KANK1

Summary

Gene Symbol: KANK1
Description: KN motif and ankyrin repeat domains 1
Alias: ANKRD15, CPSQ2, KANK, KN motif and ankyrin repeat domain-containing protein 1, ankyrin repeat domain-containing protein 15, kidney ankyrin repeat-containing protein
Species: human
Products:     KANK1

Top Publications

  1. Sarkar S, Roy B, Hatano N, Aoyagi T, Gohji K, Kiyama R. A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. J Biol Chem. 2002;277:36585-91 pubmed
    ..of 165 kb was identified and found to harbor a new potential tumor suppressor gene for renal cell carcinoma, the Kank gene. Kank (for kidney ankyrin repeat-containing protein) contains four ankyrin repeats at its C terminus...
  2. Roy B, Aoyagi T, Sarkar S, Nomura K, Kanda H, Iwaya K, et al. Pathological characterization of Kank in renal cell carcinoma. Exp Mol Pathol. 2005;78:41-8 pubmed
    The Kank gene was found as a candidate tumor suppressor gene at 9p24 by loss-of-heterozygosity search in renal cell carcinoma (RCC) and seems to have a role in controlling the formation of the cytoskeleton through the polymerization of ..
  3. Kakinuma N, Roy B, Zhu Y, Wang Y, Kiyama R. Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3K-Akt signaling. J Cell Biol. 2008;181:537-49 pubmed publisher
    ..Here, we find that Kank is an Akt substrate located downstream of PI3K and a 14-3-3-binding protein...
  4. Wallis M, Boys A, Tassano E, Delatycki M. Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants. Eur J Med Genet. 2019;: pubmed publisher
    A small heterozygous deletion involving KANK1 was originally reported in 2005 to cause cerebral palsy in one large Israeli family of Jewish Moroccan origin...
  5. Huyghe J, Jackson A, Fogarty M, Buchkovich M, Stancakova A, Stringham H, et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet. 2013;45:197-201 pubmed publisher
    ..three new genes with low-frequency variants associated with fasting proinsulin or insulinogenic index: TBC1D30, KANK1 and PAM...
  6. Vanzo R, Twede H, Ho K, Prasad A, Martin M, South S, et al. Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders. Eur J Med Genet. 2019;62:15-20 pubmed publisher
    Copy number variants (CNV)s involving KANK1 are generally classified as variants of unknown significance. Several clinical case reports suggest that the loss of KANK1 on chromosome 9p24.3 has potential impact on neurodevelopment...
  7. Chen N, Sun Z, Fassler R. The Kank family proteins in adhesion dynamics. Curr Opin Cell Biol. 2018;54:130-136 pubmed publisher
    ..The evolutionarily conserved Kank family proteins have emerged as regulators of adhesion dynamics by coordinating integrin-mediated force ..
  8. Clohisey S, Dzhindzhev N, Ohkura H. Kank Is an EB1 interacting protein that localises to muscle-tendon attachment sites in Drosophila. PLoS ONE. 2014;9:e106112 pubmed publisher
    ..Human Kank1 was identified as a tumour suppressor and has documented roles in actin regulation and cell polarity in cultured ..
  9. Kruer M, Jepperson T, Dutta S, Steiner R, Cottenie E, Sanford L, et al. Mutations in γ adducin are associated with inherited cerebral palsy. Ann Neurol. 2013;74:805-14 pubmed publisher
    ..Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the ..

