KANK1 Gene Summary [Human]
The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | KANK1 |
| Official Name | KN motif and ankyrin repeat domains 1 [Source:HGNC Symbol;Acc:HGNC:19309] |
| Ensembl ID | ENSG00000107104 |
| Bio databases IDs | |
| Aliases | KN motif and ankyrin repeat domains 1 |
| Synonyms | A930031B09RIK, ANKRD15, ANKYRIN REPEAT domain protein 15, AU015049, CPSQ2, D330024H06Rik, KANK, KIAA0172, KN motif and ankyrin repeat domains 1, LOC100505905, mKIAA0172 |
| 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 KANK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Ankyrin repeats (many copies)
- KN motif
- beta-catenin binding
- protein binding activity, bridging
- Ankyrin repeats (3 copies)
- protein binding
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- plasma cell myeloma
- epithelial cancer
- skin neoplasia
- acute myeloid leukemia
- uterine leiomyoma
- leiomyomatosis
- skin neoplasm
- migraines
- HER2 negative hormone receptor negative breast cancer
- spastic quadriplegic cerebral palsy type 2
role in cell
- proliferation
- organization
- migration
- morphogenesis
- development
- orientation
- orientation in
- assembly
- polymerization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cell cortex
- Plasma Membrane
- membrane ruffles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KANK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- regulation of Rho protein signal transduction
- negative regulation of Rho protein signal transduction
- positive regulation of wound healing
- negative regulation of lamellipodium morphogenesis
- negative regulation of substrate adhesion-dependent cell spreading
- positive regulation of canonical Wnt receptor signaling pathway
- negative regulation of ruffle assembly
- negative regulation of insulin receptor signaling pathway
- negative regulation of actin filament polymerization
- negative regulation of neuron projection development
- positive regulation of Wnt receptor signaling pathway
- actin cytoskeleton organization
- negative regulation of cell migration
- regulation of establishment of cell polarity
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoskeleton
- cytoplasm
- ruffle membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- beta-catenin binding