IL17RD
entrez
54756
canonical
uniprot
Q8NFM7
canonical
ensembl
ENSG00000144730
resolver
ensp
ENSP00000296318
resolver
ensp
ENSP00000322250
resolver
ensp
ENSP00000417516
resolver
genesymbol
IL17RD
resolver
genesymbol_syn
IL17RLM
resolver
genesymbol_syn
SEF
resolver
hgnc
HGNC:17616
resolver
uniprot
B4DXM5
resolver
uniprot
Q2NKP7
resolver
uniprot
Q58EZ7
resolver
uniprot
Q6RVF4
resolver
uniprot
Q6UWI5
resolver
uniprot
Q8N113
resolver
uniprot
Q8NFS0
resolver
uniprot
Q9UFA0
resolver
uniprot_entry
B4DXM5_HUMAN
resolver
uniprot_entry
I17RD_HUMAN
resolver
uniprot_sec
Q2NKP7
resolver
uniprot_sec
Q58EZ7
resolver
uniprot_sec
Q6RVF4
resolver
uniprot_sec
Q6UWI5
resolver
uniprot_sec
Q8N113
resolver
uniprot_sec
Q8NFS0
resolver
uniprot_sec
Q9UFA0
resolver
amino_acid_sequence
MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWRGVGPASRNSGLYNITFKYDNCTTYLNPVGKHVIADAQNITISQYACHDQVAVTILWSPGALGIEFLKGFRVILEELKSEGRQCQQLILKDPKQLNSSFKRTGMESQPFLNMKFETDYFVKVVPFPSIKNESNYHPFFFRTRACDLLLQPDNLACKPFWKPRNLNISQHGSDMQVSFDHAPHNFGFRFFYLHYKLKHEGPFKRKTCKQEQTTETTSCLLQNVSPGDYIIELVDDTNTTRKVMHYALKPVHSPWAGPIRAVAITVPLVVISAFATLFTVMCRKKQQENIYSHLDEESSESSTYTAALPRERLRPRPKVFLCYSSKDGQNHMNVVQCFAYFLQDFCGCEVALDLWEDFSLCREGQREWVIQKIHESQFIIVVCSKGMKYFVDKKNYKHKGGGRGSGKGELFLVAVSAIAEKLRQAKQSSSAALSKFIAVYFDYSCEGDVPGILDLSTKYRLMDNLPQLCSHLHSRDHGLQEPGQHTRQGSRRNYFRSKSGRSLYVAICNMHQFIDEEPDWFEKQFVPFHPPPLRYREPVLEKFDSGLVLNDVMCKPGPESDFCLKVEAAVLGATGPADSQHESQHGGLDQDGEARPALDGSAALQPLLHTVKAGSPSDMPRDSGIYDSSVPSSELSLPLMEGLSTDQTETSSLTESVSSSSGLGEEEPPALPSKLLSSGSCKADLGCRSYTDELHAVAPL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23643382}. Note=The disease is caused by variants 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:0000269|PubMed:23643382}.
uniprot
proteins
function
FUNCTION: Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation (PubMed:12807873, PubMed:12958313). 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). {ECO:0000250|UniProtKB:Q8JZL1, ECO:0000269|PubMed:12807873, ECO:0000269|PubMed:12958313, ECO:0000269|PubMed:15239952}.
uniprot
proteins
mass_dalton
82411
uniprot
proteins
pubmed
12807873
uniprot
proteins
pubmed
12958313
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14742870
uniprot
proteins
pubmed
15239952
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23643382
uniprot
proteins
sequence_length
739
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:14742870}; Single-pass type I membrane protein {ECO:0000269|PubMed:14742870}. Cell membrane {ECO:0000269|PubMed:14742870}; Single-pass type I membrane protein {ECO:0000269|PubMed:14742870}. Note=Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm.
uniprot
proteins
transmembrane_region
TRANSMEM 300..320; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins