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
- Involved in several processes, including circulatory system development; endothelial cell morphogenesis; and negative regulation of endothelial cell differentiation. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Is expressed in head; notochord; post-vent region; posterior cardinal vein; and ventricular zone. 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
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cerebral cavernous malformation 1 | krit1ty219c/ty219c | control | Rödel et al., 2019 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000299 | FERM domain |
| Domain | IPR019748 | FERM central domain |
| Domain | IPR019749 | Band 4.1 domain |
| Domain | IPR032022 | KRIT, N-terminal NPxY motif-rich region |
| Domain | IPR041791 | Krev interaction trapped protein 1, FERM domain C-lobe |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR014352 | FERM/acyl-CoA-binding protein superfamily |
| Homologous_superfamily | IPR035963 | FERM superfamily, second domain |
| Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
| Homologous_superfamily | IPR043058 | KRIT, N-terminal NPxY motif-rich domain superfamily |
| Repeat | IPR002110 | Ankyrin repeat |
Domain Details Per Protein
| Protein | 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 | KRIT, N-terminal NPxY motif-rich domain superfamily | KRIT, N-terminal NPxY motif-rich region | PH-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1REV3
|
740 | |||||||||||
|
UniProtKB:A0A0R4IW01
|
741 |
Interactions and Pathways
No data available
Plasmids
No data available