRIT1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of KRIT1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between KRIT1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | KRIT1 |
Name | KRIT1, ankyrin repeat containing |
Aliases | CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ...... |
Chromosomal Location | 7q21.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting KRIT1 collected from DrugBank database. |
There is no record. |