More Information

Publications47

  1. Catic A, Kurtovic Kozaric A, Johnson S, Vasmatzis G, Pins M, Kogan J. A novel cytogenetic and molecular characterization of renal metanephric adenoma: Identification of partner genes involved in translocation t(9;15)(p24;q24). Cancer Genet. 2017;214-215:9-15 pubmed publisher
    ..However, the potential role of the KANK1 gene, which lies near the breakpoint of the short arm of chromosome 9p24, in the etiology of MA was not examined...
  2. Sun Z, Tseng H, Tan S, Senger F, Kurzawa L, Dedden D, et al. Kank2 activates talin, reduces force transduction across integrins and induces central adhesion formation. Nat Cell Biol. 2016;18:941-53 pubmed publisher
    ..Here we identify the evolutionarily conserved Kank protein family as novel components of focal adhesions (FAs)...
  3. Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, et al. Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits. Eur J Med Genet. 2016;59:20-5 pubmed publisher
    ..Here we report on two patients with similar inherited interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes...
  4. Hensley M, Cui Z, Chua R, Simpson S, Shammas N, Yang J, et al. Evolutionary and developmental analysis reveals KANK genes were co-opted for vertebrate vascular development. Sci Rep. 2016;6:27816 pubmed publisher
    ..First, we analyzed the molecular evolution of the KANK genes in metazoan, and found that KANK1, KANK2, KANK3 and KANK4 emerged in the lineage of vertebrate, consistent with the two rounds of vertebrate whole-..
  5. Cui Z, Shen Y, Chen K, Mittal S, Yang J, Zhang G. KANK1 inhibits cell growth by inducing apoptosis though regulating CXXC5 in human malignant peripheral nerve sheath tumors. Sci Rep. 2017;7:40325 pubmed publisher
    ..Through comparative oncogenomics, we have found that KANK1 was a candidate tumor suppressor gene (TSG) for human MPNSTs...
  6. Glessner J, Li J, Wang D, March M, Lima L, Desai A, et al. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Genome Med. 2017;9:106 pubmed publisher
    ..In addition, we identified novel significant associations of DOCK8/KANK1 duplications (meta P value?=?7...
  7. Chen C, Lin C, Chern S, Wu P, Chen Y, Chen S, et al. Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication. Taiwan J Obstet Gynecol. 2016;55:596-601 pubmed publisher
    ..593 Mb deletion of 9p24.3-p24.2 encompassing DOCK8, KANK1, DMRT1, and VLDLR and a 16.65 Mb duplication of 14q32.11-q32.33 encompassing DLK1, RTL1, MEG3, RTL1as, and MEG8...
  8. Kubota N, Yokoyama T, Hoshi N, Suyama M. Identification of a candidate enhancer for DMRT3 involved in spastic cerebral palsy pathogenesis. Biochem Biophys Res Commun. 2018;496:133-139 pubmed publisher
    ..Here we focused on two clinical reports that characterized a deletion involving the KANK1 gene locus in the 9p24.3 region. One report shows spastic CP and the other shows no spastic CP phenotype...
  9. Klein K, Pendziwiat M, Cohen R, Appenzeller S, de Kovel C, Rosenow F, et al. Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia. J Neurol. 2016;263:11-6 pubmed publisher
    ..We performed linkage analysis and exome sequencing. LGI1, KANK1 and RELN were Sanger sequenced. Seizure semiology of 11 individuals was consistent with ADEAF...
  10. Ni X, Sun Z, Gu Y, Cui H, Xia H. Assembly of a novel biosynthetic pathway for gentamicin B production in Micromonospora echinospora. Microb Cell Fact. 2016;15:1 pubmed publisher
    ..echinospora ∆P. The enzymes KanJ and KanK necessary to convert 2'-NH2 into 2'-OH from the kanamycin biosynthetic pathway were heterologously expressed in M...
  11. Roy B, Kakinuma N, Kiyama R. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. J Cell Biol. 2009;184:253-67 pubmed publisher
    In this study, insulin receptor substrate (IRS) p53 is identified as a binding partner for Kank, a kidney ankyrin repeat-containing protein that functions to suppress cell proliferation and regulate the actin cytoskeleton...
  12. Vanzo R, Martin M, Sdano M, South S. Familial KANK1 deletion that does not follow expected imprinting pattern. Eur J Med Genet. 2013;56:256-9 pubmed publisher
    Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24...
