Ankyrin repeat domain 11 explained

Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.^[1]

Function

This locus encodes an ankyrin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.

Further reading

• Zhang A, Li CW, Chen JD . Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1 . Biochem. Biophys. Res. Commun. . 358 . 4 . 1034–40 . July 2007 . 17521611 . 1950474 . 10.1016/j.bbrc.2007.05.017 .
• Neilsen PM, Cheney KM, Li CW, Chen JD, Cawrse JE, Schulz RB, Powell JA, Kumar R, Callen DF . Identification of ANKRD11 as a p53 coactivator . J. Cell Sci. . 121 . Pt 21 . 3541–52 . November 2008 . 18840648 . 10.1242/jcs.026351 . free .
• Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T . Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome . Eur. J. Hum. Genet. . 18 . 4 . 429–35 . April 2010 . 19920853 . 2987261 . 10.1038/ejhg.2009.192 .
• Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M . Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia . Am. J. Hum. Genet. . 89 . 2 . 289–94 . August 2011 . 21782149 . 3155157 . 10.1016/j.ajhg.2011.06.007 .
• Lim SP, Wong NC, Suetani RJ, Ho K, Ng JL, Neilsen PM, Gill PG, Kumar R, Callen DF . Specific-site methylation of tumour suppressor ANKRD11 in breast cancer . Eur. J. Cancer . 48 . 17 . 3300–9 . November 2012 . 22538187 . 10.1016/j.ejca.2012.03.023 .
• Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P . Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations . Am. J. Med. Genet. B Neuropsychiatr. Genet. . 162B . 1 . 17–23 . January 2013 . 23184435 . 10.1002/ajmg.b.32113 . 31299809 .
• Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J . Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome . Am. J. Med. Genet. A . 161A . 4 . 835–40 . April 2013 . 23494856 . 10.1002/ajmg.a.35739 . 25326354 .
• Garee JP, Chien CD, Li JV, Wellstein A, Riegel AT . Regulation of HER2 oncogene transcription by a multifunctional coactivator/corepressor complex . Mol. Endocrinol. . 28 . 6 . 846–59 . June 2014 . 24678732 . 4042073 . 10.1210/me.2013-1379 .
• Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M . Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome . Hum. Genet. . 134 . 2 . 181–90 . February 2015 . 25413698 . 10.1007/s00439-014-1509-2 . 1874/332012 . 2607611 . free .

Notes and References

1. Web site: Entrez Gene: Ankyrin repeat domain 11 . 2018-04-12 .