LOCUS       NM_017416               3101 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens interleukin 1 receptor accessory protein like 2
            (IL1RAPL2), mRNA.
ACCESSION   NM_017416
VERSION     NM_017416.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3101)
  AUTHORS   Nimma,S., Gu,W., Manik,M.K., Ve,T., Nanson,J.D. and Kobe,B.
  TITLE     Crystal structure of the Toll/interleukin-1 receptor (TIR) domain
            of IL-1R10 provides structural insights into TIR domain signalling
  JOURNAL   FEBS Lett 596 (7), 886-897 (2022)
   PUBMED   35038778
  REMARK    GeneRIF: Crystal structure of the Toll/interleukin-1 receptor (TIR)
            domain of IL-1R10 provides structural insights into TIR domain
            signalling.
REFERENCE   2  (bases 1 to 3101)
  AUTHORS   Valnegri,P., Montrasio,C., Brambilla,D., Ko,J., Passafaro,M. and
            Sala,C.
  TITLE     The X-linked intellectual disability protein IL1RAPL1 regulates
            excitatory synapse formation by binding PTPdelta and RhoGAP2
  JOURNAL   Hum Mol Genet 20 (24), 4797-4809 (2011)
   PUBMED   21926414
REFERENCE   3  (bases 1 to 3101)
  AUTHORS   Kantojarvi,K., Kotala,I., Rehnstrom,K., Ylisaukko-Oja,T.,
            Vanhala,R., von Wendt,T.N., von Wendt,L. and Jarvela,I.
  TITLE     Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6,
            ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders
            (ASD)
  JOURNAL   Autism Res 4 (3), 228-233 (2011)
   PUBMED   21384559
  REMARK    GeneRIF: A total of six novel and 11 known single nucleotide
            polymorphisms were identified. Further studies are warranted to
            analyze the candidate genes at Xq11.1-q21.33.
REFERENCE   4  (bases 1 to 3101)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3101)
  AUTHORS   Grundtman,C., Salomonsson,S., Dorph,C., Bruton,J., Andersson,U. and
            Lundberg,I.E.
  TITLE     Immunolocalization of interleukin-1 receptors in the sarcolemma and
            nuclei of skeletal muscle in patients with idiopathic inflammatory
            myopathies
  JOURNAL   Arthritis Rheum 56 (2), 674-687 (2007)
   PUBMED   17265504
  REMARK    GeneRIF: The increased expression of IL-1 receptor and the
            colocalization with reciprocal ligands in patients with myositis
            but not in healthy controls support the hypothesis of a crucial
            role of IL-1 in the pathogenesis of polymyositis and
            dermatomyositis.
REFERENCE   6  (bases 1 to 3101)
  AUTHORS   Libra,M., Mangano,K., Anzaldi,M., Quattrocchi,C., Donia,M., di
            Marco,R., Signorelli,S., Scalia,G., Zignego,A.L., de Re,V.,
            Mazzarino,M.C. and Nicoletti,F.
  TITLE     Analysis of interleukin (IL)-1beta IL-1 receptor antagonist,
            soluble IL-1 receptor type II and IL-1 accessory protein in
            HCV-associated lymphoproliferative disorders
  JOURNAL   Oncol Rep 15 (5), 1305-1308 (2006)
   PUBMED   16596202
  REMARK    GeneRIF: Increased circulating levels of IL-1 accessory protein is
            associated with Hepatitis C virus positive patients
REFERENCE   7  (bases 1 to 3101)
  AUTHORS   Ferrante,M.I., Ghiani,M., Bulfone,A. and Franco,B.
  TITLE     IL1RAPL2 maps to Xq22 and is specifically expressed in the central
            nervous system
  JOURNAL   Gene 275 (2), 217-221 (2001)
   PUBMED   11587848
REFERENCE   8  (bases 1 to 3101)
  AUTHORS   Sana,T.R., Debets,R., Timans,J.C., Bazan,J.F. and Kastelein,R.A.
  TITLE     Computational identification, cloning, and characterization of
            IL-1R9, a novel interleukin-1 receptor-like gene encoded over an
            unusually large interval of human chromosome Xq22.2-q22.3
  JOURNAL   Genomics 69 (2), 252-262 (2000)
   PUBMED   11031108
REFERENCE   9  (bases 1 to 3101)
  AUTHORS   Born,T.L., Smith,D.E., Garka,K.E., Renshaw,B.R., Bertles,J.S. and
            Sims,J.E.
  TITLE     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
  JOURNAL   J Biol Chem 275 (39), 29946-29954 (2000)
   PUBMED   10882729
REFERENCE   10 (bases 1 to 3101)
  AUTHORS   Jin,H., Gardner,R.J., Viswesvaraiah,R., Muntoni,F. and Roberts,R.G.
  TITLE     Two novel members of the interleukin-1 receptor gene family, one
            deleted in Xp22.1-Xp21.3 mental retardation
  JOURNAL   Eur J Hum Genet 8 (2), 87-94 (2000)
   PUBMED   10757639
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133381.6 and AJ272208.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_017416.1.
            
            Summary: The protein encoded by this gene is a member of the
            interleukin 1 receptor family. This protein is similar to the
            interleukin 1 accessory proteins, and is most closely related to
            interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This
            gene and IL1RAPL1 are located at a region on chromosome X that is
            associated with X-linked non-syndromic cognitive disability.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.140792.1, AK290196.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMN03267759
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372582.6/ ENSP00000361663.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               AL133381.6         28447-28562
            117-3101            AJ272208.1         1-2985
FEATURES             Location/Qualifiers
     source          1..3101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     gene            1..3101
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /note="interleukin 1 receptor accessory protein like 2"
                     /db_xref="GeneID:26280"
                     /db_xref="HGNC:HGNC:5997"
                     /db_xref="MIM:300277"
     exon            1..853
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            854..954
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             873..2933
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /EC_number="3.2.2.6"
                     /note="interleukin 1 receptor 9; X-linked interleukin-1
                     receptor accessory protein-like 2; IL-1 receptor accessory
                     protein-like 2; IL-1R-9; IL1RAPL-2-related protein; three
                     immunoglobulin domain-containing IL-1 receptor-related 1"
                     /codon_start=1
                     /product="X-linked interleukin-1 receptor accessory
                     protein-like 2 precursor"
                     /protein_id="NP_059112.1"
                     /db_xref="CCDS:CCDS14517.1"
                     /db_xref="GeneID:26280"
                     /db_xref="HGNC:HGNC:5997"
                     /db_xref="MIM:300277"
                     /translation="MKPPFLLALVVCSVVSTNLKMVSKRNSVDGCIDWSVDLKTYMAL
                     AGEPVRVKCALFYSYIRTNYSTAQSTGLRLMWYKNKGDLEEPIIFSEVRMSKEEDSIW
                     FHSAEAQDSGFYTCVLRNSTYCMKVSMSLTVAENESGLCYNSRIRYLEKSEVTKRKEI
                     SCPDMDDFKKSDQEPDVVWYKECKPKMWRSIIIQKGNALLIQEVQEEDGGNYTCELKY
                     EGKLVRRTTELKVTALLTDKPPKPLFPMENQPSVIDVQLGKPLNIPCKAFFGFSGESG
                     PMIYWMKGEKFIEELAGHIREGEIRLLKEHLGEKEVELALIFDSVVEADLANYTCHVE
                     NRNGRKHASVLLRKKDLIYKIELAGGLGAIFLLLVLLVVIYKCYNIELMLFYRQHFGA
                     DETNDDNKEYDAYLSYTKVDQDTLDCDNPEEEQFALEVLPDVLEKHYGYKLFIPERDL
                     IPSGTYMEDLTRYVEQSRRLIIVLTPDYILRRGWSIFELESRLHNMLVSGEIKVILIE
                     CTELKGKVNCQEVESLKRSIKLLSLIKWKGSKSSKLNSKFWKHLVYEMPIKKKEMLPR
                     CHVLDSAEQGLFGELQPIPSIAMTSTSATLVSSQADLPEFHPSDSMQIRHCCRGYKHE
                     IPATTLPVPSLGNHHTYCNLPLTLLNGQLPLNNTLKDTQEFHRNSSLLPLSSKELSFT
                     SDIW"
     exon            955..1228
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1415
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1569
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..1644
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1645..1774
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..1920
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2064
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..2235
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2236..3101
                     /gene="IL1RAPL2"
                     /gene_synonym="IL-1R9; IL1R9; IL1RAPL-2; TIGIRR-1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtcagccag gaggctccaa actgttagcg acaaaaacgc agctctcggt cactcccact
       61 accctcccac ccgcactcca ggcatatttt ggaggcggca gcagcggtgg caggatgtga
      121 ggcgagcctg gagctcattt ccaggcgccc ttccctcttc ggaactaagg gagacttgtg
      181 ggcttttgca cactggctgt agggttcccg ggaaagactg gagcagcgaa caggagggag
      241 agaggtggac aggcagagtc tgcacctgcc gcctgcacct ccgttagggc gacagggcag
      301 ctggtgtttc gctcctggag tgtgcctacc tcgcaagggg ggcgagggcc acaggctgag
      361 gcgcccgcgt cccggagtgc accgcttggc cgaggcaagg tgttgctggg gcaaggctgc
      421 tccgaagcga agtcgcgcaa aaggaagagt ctgggaggca ggcgacttag gagagtctag
      481 tcactgagag acagaggcag catctgccat tctaactacg gagctgagta atttagaaac
      541 cctccttaac tctccctttc cagctctccc caaagtccac agaagctctg ctgaactcta
      601 gaaatcttcc ctggctgggg ggaagtttac tagtatcctc tttggctaag acagggagtg
      661 gaaaaaacag gcggggctgt actgtccgct gtttggggag acgcggtctt cctcgcgccc
      721 ccttcagcca ctccgactgc ctgggaagtc ccagcccgcg ctctccggaa cccggctcgc
      781 cgtctcgccc tggacatgga actacgcatc tgagacctgc tggacgtttt gctggccgtt
      841 ttgcaagact cagctgtcaa gaaaagtgaa ggatgaagcc accatttctt ttggcccttg
      901 tggtctgttc tgtagtcagc acaaatctga agatggtgtc aaagagaaat tctgtggatg
      961 gctgcattga ctggtcagtg gatctcaaga catacatggc tttggcaggt gaaccagtcc
     1021 gagtgaaatg tgcccttttc tacagttata ttcgtaccaa ctatagcacg gcccagagca
     1081 ctgggctcag gcttatgtgg tacaaaaaca aaggtgattt ggaagagccc atcatctttt
     1141 cagaggtcag gatgagcaaa gaggaagatt caatatggtt tcactcagct gaggcacaag
     1201 acagtggatt ctacacttgt gttttaagaa actcaacata ttgcatgaag gtgtcaatgt
     1261 ccttgactgt tgcagagaat gaatcaggcc tgtgctacaa cagcaggatc cgctatttag
     1321 aaaaatctga agtcactaaa agaaaggaga tctcctgtcc agacatggat gactttaaaa
     1381 agtccgatca ggagcctgat gttgtgtggt ataaggaatg caagccaaaa atgtggagaa
     1441 gcataataat acagaaagga aatgctcttc tgatccaaga agttcaagaa gaagatggag
     1501 gaaattacac atgtgaactt aaatatgaag gaaaacttgt aagacgaaca actgaattga
     1561 aagttacagc tttactcaca gacaagcctc ccaagccatt gttccccatg gagaatcagc
     1621 caagtgttat agatgtccag ctgggtaagc ctctgaacat cccctgcaaa gcattcttcg
     1681 gattcagtgg agagtctggg ccaatgatct actggatgaa aggagaaaag tttattgaag
     1741 aactggcagg tcacattaga gaaggtgaaa taaggcttct caaagagcat cttggagaaa
     1801 aagaagttga attggcactc atctttgact cagttgtgga agctgacctg gcgaattata
     1861 cctgccatgt tgaaaaccga aatggacgga aacatgccag tgttttgctg cgtaaaaagg
     1921 atttaatcta taaaattgag cttgcagggg gcctgggagc aatcttcctc ctccttgtac
     1981 tgctggtggt catttacaaa tgctacaaca ttgaattgat gctcttctac aggcagcact
     2041 ttggagctga tgaaactaat gatgacaaca aggaatatga tgcctatctc tcttacacaa
     2101 aagtggacca agatacttta gactgtgaca atcctgaaga agagcagttt gctcttgaag
     2161 tactgccaga tgtcctggaa aaacactatg gatataaact cttcatccca gaaagagacc
     2221 tgattccaag tggaacatac atggaagatc tcacaagata tgttgaacaa agcagaagac
     2281 ttattatcgt gctaactcca gactatattc tcagacgggg atggagtatt ttcgaactgg
     2341 aaagcagact ccataacatg ctagtcagtg gagaaatcaa agtgattttg attgagtgta
     2401 cagaattaaa agggaaagtg aattgccagg aagtggaatc actaaagcgt agcatcaaac
     2461 ttctgtccct gatcaagtgg aagggatcca aaagcagcaa attaaattct aagttttgga
     2521 agcacttagt atatgaaatg cccatcaaga aaaaagaaat gctacctcgg tgccatgttc
     2581 tggactccgc agaacaagga ctttttggag aactccagcc tataccctct attgccatga
     2641 ccagtacttc agccactctg gtgtcatctc aggctgatct ccctgaattc cacccttcag
     2701 attcaatgca aatcaggcac tgttgcagag gttataaaca tgagatacca gccacgacct
     2761 tgccagtacc ttccttaggc aaccaccata cttattgtaa cctgcctctg acgctactca
     2821 acggacagct accccttaat aacaccctga aagataccca ggaatttcac aggaacagtt
     2881 ctttgctgcc tttatcctcc aaagagctta gctttaccag tgatatttgg tagtgaaaaa
     2941 tctgaattcc tctgaacagc tagataagca tagagaattt ctgttatacc aagcataaag
     3001 tacacctaat aacgttgtgt taaaaaagtg tttgaagaaa aaggtacaaa aatggctttt
     3061 atacttaaat atttttgttt acatttccag aatagtgggg g
//
