Browse KRIT1

Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
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.

> Gene Ontology
 
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 and Reactome Pathway
 
KEGG hsa04015 Rap1 signaling pathway
Reactome -
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
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.
> Text Mining
 

There is no record.

Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
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
  Statistical results of KRIT1 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell logFC: -3.08; FDR: 0.00700 Resistant to T cell-mediated killing
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
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
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of KRIT1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.0280.918
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.230.878
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.1210.916
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.150.703
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.5320.757
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.3340.88
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.0060.987
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.1050.948
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.1770.919
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.1690.889
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.6470.705
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.0210.678
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of KRIT1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27737.41.460.177
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27597.41.75.70.231
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21179.509.50.492
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.707.71
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.602.61
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16146.206.21
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
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.
> Lymphocyte
 
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
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
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
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
> Chemokine
 
> Receptor
 
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of KRIT1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between KRIT1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolKRIT1
NameKRIT1, ankyrin repeat containing
Aliases CCM1; cerebral cavernous malformations 1; ankyrin repeat-containing protein Krit1; cerebral cavernous malfor ......
Chromosomal Location7q21.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting KRIT1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.