| Structural highlights
Disease
WDR11_HUMAN Pituitary stalk interruption syndrome;Kallmann syndrome;Normosmic congenital hypogonadotropic hypogonadism. A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.[1] A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).[2] The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
WDR11_HUMAN Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).[3] [4]
References
- ↑ Chernova OB, Hunyadi A, Malaj E, Pan H, Crooks C, Roe B, Cowell JK. A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells. Oncogene. 2001 Aug 30;20(38):5378-92. PMID:11536051 doi:10.1038/sj.onc.1204694
- ↑ Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2010 Oct 8;87(4):465-79. PMID:20887964 doi:10.1016/j.ajhg.2010.08.018
- ↑ Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Känsäkoski J, Brandstack N, Kim HT, Miralles F, Kim CH, Brown NA, Kim HG, Martinez-Barbera JP, Ataliotis P, Raivio T, Layman LC, Kim SH. WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. EMBO Rep. 2018 Feb;19(2):269-289. PMID:29263200 doi:10.15252/embr.201744632
- ↑ Navarro Negredo P, Edgar JR, Manna PT, Antrobus R, Robinson MS. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. Nat Commun. 2018 Feb 9;9(1):596. doi: 10.1038/s41467-018-02919-4. PMID:29426865 doi:https://dx.doi.org/10.1038/s41467-018-02919-4
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