InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPRY4

Summary

InnateDB Protein

IDBP-51217.6

Last Modified

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

Gene Symbol

SPRY4

Protein Name

sprouty homolog 4 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000344967

InnateDB Gene

IDBG-51215 (SPRY4)

Protein Structure

UniProt Annotation

Function

Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits Ras-independent, but not Ras-dependent, activation of RAF1. {ECO:0000269PubMed:12717443}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:12027893}. Cell projection, ruffle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.

Disease Associations

Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]: 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 SPRY4 also have a heterozygous mutation in another HH-associated gene including DUSP6 and FGFR1 (PubMed:23643382). {ECO:0000269PubMed:23643382}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.