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Entry version 149 (10 Feb 2021)
Sequence version 3 (20 Feb 2007)
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Protein

Interleukin-17 receptor D

Gene

IL17RD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NFM7

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5674135, MAP2K and MAPK activation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Interleukin-17 receptor D
Short name:
IL-17 receptor D
Short name:
IL-17RD
Alternative name(s):
IL17Rhom
Interleukin-17 receptor-like protein
Sef homolog
Short name:
hSef
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IL17RD
Synonyms:IL17RLM, SEF
ORF Names:UNQ6115/PRO20026
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:17616, IL17RD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606807, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFM7

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000144730.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini17 – 299ExtracellularSequence analysisAdd BLAST283
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 739CytoplasmicSequence analysisAdd BLAST419

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)1 Publication
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).1 Publication
Disease descriptionA 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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069936131K → T in HH18; results in decreased expression at the cell surface and reduced activity. 1 PublicationCorresponds to variant dbSNP:rs184758350EnsemblClinVar.1
Natural variantiVAR_069937162K → R in HH18; results in decreased expression at the cell surface. 1 Publication1
Natural variantiVAR_069938306P → S in HH18; reduced activity. 1 Publication1
Natural variantiVAR_069939379Y → C in HH18; rare variant associated with susceptibility to disease; some patients have a second mutation in the HH-associated gene FGFR1; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs369641068EnsemblClinVar.1
Natural variantiVAR_069940468S → L in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs145221454EnsemblClinVar.1
Natural variantiVAR_069941577P → Q in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs587776980EnsemblClinVar.1
Natural variantiVAR_069942735A → V in HH18; rare variant associated with susceptibility to disease; the patient carries a second mutation in the HH-associated gene KISS1R; results in decreased expression at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs587776979EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
54756

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
IL17RD

MalaCards human disease database

More...
MalaCardsi
IL17RD
MIMi615267, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000144730

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
478, Kallmann syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134993407

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NFM7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IL17RD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
126302555

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 16Sequence analysisAdd BLAST16
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004187117 – 739Interleukin-17 receptor DAdd BLAST723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi19N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi55N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi62N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi80N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi137N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi171N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi277N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NFM7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NFM7

PeptideAtlas

More...
PeptideAtlasi
Q8NFM7

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFM7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73324 [Q8NFM7-1]
73325 [Q8NFM7-2]
73326 [Q8NFM7-3]
73327 [Q8NFM7-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q8NFM7, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8NFM7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NFM7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000144730, Expressed in metanephros and 203 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NFM7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NFM7, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000144730, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MAP3K7 (By similarity). Self-associates.

Interacts with FGFR1, FGFR2 and phosphorylated MAP2K1 or MAP2K2. Associates with a MAP2K1/2-MAPK1/3 complex.

By similarity3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120132, 12 interactors

Protein interaction database and analysis system

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IntActi
Q8NFM7, 5 interactors

Molecular INTeraction database

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MINTi
Q8NFM7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000296318

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NFM7, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8NFM7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini355 – 509SEFIRPROSITE-ProRule annotationAdd BLAST155

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi695 – 700Poly-Ser6

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QV61, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156669

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_024846_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NFM7

Identification of Orthologs from Complete Genome Data

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OMAi
DFCLKAE

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NFM7

TreeFam database of animal gene trees

More...
TreeFami
TF329644

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039465, IL-17_rcpt-like
IPR031951, IL17R_D_N
IPR013568, SEFIR_dom
IPR035897, Toll_tir_struct_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR15583, PTHR15583, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF16742, IL17R_D_N, 1 hit
PF08357, SEFIR, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52200, SSF52200, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51534, SEFIR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFM7-1) [UniParc]FASTAAdd to basket
Also known as: hSef-a, IL17RLM-L, Long

