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Protein

Interleukin-1 receptor accessory protein-like 1

Gene

IL1RAPL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169306-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Interleukin-1 receptor accessory protein-like 1
Short name:
IL-1-RAPL-1
Short name:
IL-1RAPL-1
Short name:
IL1RAPL-1
Alternative name(s):
Oligophrenin-4
Three immunoglobulin domain-containing IL-1 receptor-related 2
Short name:
TIGIRR-2
X-linked interleukin-1 receptor accessory protein-like 1
Gene namesi
Name:IL1RAPL1
Synonyms:OPHN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:5996. IL1RAPL1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 357ExtracellularSequence analysisAdd BLAST339
Transmembranei358 – 378HelicalSequence analysisAdd BLAST21
Topological domaini379 – 696CytoplasmicSequence analysisAdd BLAST318

GO - Cellular componenti

  • axon Source: UniProtKB-SubCell
  • cell surface Source: BHF-UCL
  • cytoplasm Source: UniProtKB-SubCell
  • dendrite Source: BHF-UCL
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB
  • postsynaptic membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 21 (MRX21)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
See also OMIM:300143

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi11141.
MalaCardsiIL1RAPL1.
MIMi300143. phenotype.
OpenTargetsiENSG00000169306.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA29812.

Polymorphism and mutation databases

BioMutaiIL1RAPL1.
DMDMi34222654.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001545419 – 696Interleukin-1 receptor accessory protein-like 1Add BLAST678

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi53 ↔ 118PROSITE-ProRule annotation
Glycosylationi63N-linked (GlcNAc...)Sequence analysis1
Glycosylationi122N-linked (GlcNAc...)Sequence analysis1
Glycosylationi138N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi164 ↔ 216PROSITE-ProRule annotation
Glycosylationi213N-linked (GlcNAc...)Sequence analysis1
Glycosylationi264N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi267 ↔ 334PROSITE-ProRule annotation
Glycosylationi331N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9NZN1.
PeptideAtlasiQ9NZN1.
PRIDEiQ9NZN1.

PTM databases

iPTMnetiQ9NZN1.
PhosphoSitePlusiQ9NZN1.

Expressioni

Tissue specificityi

Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver.2 Publications

Gene expression databases

BgeeiENSG00000169306.
CleanExiHS_IL1RAPL1.
ExpressionAtlasiQ9NZN1. baseline and differential.
GenevisibleiQ9NZN1. HS.

Organism-specific databases

HPAiHPA000564.

Interactioni

Subunit structurei

Homodimer. Interacts (calcium-independent) with NCS1. Interacts (via extracellular region) with PTPRD; this interaction is required for IL1RAPL1-mediated synapse formation.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116313. 2 interactors.
IntActiQ9NZN1. 1 interactor.
STRINGi9606.ENSP00000305200.

Structurei

Secondary structure

1696
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi405 – 410Combined sources6
Helixi426 – 431Combined sources6
Helixi433 – 440Combined sources8
Helixi449 – 452Combined sources4
Helixi459 – 468Combined sources10
Beta strandi470 – 477Combined sources8
Helixi479 – 483Combined sources5
Turni484 – 487Combined sources4
Helixi488 – 492Combined sources5
Helixi494 – 501Combined sources8
Beta strandi504 – 511Combined sources8
Helixi518 – 529Combined sources12
Beta strandi532 – 538Combined sources7
Helixi542 – 545Combined sources4
Beta strandi546 – 548Combined sources3
Helixi550 – 558Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T3GX-ray2.30A/B403-561[»]
4M92X-ray1.60B207-222[»]
ProteinModelPortaliQ9NZN1.
SMRiQ9NZN1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NZN1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 134Ig-like C2-type 1Add BLAST116
Domaini143 – 232Ig-like C2-type 2Add BLAST90
Domaini242 – 350Ig-like C2-type 3Add BLAST109
Domaini403 – 562TIRPROSITE-ProRule annotationAdd BLAST160

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni549 – 644Interaction with NCS11 PublicationAdd BLAST96

