Aliases for KANK1 Gene
External Ids for KANK1 Gene
Previous HGNC Symbols for KANK1 Gene
Previous GeneCards Identifiers for KANK1 Gene
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]
GeneCards Summary for KANK1 Gene
KANK1 (KN Motif And Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with KANK1 include Cerebral Palsy, Spastic Quadriplegic, 2 and Inherited Congenital Spastic Tetraplegia. Gene Ontology (GO) annotations related to this gene include beta-catenin binding. An important paralog of this gene is KANK2.
UniProtKB/Swiss-Prot Summary for KANK1 Gene
Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457).