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KANK1

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Astrocytes, Oligodendrocyte precursor cells, Late spermatids, Oligodendrocytes)

Immune cell specificity

Immune cell enhanced (plasmacytoid DC)

Cell line specificity

Cell line enhanced (Hep G2)

Interaction

Interacts with YWHAQ; the interaction requires KANK1 phosphorylation at Ser-325 and is enhanced by growth factor stimulation (PubMed:18458160). Interacts with YWHAB, YWHAG, YWHAE, YWHAH, YWHAZ and SFN; the interaction requires KANK1 phosphorylation at Ser-325 (PubMed:18458160). Interacts with ARFGEF1; however, colocalization cannot be experimentally confirmed (PubMed:22084092). Interacts with BAIAP2 (PubMed:19171758). Interacts (via ANK repeats 1-5) with KIF21A (via residues 1146-1167); KIF21A enhances translocation of KANK1 to the plasma membrane (PubMed:19559006, PubMed:29183992). Interacts with CTNNB1 (PubMed:16968744).

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