Sequence similaritiesi

Belongs to the interleukin-1 receptor family.Curated
Contains 1 TIR domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF3G. Eukaryota.
ENOG4110Z8K. LUCA.
GeneTreeiENSGT00760000119071.
HOGENOMiHOG000092977.
HOVERGENiHBG052148.
InParanoidiQ9NZN1.
KOiK05170.
OMAiKLLHPLE.
OrthoDBiEOG091G0GXW.
PhylomeDBiQ9NZN1.
TreeFamiTF333913.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.40.50.10140. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR015621. IL-1_rcpt_fam.
IPR013151. Immunoglobulin.
IPR000157. TIR_dom.
[Graphical view]
PANTHERiPTHR11890. PTHR11890. 1 hit.
PfamiPF00047. ig. 1 hit.
PF01582. TIR. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 3 hits.
SM00408. IGc2. 2 hits.
SM00255. TIR. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 3 hits.
SSF52200. SSF52200. 1 hit.
PROSITEiPS50835. IG_LIKE. 3 hits.
PS50104. TIR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

This entry describes 1 isoform i produced by alternative splicing. AlignAdd to basket

Note: A number of isoforms are produced.
Isoform 1 (identifier: Q9NZN1-1) [UniParc]FASTAAdd to basket

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
MKAPIPHLIL LYATFTQSLK VVTKRGSADG CTDWSIDIKK YQVLVGEPVR
60 70 80 90 100
IKCALFYGYI RTNYSLAQSA GLSLMWYKSS GPGDFEEPIA FDGSRMSKEE
110 120 130 140 150
DSIWFRPTLL QDSGLYACVI RNSTYCMKVS ISLTVGENDT GLCYNSKMKY
160 170 180 190 200
FEKAELSKSK EISCRDIEDF LLPTREPEIL WYKECRTKTW RPSIVFKRDT
210 220 230 240 250
LLIREVREDD IGNYTCELKY GGFVVRRTTE LTVTAPLTDK PPKLLYPMES
260 270 280 290 300
KLTIQETQLG DSANLTCRAF FGYSGDVSPL IYWMKGEKFI EDLDENRVWE
310 320 330 340 350
SDIRILKEHL GEQEVSISLI VDSVEEGDLG NYSCYVENGN GRRHASVLLH
360 370 380 390 400
KRELMYTVEL AGGLGAILLL LVCLVTIYKC YKIEIMLFYR NHFGAEELDG
410 420 430 440 450
DNKDYDAYLS YTKVDPDQWN QETGEEERFA LEILPDMLEK HYGYKLFIPD
460 470 480 490 500
RDLIPTGTYI EDVARCVDQS KRLIIVMTPN YVVRRGWSIF ELETRLRNML
510 520 530 540 550
VTGEIKVILI ECSELRGIMN YQEVEALKHT IKLLTVIKWH GPKCNKLNSK
560 570 580 590 600
FWKRLQYEMP FKRIEPITHE QALDVSEQGP FGELQTVSAI SMAAATSTAL
610 620 630 640 650
ATAHPDLRST FHNTYHSQMR QKHYYRSYEY DVPPTGTLPL TSIGNQHTYC
660 670 680 690
NIPMTLINGQ RPQTKSSREQ NPDEAHTNSA ILPLLPRETS ISSVIW
Length:696
Mass (Da):79,969
Last modified:August 22, 2003 - v2
Checksum:i9B7A0B503D73CCA9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062263379K → R.1 PublicationCorresponds to variant rs138267399dbSNPEnsembl.1
Natural variantiVAR_062264618Q → H.1 Publication1
Natural variantiVAR_062265637T → S.1 PublicationCorresponds to variant rs756672167dbSNPEnsembl.1
Natural variantiVAR_062266643I → V.1 PublicationCorresponds to variant rs746481663dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ243874 mRNA. Translation: CAB56046.1.
AF181284 mRNA. Translation: AAF59411.1.
AF284435 mRNA. Translation: AAG21369.1.
AB102650 mRNA. Translation: BAC81119.1.
AL031575
, AC005748, AC121343, AC129852, AL031466 Genomic DNA. Translation: CAI42035.1.
AL031466
, AC005748, AC121343, AC129852, AL031575 Genomic DNA. Translation: CAI42992.1.
CH471074 Genomic DNA. Translation: EAW99046.1.
BC126345 mRNA. Translation: AAI26346.1.
BC126347 mRNA. Translation: AAI26348.1.
CCDSiCCDS14218.1. [Q9NZN1-1]
RefSeqiNP_055086.1. NM_014271.3. [Q9NZN1-1]
XP_016884729.1. XM_017029240.1. [Q9NZN1-1]
UniGeneiHs.658912.

