InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IL17RD

Summary

InnateDB Protein

IDBP-41017.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IL17RD

Protein Name

interleukin 17 receptor D

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000296318

InnateDB Gene

IDBG-41013 (IL17RD)

Protein Structure

UniProt Annotation

Function

Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity). {ECO:0000250}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:14742870}; Single-pass type I membrane protein {ECO:0000269PubMed:14742870}. Cell membrane {ECO:0000269PubMed:14742870}; Single-pass type I membrane protein {ECO:0000269PubMed:14742870}. Note=Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.Isoform 4: Cytoplasm.

Disease Associations

Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]: 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). {ECO:0000269PubMed:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in IL17RD also have a heterozygous mutation in another HH-associated gene including FGFR1 and KISS1R (PubMed:23643382). {ECO:0000269PubMed:23643382}.

Tissue Specificity

Expressed in umbilical vein endothelial cells and in several highly vascularized tissues such as kidney, colon, skeletal muscle, heart and small intestine. Highly expressed in ductal epithelial cells of salivary glands, seminal vesicles and the collecting tubules of the kidney. Isoform 1 is also highly expressed in both fetal and adult brain, pituitary, tonsils, spleen, adenoids, fetal kidney, liver, testes and ovary. Isoform 1 is also expressed at moderate levels in primary aortic endothelial cells and adrenal medulla, and at low levels in adrenal cortex. Isoform 4 is specifically and highly expressed in pituitary, fetal brain and umbilical vein endothelial cells. {ECO:0000269PubMed:12807873}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.