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UniProtKB - Q8NFM7 (I17RD_HUMAN)

Protein

Interleukin-17 receptor D

Gene

IL17RD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity).By similarity3 Publications

GO - Molecular functioni

  • interleukin-17 receptor activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-5674135 MAP2K and MAPK activation

Names & Taxonomyi

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
Gene namesi
Name:IL17RD
Synonyms:IL17RLM, SEF
ORF Names:UNQ6115/PRO20026
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000144730.16
HGNCiHGNC:17616 IL17RD
MIMi606807 gene
neXtProtiNX_Q8NFM7

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini17 – 299ExtracellularSequence analysisAdd BLAST283
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 739CytoplasmicSequence analysisAdd BLAST419

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)1 Publication
The disease is caused by mutations 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).
See also OMIM:615267
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_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 mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi54756
MalaCardsiIL17RD
MIMi615267 phenotype
OpenTargetsiENSG00000144730
Orphaneti478 Kallmann syndrome
PharmGKBiPA134993407

Polymorphism and mutation databases

BioMutaiIL17RD
DMDMi126302555

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 16Sequence analysisAdd BLAST16
ChainiPRO_000004187117 – 739Interleukin-17 receptor DAdd BLAST723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiQ8NFM7
PaxDbiQ8NFM7
PeptideAtlasiQ8NFM7
PRIDEiQ8NFM7
ProteomicsDBi73324
73325 [Q8NFM7-2]
73326 [Q8NFM7-3]
73327 [Q8NFM7-4]

PTM databases

iPTMnetiQ8NFM7
PhosphoSitePlusiQ8NFM7

Expressioni

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

BgeeiENSG00000144730 Expressed in 187 organ(s), highest expression level in metanephros
CleanExiHS_IL17RD
ExpressionAtlasiQ8NFM7 baseline and differential
GenevisibleiQ8NFM7 HS

Organism-specific databases

HPAiHPA039577
HPA043550

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 Publications

Protein-protein interaction databases

BioGridi120132, 7 interactors
STRINGi9606.ENSP00000296318

Structurei

3D structure databases

ProteinModelPortaliQ8NFM7
SMRiQ8NFM7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini355 – 509SEFIRPROSITE-ProRule annotationAdd BLAST155

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi695 – 700Poly-Ser6

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEYK Eukaryota
ENOG4110CUP LUCA
GeneTreeiENSGT00880000137935
HOVERGENiHBG081777
InParanoidiQ8NFM7
KOiK05167
OMAiCEGDVPG
OrthoDBiEOG091G01XZ
PhylomeDBiQ8NFM7
TreeFamiTF329644

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

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 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 'canonical' 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
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

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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]
UniGeneiHs.150725

Genome annotation databases

EnsembliENST00000296318; ENSP00000296318; ENSG00000144730 [Q8NFM7-1]
ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2]
ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2]
ENST00000640796; ENSP00000492817; ENSG00000144730 [Q8NFM7-2]
GeneIDi54756
KEGGihsa:54756
UCSCiuc003dil.3 human [Q8NFM7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
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]
UniGeneiHs.150725

3D structure databases

ProteinModelPortaliQ8NFM7
SMRiQ8NFM7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120132, 7 interactors
STRINGi9606.ENSP00000296318

PTM databases

iPTMnetiQ8NFM7
PhosphoSitePlusiQ8NFM7

Polymorphism and mutation databases

BioMutaiIL17RD
DMDMi126302555

Proteomic databases

EPDiQ8NFM7
PaxDbiQ8NFM7
PeptideAtlasiQ8NFM7
PRIDEiQ8NFM7
ProteomicsDBi73324
73325 [Q8NFM7-2]
73326 [Q8NFM7-3]
73327 [Q8NFM7-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296318; ENSP00000296318; ENSG00000144730 [Q8NFM7-1]
ENST00000320057; ENSP00000322250; ENSG00000144730 [Q8NFM7-2]
ENST00000463523; ENSP00000417516; ENSG00000144730 [Q8NFM7-2]
ENST00000640796; ENSP00000492817; ENSG00000144730 [Q8NFM7-2]
GeneIDi54756
KEGGihsa:54756
UCSCiuc003dil.3 human [Q8NFM7-1]

Organism-specific databases

CTDi54756
DisGeNETi54756
EuPathDBiHostDB:ENSG00000144730.16
GeneCardsiIL17RD
H-InvDBiHIX0003391
HGNCiHGNC:17616 IL17RD
HPAiHPA039577
HPA043550
MalaCardsiIL17RD
MIMi606807 gene
615267 phenotype
neXtProtiNX_Q8NFM7
OpenTargetsiENSG00000144730
Orphaneti478 Kallmann syndrome
PharmGKBiPA134993407
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEYK Eukaryota
ENOG4110CUP LUCA
GeneTreeiENSGT00880000137935
HOVERGENiHBG081777
InParanoidiQ8NFM7
KOiK05167
OMAiCEGDVPG
OrthoDBiEOG091G01XZ
PhylomeDBiQ8NFM7
TreeFamiTF329644

Enzyme and pathway databases

ReactomeiR-HSA-5674135 MAP2K and MAPK activation

Miscellaneous databases

ChiTaRSiIL17RD human
GenomeRNAii54756
PROiPR:Q8NFM7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144730 Expressed in 187 organ(s), highest expression level in metanephros
CleanExiHS_IL17RD
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
ProtoNetiSearch...

Entry informationi

Entry nameiI17RD_HUMAN
AccessioniPrimary (citable) accession number: Q8NFM7
Secondary accession number(s): Q2NKP7
, Q58EZ7, Q6RVF4, Q6UWI5, Q8N113, Q8NFS0, Q9UFA0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: February 20, 2007
Last modified: November 7, 2018
This is version 134 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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