WDR11

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus.

Full Name

WDR11

Function

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).

Biological Process

Biological Process cilium assembly Source:UniProtKB
Biological Process head development Source:UniProtKB
Biological Process heart development Source:UniProtKB
Biological Process intracellular protein transport Source:UniProtKB1 Publication
Biological Process multicellular organism growth Source:UniProtKB
Biological Process regulation of smoothened signaling pathway Source:UniProtKB
Biological Process vesicle tethering to Golgi Source:UniProtKB1 Publication

Cellular Location

Cytoplasm, cytoskeleton, cilium basal body
Cytoplasm
Nucleus
Cytoplasm, cytoskeleton, cilium axoneme
Cytoplasmic vesicle
Golgi apparatus, trans-Golgi network
Shuttles from the cilium to the nucleus in response to Hh signaling (PubMed:29263200).
Might be shuttling between the nucleus and the cytoplasm (PubMed:20887964).

Involvement in disease

Hypogonadotropic hypogonadism 14 with or without anosmia (HH14):
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).