Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.[5]
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.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167522 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035569 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Ankyrin repeat domain 11". Retrieved 2018-04-12.
Further reading
- Zhang A, Li CW, Chen JD (July 2007). "Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1". Biochem. Biophys. Res. Commun. 358 (4): 1034–40. doi:10.1016/j.bbrc.2007.05.017. PMC 1950474. PMID 17521611.
- Neilsen PM, Cheney KM, Li CW, Chen JD, Cawrse JE, Schulz RB, Powell JA, Kumar R, Callen DF (November 2008). "Identification of ANKRD11 as a p53 coactivator". J. Cell Sci. 121 (Pt 21): 3541–52. doi:10.1242/jcs.026351. PMID 18840648.
- 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 (April 2010). "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. doi:10.1038/ejhg.2009.192. PMC 2987261. PMID 19920853.
- 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 (August 2011). "Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia". Am. J. Hum. Genet. 89 (2): 289–94. doi:10.1016/j.ajhg.2011.06.007. PMC 3155157. PMID 21782149.
- Lim SP, Wong NC, Suetani RJ, Ho K, Ng JL, Neilsen PM, Gill PG, Kumar R, Callen DF (November 2012). "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer". Eur. J. Cancer. 48 (17): 3300–9. doi:10.1016/j.ejca.2012.03.023. PMID 22538187.
- Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P (January 2013). "Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations". Am. J. Med. Genet. B Neuropsychiatr. Genet. 162B (1): 17–23. doi:10.1002/ajmg.b.32113. PMID 23184435. S2CID 31299809.
- Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J (April 2013). "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. doi:10.1002/ajmg.a.35739. PMID 23494856. S2CID 25326354.
- Garee JP, Chien CD, Li JV, Wellstein A, Riegel AT (June 2014). "Regulation of HER2 oncogene transcription by a multifunctional coactivator/corepressor complex". Mol. Endocrinol. 28 (6): 846–59. doi:10.1210/me.2013-1379. PMC 4042073. PMID 24678732.
- 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 (February 2015). "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome". Hum. Genet. 134 (2): 181–90. doi:10.1007/s00439-014-1509-2. hdl:1874/332012. PMID 25413698. S2CID 2607611.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.