KRIT1 Gene Summary [Human]
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | KRIT1 |
| Official Name | KRIT1 ankyrin repeat containing [Source:HGNC Symbol;Acc:HGNC:1573] |
| Ensembl ID | ENSG00000001631 |
| Bio databases IDs | |
| Aliases | KRIT1 ankyrin repeat containing, Krev interaction trapped 1 |
| Synonyms | 2010007K12Rik, A630036P20RIK, CAM, CCM1, KRIT1 ankyrin repeat containing, KRIT1, ankyrin repeat containing, RGD1305929 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KRIT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FERM central domain
- Band 4.1 homologues
- Ankyrin repeats (many copies)
- GTPase regulator
- Ankyrin repeats (3 copies)
- protein binding
- Pleckstrin homology-like domain
- FERM subdomain f1
- FERM subdomain f3
- microtubule binding
- FERM domain
- FERM subdomain f2
- NPXY motif
- phosphatidylinositol-4,5-bisphosphate binding
- FERM domain B-lobe
- NUDIX, or N-terminal NPxY motif-rich, region of KRIT
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cerebral cavernous malformation
- cerebral cavernous malformations 1
- familial cerebral cavernous malformation
- hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
- breast carcinoma
- hereditary disorder
- cavernous malformations of CNS and retina
- bleeding
role in cell
- expression in
- activation in
- phosphorylation in
- proliferation
- interaction in
- stabilization
- endothelial mesenchymal transition
- loss
- migration by
- tubulation by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- intercellular junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KRIT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- angiogenesis
- small GTPase mediated signal transduction
- regulation of angiogenesis
- cell redox homeostasis
- negative regulation of endothelial cell proliferation
- negative regulation of endothelial cell apoptotic process
- negative regulation of endothelial cell migration
- endothelium development
- regulation of establishment of cell polarity
- integrin activation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoskeleton
- cell-cell junction
- cytoplasm
- macromolecular complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- GTPase regulator activity
- microtubule binding