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KN motif and ankyrin repeat domains 1

Kank1, KANK, ANKRD15, ankyrin repeat domain 15, KIAA0172
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 pseuodgene has been identified on chromosome 20. [provided by RefSeq, Mar 2012] (from NCBI)
Top mentioned proteins: Actin, XRCC1, CAN, CYP1A1, p27
Papers on Kank1
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Hildebrandt et al., In J Clin Invest, Jun 2015
Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome.
Kank1 reexpression induced by 5-Aza-2'-deoxycytidine suppresses nasopharyngeal carcinoma cell proliferation and promotes apoptosis.
Tang et al., Changsha, China. In Int J Clin Exp Pathol, 2014
Kank1, which was first described as a potential tumor suppressor for renal cell carcinoma (RCC), mapped to 9p24.3 and encoded an ankyrin-repeat domain-containing protein.
Upregulation of the Kank1 gene-induced brain glioma apoptosis and blockade of the cell cycle in G0/G1 phase.
Ma et al., Changchun, China. In Int J Oncol, 2014
The Kank1 gene is one of the important members of the Kank gene family.
Kank Is an EB1 interacting protein that localises to muscle-tendon attachment sites in Drosophila.
Ohkura et al., Edinburgh, United Kingdom. In Plos One, 2013
We report the identification of Kank, the sole Drosophila orthologue of human Kank proteins, as an EB1 interactor that predominantly localises to embryonic attachment sites between muscle and tendon cells.
Development of pathological diagnostics of human kidney cancer by multiple staining using new fluorescent Fluolid dyes.
Kiyama et al., Tsukuba, Japan. In Biomed Res Int, 2013
Here, we performed simultaneous immunostaining of renal tumors, clear cell renal cell carcinoma (RCC), papillary RCC, chromophobe RCC, acquired cystic disease-associated RCC (ACD-RCC), and renal angiomyolipoma (AML), with primary antibodies against Kank1, cytokeratin 7 (CK7), and CD10, which were detected with secondary antibodies labeled with Fluolid-Orange, Fluolid-Green, and Alexa Fluor 647, respectively.
Familial KANK1 deletion that does not follow expected imprinting pattern.
South et al., Salt Lake City, United States. In Eur J Med Genet, 2013
Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3,
Pure distal 9p deletion in a female infant with cerebral palsy.
Wang et al., Taipei, Taiwan. In Genet Couns, 2011
ANKRD15 encodes the kidney ankyrin repeat-containing protein.
Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing.
Vaughan et al., Bethesda, United States. In Proc Natl Acad Sci U S A, 2011
BIG1 and KANK1 play roles in regulating cell polarity during directed migration in wound healing.
Application of Fluolid-Orange-labeled probes for DNA microarray and immunological assays.
Kiyama et al., Tsukuba, Japan. In Biotechnol Lett, 2011
Statistical analyses were performed to evaluate the reproducibility of the microarray assay, while stage-specific immunostaining of marker proteins, Kank1 and calretinin, was performed for renal cancers, both giving satisfactory results.
Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.
Wang et al., Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2011
The distal 9p deletion encompassed the genes of DOCK8, ANKRD15, FOXD4, DMRT1, and DMRT3.
KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia.
Demoulin et al., In Leukemia, 2010
KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia.
A catalog of genes homozygously deleted in human lung cancer and the candidacy of PTPRD as a tumor suppressor gene.
Yokota et al., Tokyo, Japan. In Genes Chromosomes Cancer, 2010
Microarray-based expression profiling of 19 lung cancer cell lines also indicated that some of the 176 genes, such as KANK and ADAMTS1, are preferentially inactivated by epigenetic alterations.
A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.
Kiyama et al., Tsukuba, Japan. In Biochem Biophys Res Commun, 2009
These results suggest that KIF21A regulates the distribution of Kank1 and that KIF21A mutations associated with congenital fibrosis of the extraocular muscles type 1 enhanced the accumulation of Kank1 in the membrane fraction.
Kank proteins: structure, functions and diseases.
Kiyama et al., Tsukuba, Japan. In Cell Mol Life Sci, 2009
The Kank family of proteins, Kank1-Kank4, are characterized by their unique structure, coiled-coil motifs in the N-terminal region, and ankyrin-repeats in the C-terminal region, with an additional motif, the KN motif, at the N-terminus.
Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3K-Akt signaling.
Kiyama et al., Tsukuba, Japan. In J Cell Biol, 2008
Data suggest that Kank negatively regulates the formation of actin stress fibers and cell migration through the inhibition of RhoA activity, which is controlled by binding of Kank to 14-3-3 in PI3K-Akt signaling.
Kank proteins: a new family of ankyrin-repeat domain-containing proteins.
Kiyama et al., Tsukuba, Japan. In Biochim Biophys Acta, 2008
Here, we report a new family of proteins consisting of three Kank (Kank1)-associated members, Kank2, Kank3 and Kank4, which were found by domain and phylogenetic analyses.
Differential expression of vitreous proteins in proliferative diabetic retinopathy.
Kim et al., Seoul, South Korea. In Curr Eye Res, 2006
Eight proteins (pigmented epithelium derived factor, serine protease inhibitor, apolipoprotein A-IV precursor, prostaglandin-H2 D-isomerase, a(1)-antitrypsin precursor, ankyrin repeat domain 15 protein, alpha2-HS-glycoprotein, and beta V spectrin) in the 25 spots were expressed significantly differently between the macular hole and proliferative diabetic retinopathy patients (p value < 0.05).
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
Abeliovich et al., Jerusalem, Israel. In Hum Mol Genet, 2006
The deletion spans a single gene, ANKRD15 (ankyrin repeat domain 15), which is ubiquitously expressed.
Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2.
Skoda et al., Basel, Switzerland. In Blood, 2005
We identified 13 new gene expression markers that were elevated and one marker, ANKRD15, that was down-regulated in patients with polycythemia vera (PV).
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