  13. Medves S, Duhoux F, Ferrant A, Toffalini F, Ameye G, Libouton J, et al. KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia. Leukemia. 2010;24:1052-5 pubmed publisher
  14. Suzuki J, Roy B, Ogaeri T, Kakinuma N, Kiyama R. Depletion of tumor suppressor Kank1 induces centrosomal amplification via hyperactivation of RhoA. Exp Cell Res. 2017;353:79-87 pubmed publisher
    ..We found that knockdown of a tumor suppressor protein Kank1 increases the number of cells with a micronucleus or bi-/multi-nuclei, which was likely caused by centrosomal ..
  15. Gee H, Zhang F, Ashraf S, Kohl S, Sadowski C, Vega Warner V, et al. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015;125:2375-84 pubmed publisher
    ..and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome...
  16. Kakinuma N, Zhu Y, Wang Y, Roy B, Kiyama R. Kank proteins: structure, functions and diseases. Cell Mol Life Sci. 2009;66:2651-9 pubmed publisher
    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...
  17. Kim I, Kang J, Gee H, Park J. A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma. Cell Biol Int. 2017;: pubmed publisher
    The KN motif and ankyrin repeat domain-containing protein (KANK) family is involved in actin cytoskeleton organization and cell motility. Compared with other KANK members, the biological function of KANK3 is not clear...
  18. Guo Q, Liao S, Zhu Z, Li Y, Li F, Xu C. Structural basis for the recognition of kinesin family member 21A (KIF21A) by the ankyrin domains of KANK1 and KANK2 proteins. J Biol Chem. 2018;293:557-566 pubmed publisher
    ..KN motif and ankyrin repeat domain-containing protein 1 (KANK1), a member of KANK family, recruits kinesin family member 21A (KIF21A) to the cell cortex to control microtubule ..
  19. Wang Y, Onishi Y, Kakinuma N, Roy B, Aoyagi T, Kiyama R. Alternative splicing of the human Kank gene produces two types of Kank protein. Biochem Biophys Res Commun. 2005;330:1247-53 pubmed
    The human Kank gene encodes an ankyrin repeat domain-containing protein which regulates actin polymerization. There are at least two types of Kank protein depending on cell type, likely due to differences in transcription...
  20. Jensen M, Girirajan S. Mapping a shared genetic basis for neurodevelopmental disorders. Genome Med. 2017;9:109 pubmed publisher
    ..3 duplication encompassing DOCK8 and KANK1 in affected individuals...
  21. Bouchet B, Gough R, Ammon Y, van de Willige D, Post H, Jacquemet G, et al. Talin-KANK1 interaction controls the recruitment of cortical microtubule stabilizing complexes to focal adhesions. elife. 2016;5: pubmed publisher
    ..sites containing CLASPs, KIF21A, LL5β and liprins are recruited to focal adhesions by the adaptor protein KANK1, which directly interacts with the major adhesion component, talin...
  22. Luo F, Xiao S, Liu Z, Zhang P, Xiao Z, Tang C. Kank1 reexpression induced by 5-Aza-2'-deoxycytidine suppresses nasopharyngeal carcinoma cell proliferation and promotes apoptosis. Int J Clin Exp Pathol. 2015;8:1658-65 pubmed
    b>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...
  23. Guo X, Fan W, Bian X, Ma D. Upregulation of the Kank1 gene-induced brain glioma apoptosis and blockade of the cell cycle in G0/G1 phase. Int J Oncol. 2014;44:797-804 pubmed publisher
    The Kank1 gene is one of the important members of the Kank gene family. As an important adaptor protein, Kank1 plays a significant role in the genesis and development of many malignant tumors...
  24. Kakinuma N, Kiyama R. A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. Biochem Biophys Res Commun. 2009;386:639-44 pubmed publisher
    ..b>Kank1, which regulates actin polymerization, cell migration and neurite outgrowth, interacted with the third and fourth ..
  25. Li C, Kuo J, Waterman C, Kiyama R, Moss J, Vaughan M. Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing. Proc Natl Acad Sci U S A. 2011;108:19228-33 pubmed publisher
    ..Because KANK1, a protein containing N-terminal KN, C-terminal ankyrin-repeat, and intervening coiled-coil domains, has multiple ..
  26. Luo M, Mengos A, Mandarino L, Sekulic A. Association of liprin ?-1 with kank proteins in melanoma. Exp Dermatol. 2016;25:321-3 pubmed publisher
