UniProtKB - Q8NFM7 (I17RD_HUMAN)
Interleukin-17 receptor D
IL17RD
Functioni
GO - Molecular functioni
- interleukin-17 receptor activity Source: GO_Central
GO - Biological processi
- MAPK cascade Source: Reactome
- negative regulation of epithelial to mesenchymal transition Source: UniProtKB
- negative regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
Keywordsi
Molecular function | Receptor |
Enzyme and pathway databases
PathwayCommonsi | Q8NFM7 |
Reactomei | R-HSA-5674135, MAP2K and MAPK activation |
Names & Taxonomyi
Protein namesi | Recommended name: Interleukin-17 receptor DShort name: IL-17 receptor D Short name: IL-17RD Alternative name(s): IL17Rhom Interleukin-17 receptor-like protein Sef homolog Short name: hSef |
Gene namesi | Name:IL17RD Synonyms:IL17RLM, SEF ORF Names:UNQ6115/PRO20026 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17616, IL17RD |
MIMi | 606807, gene |
neXtProti | NX_Q8NFM7 |
VEuPathDBi | HostDB:ENSG00000144730.16 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Note: Predominantly associated with the Golgi apparatus and is partially translocated to the plasma membrane upon stimulation.
Other locations
Golgi apparatus
- Golgi apparatus Source: HPA
- Golgi membrane Source: Reactome
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 17 – 299 | ExtracellularSequence analysisAdd BLAST | 283 | |
Transmembranei | 300 – 320 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 321 – 739 | CytoplasmicSequence analysisAdd BLAST | 419 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069936 | 131 | K → T in HH18; results in decreased expression at the cell surface and reduced activity. 1 PublicationCorresponds to variant dbSNP:rs184758350EnsemblClinVar. | 1 | |
Natural variantiVAR_069937 | 162 | K → R in HH18; results in decreased expression at the cell surface. 1 Publication | 1 | |
Natural variantiVAR_069938 | 306 | P → S in HH18; reduced activity. 1 Publication | 1 | |
Natural variantiVAR_069939 | 379 | Y → 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_069940 | 468 | S → L in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs145221454EnsemblClinVar. | 1 | |
Natural variantiVAR_069941 | 577 | P → Q in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs587776980EnsemblClinVar. | 1 | |
Natural variantiVAR_069942 | 735 | A → 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 syndromeOrganism-specific databases
DisGeNETi | 54756 |
GeneReviewsi | IL17RD |
MalaCardsi | IL17RD |
MIMi | 615267, phenotype |
OpenTargetsi | ENSG00000144730 |
Orphaneti | 478, Kallmann syndrome |
PharmGKBi | PA134993407 |
Miscellaneous databases
Pharosi | Q8NFM7, Tbio |
Genetic variation databases
BioMutai | IL17RD |
DMDMi | 126302555 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 16 | Sequence analysisAdd BLAST | 16 | |
ChainiPRO_0000041871 | 17 – 739 | Interleukin-17 receptor DAdd BLAST | 723 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 19 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 55 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 62 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 80 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 137 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 171 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 206 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 277 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q8NFM7 |
PaxDbi | Q8NFM7 |
PeptideAtlasi | Q8NFM7 |
PRIDEi | Q8NFM7 |
ProteomicsDBi | 73324 [Q8NFM7-1] 73325 [Q8NFM7-2] 73326 [Q8NFM7-3] 73327 [Q8NFM7-4] |
PTM databases
GlyGeni | Q8NFM7, 8 sites |
iPTMneti | Q8NFM7 |
PhosphoSitePlusi | Q8NFM7 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000144730, Expressed in metanephros and 203 other tissues |
ExpressionAtlasi | Q8NFM7, baseline and differential |
Genevisiblei | Q8NFM7, HS |
Organism-specific databases
HPAi | ENSG00000144730, Low tissue specificity |
Interactioni
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 PublicationsProtein-protein interaction databases
BioGRIDi | 120132, 12 interactors |
IntActi | Q8NFM7, 5 interactors |
MINTi | Q8NFM7 |
STRINGi | 9606.ENSP00000296318 |
Miscellaneous databases
RNActi | Q8NFM7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 355 – 509 | SEFIRPROSITE-ProRule annotationAdd BLAST | 155 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 695 – 700 | Poly-Ser | 6 |
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QV61, Eukaryota |
GeneTreei | ENSGT00940000156669 |
HOGENOMi | CLU_024846_0_0_1 |
InParanoidi | Q8NFM7 |
OMAi | DFCLKAE |
PhylomeDBi | Q8NFM7 |
TreeFami | TF329644 |
Family and domain databases
InterProi | View protein in InterPro IPR039465, IL-17_rcpt-like IPR031951, IL17R_D_N IPR013568, SEFIR_dom IPR035897, Toll_tir_struct_dom_sf |
PANTHERi | PTHR15583, PTHR15583, 1 hit |
Pfami | View protein in Pfam PF16742, IL17R_D_N, 1 hit PF08357, SEFIR, 1 hit |
SUPFAMi | SSF52200, SSF52200, 1 hit |