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAPWLQLCSV FFTVNACLNG SQLAVAAGGS GRARGADTCG WRGVGPASRN
60 70 80 90 100
SGLYNITFKY DNCTTYLNPV GKHVIADAQN ITISQYACHD QVAVTILWSP
110 120 130 140 150
GALGIEFLKG FRVILEELKS EGRQCQQLIL KDPKQLNSSF KRTGMESQPF
160 170 180 190 200
LNMKFETDYF VKVVPFPSIK NESNYHPFFF RTRACDLLLQ PDNLACKPFW
210 220 230 240 250
KPRNLNISQH GSDMQVSFDH APHNFGFRFF YLHYKLKHEG PFKRKTCKQE
260 270 280 290 300
QTTETTSCLL QNVSPGDYII ELVDDTNTTR KVMHYALKPV HSPWAGPIRA
310 320 330 340 350
VAITVPLVVI SAFATLFTVM CRKKQQENIY SHLDEESSES STYTAALPRE
360 370 380 390 400
RLRPRPKVFL CYSSKDGQNH MNVVQCFAYF LQDFCGCEVA LDLWEDFSLC
410 420 430 440 450
REGQREWVIQ KIHESQFIIV VCSKGMKYFV DKKNYKHKGG GRGSGKGELF
460 470 480 490 500
LVAVSAIAEK LRQAKQSSSA ALSKFIAVYF DYSCEGDVPG ILDLSTKYRL
510 520 530 540 550
MDNLPQLCSH LHSRDHGLQE PGQHTRQGSR RNYFRSKSGR SLYVAICNMH
560 570 580 590 600
QFIDEEPDWF EKQFVPFHPP PLRYREPVLE KFDSGLVLND VMCKPGPESD
610 620 630 640 650
FCLKVEAAVL GATGPADSQH ESQHGGLDQD GEARPALDGS AALQPLLHTV
660 670 680 690 700
KAGSPSDMPR DSGIYDSSVP SSELSLPLME GLSTDQTETS SLTESVSSSS
710 720 730
GLGEEEPPAL PSKLLSSGSC KADLGCRSYT DELHAVAPL
Length:739
Mass (Da):82,411
Last modified:February 20, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7A2B45818DBD6E44
GO
Isoform 2 (identifier: Q8NFM7-2) [UniParc]FASTAAdd to basket
Also known as: IL17RLM-S, Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.

Show »
Length:595
Mass (Da):66,817
Checksum:i12307ED8AA4B4041
GO
Isoform 3 (identifier: Q8NFM7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWR → MPRASASGVPALFVSGEQ

Show »
Length:715
Mass (Da):79,871
Checksum:i27564B1A6F365EF6
GO
Isoform 4 (identifier: Q8NFM7-4) [UniParc]FASTAAdd to basket
Also known as: hSef-b

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWR → MDYRQSWPWQ

Show »
Length:707
Mass (Da):79,463
Checksum:i116027A2BD48902D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J6R0C9J6R0_HUMAN
Interleukin-17 receptor D
IL17RD
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti223H → HGSDMQVSFDHAPH in CAB61408 (PubMed:12975309).Curated1
Sequence conflicti248K → E in AAM74077 (PubMed:12958313).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069936131K → T in HH18; results in decreased expression at the cell surface and reduced activity. 1 PublicationCorresponds to variant dbSNP:rs184758350EnsemblClinVar.1
Natural variantiVAR_069937162K → R in HH18; results in decreased expression at the cell surface. 1 Publication1
Natural variantiVAR_023478255T → M6 PublicationsCorresponds to variant dbSNP:rs6780995Ensembl.1
Natural variantiVAR_023479301V → M. Corresponds to variant dbSNP:rs17057718Ensembl.1
Natural variantiVAR_069938306P → S in HH18; reduced activity. 1 Publication1
Natural variantiVAR_069939379Y → C in HH18; rare variant associated with susceptibility to disease; some patients have a second mutation in the HH-associated gene FGFR1; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs369641068EnsemblClinVar.1
Natural variantiVAR_069940468S → L in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs145221454EnsemblClinVar.1
Natural variantiVAR_069941577P → Q in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs587776980EnsemblClinVar.1
Natural variantiVAR_069942735A → V in HH18; rare variant associated with susceptibility to disease; the patient carries a second mutation in the HH-associated gene KISS1R; results in decreased expression at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs587776979EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0155821 – 144Missing in isoform 2. 2 PublicationsAdd BLAST144
Alternative sequenceiVSP_0155831 – 42MAPWL…TCGWR → MPRASASGVPALFVSGEQ in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0155841 – 42MAPWL…TCGWR → MDYRQSWPWQ in isoform 4. 2 PublicationsAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF494208 mRNA Translation: AAM74077.1
AF494211 mRNA Translation: AAM74080.1
AY489047 mRNA Translation: AAS15051.2
AF458067 mRNA Translation: AAM77571.1
AY358774 mRNA Translation: AAQ89134.1
AL133097 mRNA Translation: CAB61408.1
AL833913 mRNA Translation: CAD38769.1
BC111702 mRNA Translation: AAI11703.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS2880.2 [Q8NFM7-1]
CCDS82790.1 [Q8NFM7-2]

