IL17RD

This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms.

Full Name

Interleukin 17 Receptor D

Function

Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation (PubMed:12958313, PubMed:12807873).

Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK (PubMed:15239952).

Mediates JNK activation and may be involved in apoptosis (By similarity).

May inhibit FGF-induced FGFR1 tyrosine phosphorylation (By similarity).

Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity).

Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity).

Biological Process

Negative regulation of epithelial to mesenchymal transition Source: UniProtKB
Negative regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB

Cellular Location

Golgi apparatus membrane; Cell membrane. Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.
Isoform 4: Cytoplasm

Involvement in disease

Hypogonadotropic hypogonadism 18 with or without anosmia (HH18):
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).

Topology

Extracellular: 17-299
Helical: 300-320
Cytoplasmic: 321-739