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UniProtKB - Q8NFM7 (I17RD_HUMAN)

Entry version 153 (23 Feb 2022)
Sequence version 3 (20 Feb 2007)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8NFM7

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

More...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

<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

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

More...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 204 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NFM7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NFM7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000144730, Tissue enhanced (choroid)

<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)

More...BioGRIDi		120132, 14 interactors

Protein interaction database and analysis system

More...IntActi		Q8NFM7, 5 interactors

Molecular INTeraction database

More...MINTi		Q8NFM7

STRING: functional protein association networks

More...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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni614 – 635DisorderedSequence analysisAdd BLAST22
Regioni650 – 719DisorderedSequence analysisAdd BLAST70

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi665 – 702Polar residuesSequence analysisAdd BLAST38

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QV61, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156669

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_024846_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NFM7

Identification of Orthologs from Complete Genome Data

More...OMAi		DFCLKAE

Database for complete collections of gene phylogenies

More...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

More...PANTHERi		PTHR15583, PTHR15583, 1 hit

Pfam protein domain database

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

Superfamily database of structural and functional annotation

More...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.<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 <p><strong>What is the canonical sequence?</strong><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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

Protein sequence database of the Protein Information Resource

More...PIRi		T42695

NCBI Reference Sequences

More...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

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54756

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54756

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000296318.12; ENSP00000296318.7; NM_017563.5; NP_060033.3

UCSC genome browser

More...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, 14 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

More...Antibodypediai		31518, 309 antibodies from 31 providers

The DNASU plasmid repository

More...DNASUi		54756

Genome annotation databases

EnsembliENST00000296318; ENSP00000296318; ENSG00000144730
ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2]
ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2]
GeneIDi54756
KEGGihsa:54756
MANE-SelectiENST00000296318.12; ENSP00000296318.7; NM_017563.5; NP_060033.3
UCSCiuc003dil.3, human [Q8NFM7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54756
DisGeNETi54756

GeneCards: human genes, protein and diseases

More...GeneCardsi		IL17RD
GeneReviewsiIL17RD
HGNCiHGNC:17616, IL17RD
HPAiENSG00000144730, Tissue enhanced (choroid)
MalaCardsiIL17RD
MIMi606807, gene
615267, phenotype
neXtProtiNX_Q8NFM7
OpenTargetsiENSG00000144730
Orphaneti478, Kallmann syndrome
PharmGKBiPA134993407
VEuPathDBiHostDB:ENSG00000144730

GenAtlas: human gene database

More...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
SignaLinkiQ8NFM7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54756, 10 hits in 1036 CRISPR screens

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

More...ChiTaRSi		IL17RD, human

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

More...GenomeRNAii		54756
PharosiQ8NFM7, Tbio

Protein Ontology

More...PROi		PR:Q8NFM7
RNActiQ8NFM7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000144730, Expressed in metanephros and 204 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

MobiDB: a database of protein disorder and mobility annotations

More...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 23, 2022
This is version 153 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 chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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