  27. Zhu Y, Kakinuma N, Wang Y, Kiyama R. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. Biochim Biophys Acta. 2008;1780:128-33 pubmed
    ..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...
  28. D Netto M, Ward H, Morrison K, Ramagopalan S, Dyment D, DeLuca G, et al. Risk alleles for multiple sclerosis in multiplex families. Neurology. 2009;72:1984-8 pubmed publisher
    ..In addition, they imply that concentrations of susceptibility alleles at IL2RA, IL7R, EVI5, KIAA0350, and CD58 are partly responsible for the heightened prevalence of multiple sclerosis within multiplex families. ..
  29. Hoppenbrouwers I, Aulchenko Y, Janssens A, Ramagopalan S, Broer L, Kayser M, et al. Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. J Hum Genet. 2009;54:676-80 pubmed publisher
    ..Several of these risk genes, including CD58 and CLEC16A, are shared by different autoimmune diseases. Fine mapping studies will be needed to determine the functional contributions to distinct autoimmune phenotypes. ..
  30. Kohno T, Otsuka A, Girard L, Sato M, Iwakawa R, Ogiwara H, et al. A catalog of genes homozygously deleted in human lung cancer and the candidacy of PTPRD as a tumor suppressor gene. Genes Chromosomes Cancer. 2010;49:342-52 pubmed publisher
    ..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...
  31. Medves S, Noël L, Montano Almendras C, Albu R, Schoemans H, Constantinescu S, et al. Multiple oligomerization domains of KANK1-PDGFR? are required for JAK2-independent hematopoietic cell proliferation and signaling via STAT5 and ERK. Haematologica. 2011;96:1406-14 pubmed publisher
    b>KANK1-PDGFRB is a fusion gene generated by the t(5;9) translocation between KANK1 and the platelet-derived growth factor receptor beta gene PDGFRB...
  32. Lai K, Harwood C, Purdie K, Proby C, Leigh I, Ravi N, et al. Genomic analysis of atypical fibroxanthoma. PLoS ONE. 2017;12:e0188272 pubmed publisher
    ..We observed deletion of chromosomal segments on chr9p and chr13q, including tumor suppressor genes such as KANK1 and CDKN2A, but no gene fusions were found...
  33. Chen T, Wang K, Tong X. In vivo and in vitro inhibition of human gastric cancer progress by upregulating Kank1 gene. Oncol Rep. 2017;38:1663-1669 pubmed publisher
    Recent research has found that Kank1 gene, as one of the important members of the Kank gene family, plays an important role in the occurrence and development of malignant tumors...
  34. Chen C, Lin S, Su Y, Su J, Chern S, Town D, et al. Pure distal 9p deletion in a female infant with cerebral palsy. Genet Couns. 2012;23:215-21 pubmed
    ..The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin. ..
  35. Hwang J, Sim X, Wu Y, Liang J, Tabara Y, Hu C, et al. Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. Diabetes. 2015;64:291-8 pubmed publisher
    ..21,345 participants identified three new FPG loci reaching genome-wide significance in or near PDK1-RAPGEF4, KANK1, and IGF1R...
  36. Weng Z, Shang Y, Yao D, Zhu J, Zhang R. Structural analyses of key features in the KANK1·KIF21A complex yield mechanistic insights into the cross-talk between microtubules and the cell cortex. J Biol Chem. 2018;293:215-225 pubmed publisher
    ..the plus ends of microtubules with the cell cortex is the KANK N-terminal motif and ankyrin repeat domains 1 (KANK1)/kinesin family member 21A (KIF21A) complex...
  37. Pan W, Sun K, Tang K, Xiao Q, Ma C, Yu C, et al. Structural insights into ankyrin repeat-mediated recognition of the kinesin motor protein KIF21A by KANK1, a scaffold protein in focal adhesion. J Biol Chem. 2018;293:1944-1956 pubmed publisher
    Kidney ankyrin repeat-containing proteins (KANK1/2/3/4) belong to a family of scaffold proteins, playing critical roles in cytoskeleton organization, cell polarity, and migration...
  38. Wang Y, Kakinuma N, Zhu Y, Kiyama R. Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin. J Cell Sci. 2006;119:4002-10 pubmed
    The human Kank protein has a role in controlling the formation of the cytoskeleton by regulating actin polymerization. Besides the cytoplasmic localization as reported before, we observed the nuclear localization of Kank in OS-RC-2 cells...