Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 889
MIM: 604214
HGNC: 1573
Ensembl: ENSG00000001631
Variants:
dbSNP: 889
ClinVar: 889
TCGA: ENSG00000001631
COSMIC: KRIT1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Rap1 signaling pathway | KEGG | hsa04015 |
| Rap1 signaling pathway | KEGG | ko04015 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36892712 | 2023 | A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations. | 0 |
| 36892712 | 2023 | A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations. | 0 |
| 33443102 | 2021 | Protein kinase Cα regulates the nucleocytoplasmic shuttling of KRIT1. | 8 |
| 33604894 | 2021 | Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. | 1 |
| 33651268 | 2021 | KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants. | 5 |
| 34088891 | 2021 | Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1. | 49 |
| 33443102 | 2021 | Protein kinase Cα regulates the nucleocytoplasmic shuttling of KRIT1. | 8 |
| 33604894 | 2021 | Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. | 1 |
| 33651268 | 2021 | KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants. | 5 |
| 34088891 | 2021 | Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1. | 49 |
| 31446422 | 2020 | Postzygotic mosaicism in cerebral cavernous malformation. | 7 |
| 31937560 | 2020 | Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations. | 1 |
| 32100472 | 2020 | Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation. | 4 |
| 32186778 | 2020 | Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers. | 14 |
| 32735866 | 2020 | KRIT1 as a possible new player in melanoma aggressiveness. | 4 |
Citation
Dessen P
KRIT1 (KRIT1 ankyrin repeat containing)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/948/krit1
