Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene: KANK1 - KN motif and ankyrin repeat domains 1

Homo sapiens

Synonyms: ANKRD15, ankyrin repeat domain 15, Ankyrin repeat domain-containing protein 15, DKFZp451G231, KANK, KIAA0172, Kidney ankyrin repeat-containing protein, MGC43128

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Roy, B.C., Wang, Y., Lerer, I., Wang, Y., Sarkar, S., et al.

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Disease relevance of ANKRD15

By a combination of genome subtraction and comprehensive analysis of loss of heterozygosity based on mapping hemizygous deletions for a potential tumor-related locus, a minimum overlapping region of deletions at 9p24 the size of 165 kb was identified and found to harbor a new potential tumor suppressor gene for renal cell carcinoma, the Kank gene [1].
Here, to examine the transcriptional initiation and genomic organization of the human Kank gene, we performed 5'-RACE (rapid amplification of cDNA ends) using total RNA from normal kidney and a human kidney cancer cell line, VMRC-RCW cells [2].
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy [3].
We identified 13 new gene expression markers that were elevated and one marker, ANKRD15, that was down-regulated in patients with polycythemia vera (PV) [4].

High impact information on ANKRD15

However, differences in methylation pattern were found in the CpG islands flanking the DMRT1 gene, which is located at the 3' side of the ANKRD15 gene [3].
No correlation was found between the expression of the ANKRD15 gene and the pattern of DNA methylation in the CpG islands 5' of the gene [3].
TOPFLASH reporter assays revealed a positive relationship between the nuclear import of Kank and the activation of beta-catenin-dependent transcription [5].
The human Kank protein has a role in controlling the formation of the cytoskeleton by regulating actin polymerization [5].
The localization of Kank in the cells before and after treatment with leptomycin B suggested that the transportation of Kank from the nucleus to the cytoplasm was mediated by a CRM1-dependent mechanism [5].

Biological context of ANKRD15

The results suggest that the human Kank gene has several alternative first exons [2].
Alternative splicing of the human Kank gene produces two types of Kank protein [2].
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 actin [6].
The involvement of the chromosome region 9p24 is particularly interesting because of the recent identification of a tumor suppressor gene, KANK (kidney ankyrin repeat-containing protein), at this locus [7].

Anatomical context of ANKRD15

Here, we characterized the Kank protein in renal tubular cells as well as other glandular cells in the colon, stomach, prostate, testis, pancreas, thyroid, uterus, submandibular gland, adrenal, duodenum, and esophagus, and specific cells such as hepatic, alveolar myocardial, and glial cells by using a monoclonal antibody against Kank [6].

Other interactions of ANKRD15

The human Kank gene encodes an ankyrin repeat domain-containing protein which regulates actin polymerization [2].

Analytical, diagnostic and therapeutic context of ANKRD15

The expression of ANKRD15 in lymphoblastoid cells from the control group was monoallelic but not imprinted [3].
Loss of expression of Kank in one RCC sample was detected by immunohistochemical and Western blot analyses while expression of CDKN2A (p16/Ink4A) was retained in the sample [6].

References

A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. Sarkar, S., Roy, B.C., Hatano, N., Aoyagi, T., Gohji, K., Kiyama, R. J. Biol. Chem. (2002)
Alternative splicing of the human Kank gene produces two types of Kank protein. Wang, Y., Onishi, Y., Kakinuma, N., Roy, B.C., Aoyagi, T., Kiyama, R. Biochem. Biophys. Res. Commun. (2005)
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Lerer, I., Sagi, M., Meiner, V., Cohen, T., Zlotogora, J., Abeliovich, D. Hum. Mol. Genet. (2005)
Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Kralovics, R., Teo, S.S., Buser, A.S., Brutsche, M., Tiedt, R., Tichelli, A., Passamonti, F., Pietra, D., Cazzola, M., Skoda, R.C. Blood (2005)
Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of {beta}-catenin. Wang, Y., Kakinuma, N., Zhu, Y., Kiyama, R. J. Cell. Sci. (2006)
Pathological characterization of Kank in renal cell carcinoma. Roy, B.C., Aoyagi, T., Sarkar, S., Nomura, K., Kanda, H., Iwaya, K., Tachibana, M., Kiyama, R. Exp. Mol. Pathol. (2005)
Renal metanephric adenoma with previously unreported cytogenetic abnormalities: case report and review of the literature. Rakheja, D., Lian, F., Tomlinson, G.E., Ewalt, D.H., Schultz, R.A., Margraf, L.R. Pediatr. Dev. Pathol. (2005)