Gene
krit1
- ID
- ZDB-GENE-030131-555
- Name
- KRIT1 ankyrin repeat containing
- Symbol
- krit1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including circulatory system development; endothelial cell morphogenesis; and negative regulation of endothelial cell differentiation. Predicted to be located in several cellular components, including anchoring junction; cytoplasm; and cytoskeleton. Predicted to be active in plasma membrane. Is expressed in head; notochord; post-vent region; vasculature; and ventricular zone. Used to study cerebral cavernous malformation 1. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63585 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 46 figures from 20 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| m775 | Allele with one point mutation | Intron 13 | Splicing Variant, Inframe Deletion | ENU | |
| s234 | unknown | Unknown | Unknown | ENU | |
| s610 | unknown | Unknown | Unknown | ENU | |
| sa44926 | Allele with one point mutation | Unknown | Unknown | ENU | |
| t26458 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| ty219c | Allele with one point mutation | Exon 15 | Premature Stop | ENU |
1 - 6 of 6
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-krit1 | N/A | (7) |
| MO2-krit1 | N/A | (6) |
| MO3-krit1 | N/A | Hogan et al., 2008 |
| MO4-krit1 | N/A | Zhou et al., 2015 |
1 - 4 of 4
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebral cavernous malformation 1 | Alliance | Cavernous malformations of CNS and retina | 116860 |
| cerebral cavernous malformation 1 | Alliance | Cerebral cavernous malformations-1 | 116860 |
| cerebral cavernous malformation 1 | Alliance | Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations | 116860 |
1 - 3 of 3
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cerebral cavernous malformation 1 | krit1ty219c/ty219c | control | Rödel et al., 2019 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Band 4.1 domain | FERM/acyl-CoA-binding protein superfamily | FERM central domain | FERM domain | FERM superfamily, second domain | Krev interaction trapped protein 1, FERM domain C-lobe | KRIT1/FRMD8 | KRIT, N-terminal NPxY motif-rich domain superfamily | KRIT, N-terminal NPxY motif-rich region | PH-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1REV3 | InterPro | 740 | ||||||||||||
| UniProtKB:A0A0R4IW01 | InterPro | 741 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:krit1-IRES-EGFP) |
| 1 | Donat et al., 2018 | ||
| Tg(UAS:EGFP-krit1,cryaa:EGFP) |
|
| 1 | (2) | |
| Tg(UAS:mCherry-krit1,cryaa:EGFP) |
| 1 | Rödel et al., 2019 |
1 - 3 of 3
Show
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-153F2 | ZFIN Curated Data | |
| Encodes | EST | fb36f07 | ||
| Encodes | cDNA | MGC:63585 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001317001 (1) | 2554 nt | ||
| Genomic | GenBank:CR855331 (1) | 165603 nt | ||
| Polypeptide | UniProtKB:A0A0R4IW01 (1) | 741 aa |
- Pham, V.C., Rödel, C.J., Valentino, M., Malinverno, M., Paolini, A., Münch, J., Pasquier, C., Onyeogaziri, F.C., Lazovic, B., Girard, R., Koskimäki, J., Hußmann, M., Keith, B., Jachimowicz, D., Kohl, F., Hagelkruys, A., Penninger, J.M., Schulte-Merker, S., Awad, I.A., Hicks, R., Magnusson, P.U., Faurobert, E., Pagani, M., Abdelilah-Seyfried, S. (2024) Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations. EMBO Molecular Medicine. 16(11):2827-2855
- Yin, J., Schellinx, N., Maggi, L., Gundel, K., Wiesner, C., Kotini, M.P., Lee, M., Phng, L.K., Belting, H.G., Affolter, M. (2024) Initiation of lumen formation from junctions via differential actomyosin contractility regulated by dynamic recruitment of Rasip1. Nature communications. 15:97149714
- Grdseloff, N., Boulday, G., Rödel, C.J., Otten, C., Vannier, D.R., Cardoso, C., Faurobert, E., Dogra, D., Tournier-Lasserve, E., Abdelilah-Seyfried, S. (2023) Impaired retinoic acid signaling in cerebral cavernous malformations. Scientific Reports. 13:55725572
- Hu, M., Liu, P., Lu, S., Wang, Z., Lyu, Z., Liu, H., Sun, Y., Liu, F., Tian, J. (2021) Myocardial protective effect and transcriptome profiling of Naoxintong on cardiomyopathy in zebrafish. Chinese Medicine. 16:119
- Lee, M., Betz, C., Yin, J., Paatero, I., Schellinx, N., Carte, A.N., Wilson, C.W., Ye, W., Affolter, M., Belting, H.G. (2021) Control of dynamic cell behaviors during angiogenesis and anastomosis by Rasip1. Development (Cambridge, England). 148(15):
- Chapman, E.M., Lant, B., Ohashi, Y., Yu, B., Schertzberg, M., Go, C., Dogra, D., Koskimäki, J., Girard, R., Li, Y., Fraser, A.G., Awad, I.A., Abdelilah-Seyfried, S., Gingras, A.C., Derry, W.B. (2019) A conserved CCM complex promotes apoptosis non-autonomously by regulating zinc homeostasis. Nature communications. 10:1791
- Kansara, K., Kumar, A., Karakoti, A.S. (2019) Combination of humic acid and clay reduce the ecotoxic effect of TiO2 NPs: A combined physico-chemical and genetic study using zebrafish embryo. The Science of the total environment. 698:134133
- Kansara, K., Paruthi, A., Misra, S.K., Karakoti, A.S., Kumar, A. (2019) Montmorillonite clay and humic acid modulate the behavior of copper oxide nanoparticles in aqueous environment and induces developmental defects in zebrafish embryo. Environmental pollution (Barking, Essex : 1987). 255:113313
- Rödel, C.J., Otten, C., Donat, S., Lourenco, M., Fischer, D., Kuropka, B., Paolini, A., Freund, C., Abdelilah-Seyfried, S. (2019) Blood Flow Suppresses Vascular Anomalies in a Zebrafish Model of Cerebral Cavernous Malformations. Circulation research. 125(10):e43-e54
- Donat, S., Lourenço, M., Paolini, A., Otten, C., Renz, M., Abdelilah-Seyfried, S. (2018) Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. eLIFE. 7:e28939
1 - 10 of 36
Show