PROSITEi | View protein in PROSITE PS51534, SEFIR, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9J6R0 | C9J6R0_HUMAN | Interleukin-17 receptor D | IL17RD | 73 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 223 | H → HGSDMQVSFDHAPH in CAB61408 (PubMed:12975309).Curated | 1 | |
Sequence conflicti | 248 | K → E in AAM74077 (PubMed:12958313).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069936 | 131 | K → T in HH18; results in decreased expression at the cell surface and reduced activity. 1 PublicationCorresponds to variant dbSNP:rs184758350EnsemblClinVar. | 1 | |
Natural variantiVAR_069937 | 162 | K → R in HH18; results in decreased expression at the cell surface. 1 Publication | 1 | |
Natural variantiVAR_023478 | 255 | T → M6 PublicationsCorresponds to variant dbSNP:rs6780995Ensembl. | 1 | |
Natural variantiVAR_023479 | 301 | V → M. Corresponds to variant dbSNP:rs17057718Ensembl. | 1 | |
Natural variantiVAR_069938 | 306 | P → S in HH18; reduced activity. 1 Publication | 1 | |
Natural variantiVAR_069939 | 379 | Y → 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_069940 | 468 | S → L in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs145221454EnsemblClinVar. | 1 | |
Natural variantiVAR_069941 | 577 | P → Q in HH18; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs587776980EnsemblClinVar. | 1 | |
Natural variantiVAR_069942 | 735 | A → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015582 | 1 – 144 | Missing in isoform 2. 2 PublicationsAdd BLAST | 144 | |
Alternative sequenceiVSP_015583 | 1 – 42 | MAPWL…TCGWR → MPRASASGVPALFVSGEQ in isoform 3. 1 PublicationAdd BLAST | 42 | |
Alternative sequenceiVSP_015584 | 1 – 42 | MAPWL…TCGWR → MDYRQSWPWQ in isoform 4. 2 PublicationsAdd BLAST | 42 |
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 |
CCDSi | CCDS2880.2 [Q8NFM7-1] CCDS82790.1 [Q8NFM7-2] |
PIRi | T42695 |
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
Ensembli | ENST00000296318; ENSP00000296318; ENSG00000144730 [Q8NFM7-1] ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2] ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2] |
GeneIDi | 54756 |
KEGGi | hsa:54756 |
UCSCi | uc003dil.3, human [Q8NFM7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS2880.2 [Q8NFM7-1] CCDS82790.1 [Q8NFM7-2] |
PIRi | T42695 |
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] |
3D structure databases
SMRi | Q8NFM7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120132, 12 interactors |
IntActi | Q8NFM7, 5 interactors |
MINTi | Q8NFM7 |
STRINGi | 9606.ENSP00000296318 |
PTM databases
GlyGeni | Q8NFM7, 8 sites |
iPTMneti | Q8NFM7 |
PhosphoSitePlusi | Q8NFM7 |
Genetic variation databases
BioMutai | IL17RD |
DMDMi | 126302555 |
Proteomic databases
MassIVEi | Q8NFM7 |
PaxDbi | Q8NFM7 |
PeptideAtlasi | Q8NFM7 |
PRIDEi | Q8NFM7 |
ProteomicsDBi | 73324 [Q8NFM7-1] 73325 [Q8NFM7-2] 73326 [Q8NFM7-3] 73327 [Q8NFM7-4] |
Protocols and materials databases
Antibodypediai | 31518, 303 antibodies |
Genome annotation databases
Ensembli | ENST00000296318; ENSP00000296318; ENSG00000144730 [Q8NFM7-1] ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2] ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2] |
GeneIDi | 54756 |
KEGGi | hsa:54756 |
UCSCi | uc003dil.3, human [Q8NFM7-1] |
Organism-specific databases
CTDi | 54756 |
DisGeNETi | 54756 |
GeneCardsi | IL17RD |
GeneReviewsi | IL17RD |
HGNCi | HGNC:17616, IL17RD |
HPAi | ENSG00000144730, Low tissue specificity |
MalaCardsi | IL17RD |
MIMi | 606807, gene 615267, phenotype |
neXtProti | NX_Q8NFM7 |
OpenTargetsi | ENSG00000144730 |
Orphaneti | 478, Kallmann syndrome |
PharmGKBi | PA134993407 |
VEuPathDBi | HostDB:ENSG00000144730.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV61, Eukaryota |
GeneTreei | ENSGT00940000156669 |
HOGENOMi | CLU_024846_0_0_1 |
InParanoidi | Q8NFM7 |
OMAi | DFCLKAE |
PhylomeDBi | Q8NFM7 |
TreeFami | TF329644 |
Enzyme and pathway databases
PathwayCommonsi | Q8NFM7 |
Reactomei | R-HSA-5674135, MAP2K and MAPK activation |
Miscellaneous databases
BioGRID-ORCSi | 54756, 6 hits in 872 CRISPR screens |
ChiTaRSi | IL17RD, human |
GenomeRNAii | 54756 |
Pharosi | Q8NFM7, Tbio |
PROi | PR:Q8NFM7 |
RNActi | Q8NFM7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000144730, Expressed in metanephros and 203 other tissues |
ExpressionAtlasi | Q8NFM7, baseline and differential |
Genevisiblei | Q8NFM7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039465, IL-17_rcpt-like IPR031951, IL17R_D_N IPR013568, SEFIR_dom IPR035897, Toll_tir_struct_dom_sf |
PANTHERi | PTHR15583, PTHR15583, 1 hit |
Pfami | View protein in Pfam PF16742, IL17R_D_N, 1 hit PF08357, SEFIR, 1 hit |
SUPFAMi | SSF52200, SSF52200, 1 hit |
PROSITEi | View protein in PROSITE PS51534, SEFIR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | I17RD_HUMAN | |
Accessioni | Q8NFM7Primary (citable) accession number: Q8NFM7 Secondary accession number(s): Q2NKP7 Q9UFA0 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM