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Q9NZN1

- IRPL1_HUMAN

UniProt

Q9NZN1 - IRPL1_HUMAN

Protein

Interleukin-1 receptor accessory protein-like 1

Gene

IL1RAPL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (22 Aug 2003)
      Previous versions | rss
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    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

    1. protein binding Source: UniProtKB
    2. receptor binding Source: BHF-UCL
    3. voltage-gated calcium channel activity Source: UniProtKB

    GO - Biological processi

    1. calcium ion transmembrane transport Source: GOC
    2. heterophilic cell-cell adhesion Source: BHF-UCL
    3. negative regulation of exocytosis Source: UniProtKB
    4. neuron differentiation Source: BHF-UCL
    5. positive regulation of dendrite morphogenesis Source: BHF-UCL
    6. presynaptic membrane assembly Source: BHF-UCL
    7. regulation of neuron projection development Source: UniProtKB
    8. signal transduction Source: InterPro

    Keywords - Molecular functioni

    Receptor

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:5996. IL1RAPL1.

    Subcellular locationi

    Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication. Cytoplasm 1 Publication. Cell projectionaxon By similarity. Cell projectiondendrite By similarity
    Note: May localize to the cell body and growth cones of dendrite-like processes.By similarity

    GO - Cellular componenti

    1. axon Source: UniProtKB-SubCell
    2. cell surface Source: BHF-UCL
    3. cytoplasm Source: UniProtKB-SubCell
    4. dendrite Source: BHF-UCL
    5. integral component of membrane Source: UniProtKB-KW
    6. plasma membrane Source: UniProtKB
    7. postsynaptic membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, X-linked 21 (MRX21) [MIM:300143]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 696678Interleukin-1 receptor accessory protein-like 1PRO_0000015454Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi53 ↔ 118PROSITE-ProRule annotation
    Glycosylationi63 – 631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi122 – 1221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi164 ↔ 216PROSITE-ProRule annotation
    Glycosylationi213 – 2131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi267 ↔ 334PROSITE-ProRule annotation
    Glycosylationi331 – 3311N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9NZN1.
    PaxDbiQ9NZN1.
    PeptideAtlasiQ9NZN1.
    PRIDEiQ9NZN1.

    PTM databases

    PhosphoSiteiQ9NZN1.

    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

    ArrayExpressiQ9NZN1.
    BgeeiQ9NZN1.
    CleanExiHS_IL1RAPL1.
    GenevestigatoriQ9NZN1.

    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

    Protein-protein interaction databases

    BioGridi116313. 2 interactions.
    IntActiQ9NZN1. 1 interaction.
    STRINGi9606.ENSP00000305200.

    Structurei

    Secondary structure

    1
    696
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi405 – 4106
    Helixi426 – 4316
    Helixi433 – 4408
    Helixi449 – 4524
    Helixi459 – 46810
    Beta strandi470 – 4778
    Helixi479 – 4835
    Turni484 – 4874
    Helixi488 – 4925
    Helixi494 – 5018
    Beta strandi504 – 5118
    Helixi518 – 52912
    Beta strandi532 – 5387
    Helixi542 – 5454
    Beta strandi546 – 5483
    Helixi550 – 5589

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1T3GX-ray2.30A/B403-561[»]
    4M92X-ray1.60B207-222[»]
    ProteinModelPortaliQ9NZN1.
    SMRiQ9NZN1. Positions 31-349, 403-561.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NZN1.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 357339ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini379 – 696318CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei358 – 37821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini19 – 134116Ig-like C2-type 1Add
    BLAST
    Domaini143 – 23290Ig-like C2-type 2Add
    BLAST
    Domaini242 – 350109Ig-like C2-type 3Add
    BLAST
    Domaini403 – 562160TIRPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni549 – 64496Interaction with NCS1Add
    BLAST

    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

    eggNOGiNOG41227.
    HOGENOMiHOG000092977.
    HOVERGENiHBG052148.
    InParanoidiQ9NZN1.
    KOiK05170.
    OMAiKLLHPLE.
    OrthoDBiEOG7CVPXJ.
    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.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR015621. IL-1_rcpt_fam.
    IPR000157. TIR_dom.
    [Graphical view]
    PANTHERiPTHR11890. PTHR11890. 1 hit.
    PfamiPF07679. I-set. 1 hit.
    PF01582. TIR. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 2 hits.
    SM00408. IGc2. 1 hit.
    SM00255. TIR. 1 hit.
    [Graphical view]
    SUPFAMiSSF52200. 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. Align

    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

    MKAPIPHLIL LYATFTQSLK VVTKRGSADG CTDWSIDIKK YQVLVGEPVR    50
    IKCALFYGYI RTNYSLAQSA GLSLMWYKSS GPGDFEEPIA FDGSRMSKEE 100
    DSIWFRPTLL QDSGLYACVI RNSTYCMKVS ISLTVGENDT GLCYNSKMKY 150
    FEKAELSKSK EISCRDIEDF LLPTREPEIL WYKECRTKTW RPSIVFKRDT 200
    LLIREVREDD IGNYTCELKY GGFVVRRTTE LTVTAPLTDK PPKLLYPMES 250
    KLTIQETQLG DSANLTCRAF FGYSGDVSPL IYWMKGEKFI EDLDENRVWE 300
    SDIRILKEHL GEQEVSISLI VDSVEEGDLG NYSCYVENGN GRRHASVLLH 350
    KRELMYTVEL AGGLGAILLL LVCLVTIYKC YKIEIMLFYR NHFGAEELDG 400
    DNKDYDAYLS YTKVDPDQWN QETGEEERFA LEILPDMLEK HYGYKLFIPD 450
    RDLIPTGTYI EDVARCVDQS KRLIIVMTPN YVVRRGWSIF ELETRLRNML 500
    VTGEIKVILI ECSELRGIMN YQEVEALKHT IKLLTVIKWH GPKCNKLNSK 550
    FWKRLQYEMP FKRIEPITHE QALDVSEQGP FGELQTVSAI SMAAATSTAL 600
    ATAHPDLRST FHNTYHSQMR QKHYYRSYEY DVPPTGTLPL TSIGNQHTYC 650
    NIPMTLINGQ RPQTKSSREQ NPDEAHTNSA ILPLLPRETS ISSVIW 696
    Length:696
    Mass (Da):79,969
    Last modified:August 22, 2003 - v2
    Checksum:i9B7A0B503D73CCA9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti379 – 3791K → R.1 Publication
    Corresponds to variant rs138267399 [ dbSNP | Ensembl ].
    VAR_062263
    Natural varianti618 – 6181Q → H.1 Publication
    VAR_062264
    Natural varianti637 – 6371T → S.1 Publication
    VAR_062265
    Natural varianti643 – 6431I → V.1 Publication
    VAR_062266

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005274498.1. XM_005274441.1. [Q9NZN1-1]
    UniGeneiHs.658912.

    Genome annotation databases

    EnsembliENST00000302196; ENSP00000305200; ENSG00000169306. [Q9NZN1-1]
    ENST00000378993; ENSP00000368278; ENSG00000169306. [Q9NZN1-1]
    GeneIDi11141.
    KEGGihsa:11141.
    UCSCiuc004dby.2. human. [Q9NZN1-1]

    Polymorphism databases

    DMDMi34222654.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS14218.1. [Q9NZN1-1 ]
    RefSeqi NP_055086.1. NM_014271.3. [Q9NZN1-1 ]
    XP_005274498.1. XM_005274441.1. [Q9NZN1-1 ]
    UniGenei Hs.658912.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1T3G X-ray 2.30 A/B 403-561 [» ]
    4M92 X-ray 1.60 B 207-222 [» ]
    ProteinModelPortali Q9NZN1.
    SMRi Q9NZN1. Positions 31-349, 403-561.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116313. 2 interactions.
    IntActi Q9NZN1. 1 interaction.
    STRINGi 9606.ENSP00000305200.