Protein sequence database of the Protein Information Resource

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PIRi
T42695

NCBI Reference Sequences

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RefSeqi
NP_001305793.1, NM_001318864.1 [Q8NFM7-2]
NP_060033.3, NM_017563.4 [Q8NFM7-1]
XP_006713272.1, XM_006713209.3
XP_011532151.2, XM_011533849.2 [Q8NFM7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000296318; ENSP00000296318; ENSG00000144730 [Q8NFM7-1]
ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2]
ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54756

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54756

UCSC genome browser

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UCSCi
uc003dil.3, human [Q8NFM7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF494208 mRNA Translation: AAM74077.1
AF494211 mRNA Translation: AAM74080.1
AY489047 mRNA Translation: AAS15051.2
AF458067 mRNA Translation: AAM77571.1
AY358774 mRNA Translation: AAQ89134.1
AL133097 mRNA Translation: CAB61408.1
AL833913 mRNA Translation: CAD38769.1
BC111702 mRNA Translation: AAI11703.2
CCDSiCCDS2880.2 [Q8NFM7-1]
CCDS82790.1 [Q8NFM7-2]
PIRiT42695
RefSeqiNP_001305793.1, NM_001318864.1 [Q8NFM7-2]
NP_060033.3, NM_017563.4 [Q8NFM7-1]
XP_006713272.1, XM_006713209.3
XP_011532151.2, XM_011533849.2 [Q8NFM7-2]

3D structure databases

SMRiQ8NFM7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120132, 12 interactors
IntActiQ8NFM7, 5 interactors
MINTiQ8NFM7
STRINGi9606.ENSP00000296318

PTM databases

GlyGeniQ8NFM7, 8 sites
iPTMnetiQ8NFM7
PhosphoSitePlusiQ8NFM7

Genetic variation databases

BioMutaiIL17RD
DMDMi126302555

Proteomic databases

MassIVEiQ8NFM7
PaxDbiQ8NFM7
PeptideAtlasiQ8NFM7
PRIDEiQ8NFM7
ProteomicsDBi73324 [Q8NFM7-1]
73325 [Q8NFM7-2]
73326 [Q8NFM7-3]
73327 [Q8NFM7-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31518, 303 antibodies

Genome annotation databases

EnsembliENST00000296318; ENSP00000296318; ENSG00000144730 [Q8NFM7-1]
ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2]
ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2]
GeneIDi54756
KEGGihsa:54756
UCSCiuc003dil.3, human [Q8NFM7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54756
DisGeNETi54756

GeneCards: human genes, protein and diseases

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GeneCardsi
IL17RD
GeneReviewsiIL17RD
HGNCiHGNC:17616, IL17RD
HPAiENSG00000144730, Low tissue specificity
MalaCardsiIL17RD
MIMi606807, gene
615267, phenotype
neXtProtiNX_Q8NFM7
OpenTargetsiENSG00000144730
Orphaneti478, Kallmann syndrome
PharmGKBiPA134993407
VEuPathDBiHostDB:ENSG00000144730.16

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QV61, Eukaryota
GeneTreeiENSGT00940000156669
HOGENOMiCLU_024846_0_0_1
InParanoidiQ8NFM7
OMAiDFCLKAE
PhylomeDBiQ8NFM7
TreeFamiTF329644

Enzyme and pathway databases

PathwayCommonsiQ8NFM7
ReactomeiR-HSA-5674135, MAP2K and MAPK activation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54756, 6 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
IL17RD, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54756
PharosiQ8NFM7, Tbio

Protein Ontology

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PROi
PR:Q8NFM7
RNActiQ8NFM7, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000144730, Expressed in metanephros and 203 other tissues
ExpressionAtlasiQ8NFM7, baseline and differential
GenevisibleiQ8NFM7, HS

Family and domain databases

InterProiView protein in InterPro
IPR039465, IL-17_rcpt-like
IPR031951, IL17R_D_N
IPR013568, SEFIR_dom
IPR035897, Toll_tir_struct_dom_sf
PANTHERiPTHR15583, PTHR15583, 1 hit
PfamiView protein in Pfam
PF16742, IL17R_D_N, 1 hit
PF08357, SEFIR, 1 hit
SUPFAMiSSF52200, SSF52200, 1 hit
PROSITEiView protein in PROSITE
PS51534, SEFIR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiI17RD_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NFM7
Secondary accession number(s): Q2NKP7
, Q58EZ7, Q6RVF4, Q6UWI5, Q8N113, Q8NFS0, Q9UFA0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: February 20, 2007
Last modified: February 10, 2021
This is version 149 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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