Genome annotation databases

EnsembliENST00000378993; ENSP00000368278; ENSG00000169306. [Q9NZN1-1]
GeneIDi11141.
KEGGihsa:11141.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ243874 mRNA. Translation: CAB56046.1.
AF181284 mRNA. Translation: AAF59411.1.
AF284435 mRNA. Translation: AAG21369.1.
AB102650 mRNA. Translation: BAC81119.1.
AL031575
, AC005748, AC121343, AC129852, AL031466 Genomic DNA. Translation: CAI42035.1.
AL031466
, AC005748, AC121343, AC129852, AL031575 Genomic DNA. Translation: CAI42992.1.
CH471074 Genomic DNA. Translation: EAW99046.1.
BC126345 mRNA. Translation: AAI26346.1.
BC126347 mRNA. Translation: AAI26348.1.
CCDSiCCDS14218.1. [Q9NZN1-1]
RefSeqiNP_055086.1. NM_014271.3. [Q9NZN1-1]
XP_016884729.1. XM_017029240.1. [Q9NZN1-1]
UniGeneiHs.658912.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T3GX-ray2.30A/B403-561[»]
4M92X-ray1.60B207-222[»]
ProteinModelPortaliQ9NZN1.
SMRiQ9NZN1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116313. 2 interactors.
IntActiQ9NZN1. 1 interactor.
STRINGi9606.ENSP00000305200.

PTM databases

iPTMnetiQ9NZN1.
PhosphoSitePlusiQ9NZN1.

Polymorphism and mutation databases

BioMutaiIL1RAPL1.
DMDMi34222654.

Proteomic databases

PaxDbiQ9NZN1.
PeptideAtlasiQ9NZN1.
PRIDEiQ9NZN1.

Protocols and materials databases

DNASUi11141.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378993; ENSP00000368278; ENSG00000169306. [Q9NZN1-1]
GeneIDi11141.
KEGGihsa:11141.

Organism-specific databases

CTDi11141.
DisGeNETi11141.
GeneCardsiIL1RAPL1.
HGNCiHGNC:5996. IL1RAPL1.
HPAiHPA000564.
MalaCardsiIL1RAPL1.
MIMi300143. phenotype.
300206. gene.
neXtProtiNX_Q9NZN1.
OpenTargetsiENSG00000169306.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA29812.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF3G. Eukaryota.
ENOG4110Z8K. LUCA.
GeneTreeiENSGT00760000119071.
HOGENOMiHOG000092977.
HOVERGENiHBG052148.
InParanoidiQ9NZN1.
KOiK05170.
OMAiKLLHPLE.
OrthoDBiEOG091G0GXW.
PhylomeDBiQ9NZN1.
TreeFamiTF333913.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169306-MONOMER.

Miscellaneous databases

ChiTaRSiIL1RAPL1. human.
EvolutionaryTraceiQ9NZN1.
GeneWikiiIL1RAPL1.
GenomeRNAii11141.
PROiQ9NZN1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169306.
CleanExiHS_IL1RAPL1.
ExpressionAtlasiQ9NZN1. baseline and differential.
GenevisibleiQ9NZN1. HS.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.40.50.10140. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR015621. IL-1_rcpt_fam.
IPR013151. Immunoglobulin.
IPR000157. TIR_dom.
[Graphical view]
PANTHERiPTHR11890. PTHR11890. 1 hit.
PfamiPF00047. ig. 1 hit.
PF01582. TIR. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 3 hits.
SM00408. IGc2. 2 hits.
SM00255. TIR. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 3 hits.
SSF52200. SSF52200. 1 hit.
PROSITEiPS50835. IG_LIKE. 3 hits.
PS50104. TIR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIRPL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZN1
Secondary accession number(s): A0AVG4, Q9UJ53
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: August 22, 2003
Last modified: November 2, 2016
This is version 146 of the entry and version 2 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.