    PTM databases

    PhosphoSitei Q9NZN1.

    Polymorphism databases

    DMDMi 34222654.

    Proteomic databases

    MaxQBi Q9NZN1.
    PaxDbi Q9NZN1.
    PeptideAtlasi Q9NZN1.
    PRIDEi Q9NZN1.

    Protocols and materials databases

    DNASUi 11141.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302196 ; ENSP00000305200 ; ENSG00000169306 . [Q9NZN1-1 ]
    ENST00000378993 ; ENSP00000368278 ; ENSG00000169306 . [Q9NZN1-1 ]
    GeneIDi 11141.
    KEGGi hsa:11141.
    UCSCi uc004dby.2. human. [Q9NZN1-1 ]

    Organism-specific databases

    CTDi 11141.
    GeneCardsi GC0XP028605.
    HGNCi HGNC:5996. IL1RAPL1.
    HPAi HPA000564.
    MIMi 300143. phenotype.
    300206. gene.
    neXtProti NX_Q9NZN1.
    Orphaneti 777. X-linked non-syndromic intellectual disability.
    PharmGKBi PA29812.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41227.
    HOGENOMi HOG000092977.
    HOVERGENi HBG052148.
    InParanoidi Q9NZN1.
    KOi K05170.
    OMAi KLLHPLE.
    OrthoDBi EOG7CVPXJ.
    PhylomeDBi Q9NZN1.
    TreeFami TF333913.

    Miscellaneous databases

    ChiTaRSi IL1RAPL1. human.
    EvolutionaryTracei Q9NZN1.
    GeneWikii IL1RAPL1.
    GenomeRNAii 11141.
    NextBioi 42348.
    PROi Q9NZN1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NZN1.
    Bgeei Q9NZN1.
    CleanExi HS_IL1RAPL1.
    Genevestigatori Q9NZN1.

    Family and domain databases

    Gene3Di 2.60.40.10. 3 hits.
    3.40.50.10140. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR015621. IL-1_rcpt_fam.
    IPR000157. TIR_dom.
    [Graphical view ]
    PANTHERi PTHR11890. PTHR11890. 1 hit.
    Pfami PF07679. I-set. 1 hit.
    PF01582. TIR. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 2 hits.
    SM00408. IGc2. 1 hit.
    SM00255. TIR. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52200. SSF52200. 1 hit.
    PROSITEi PS50835. IG_LIKE. 3 hits.
    PS50104. TIR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN NONSPECIFIC XLMR, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
      Tissue: Fetal brain.
    2. "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.3-Xp21.3 mental retardation."
      Jin H., Gardner R.J., Viswesvaraiah R., Muntoni F., Roberts R.G.
      Eur. J. Hum. Genet. 8:87-94(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN MRX21.
    3. "Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling."
      Born T.L., Smith D.E., Garka K.E., Renshaw B.R., Bertles J.S., Sims J.E.
      J. Biol. Chem. 275:29946-29954(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Brain and Testis.
    4. "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees."
      Kitano T., Schwarz C., Nickel B., Paeaebo S.
      Mol. Biol. Evol. 20:1281-1289(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    8. "IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis."
      Bahi N., Friocourt G., Carrie A., Graham M.E., Weiss J.L., Chafey P., Fauchereau F., Burgoyne R.D., Chelly J.
      Hum. Mol. Genet. 12:1415-1425(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NCS1.
    9. "A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family."
      Tabolacci E., Pomponi M.G., Pietrobono R., Terracciano A., Chiurazzi P., Neri G.
      Am. J. Med. Genet. A 140:482-487(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MRX21.
    10. Cited for: VARIANTS ARG-379; HIS-618; SER-637 AND VAL-643.
    11. "Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL."
      Khan J.A., Brint E.K., O'Neill L.A.J., Tong L.
      J. Biol. Chem. 279:31664-31670(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 403-561, FUNCTION, DIMERIZATION.

    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: October 1, 2014
    This is version 129 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

    External Data

    Dasty 3