LOCUS       NM_014271               3615 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens interleukin 1 receptor accessory protein like 1
            (IL1RAPL1), mRNA.
ACCESSION   NM_014271
VERSION     NM_014271.4
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 3615)
  AUTHORS   Yu,M., Zhang,Q., Wan,L., Wang,S., Zou,L., Chen,Z. and Li,F.
  TITLE     IL-1R8 expression in DLBCL regulates NK cell recruitment and
            influences patient prognosis
  JOURNAL   Funct Integr Genomics 23 (4), 328 (2023)
   PUBMED   37907630
  REMARK    GeneRIF: IL-1R8 expression in DLBCL regulates NK cell recruitment
            and influences patient prognosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3615)
  AUTHORS   Kanwal,A., Pardo,J.V. and Naz,S.
  TITLE     RGS3 and IL1RAPL1 missense variants implicate defective
            neurotransmission in early-onset inherited schizophrenias
  JOURNAL   J Psychiatry Neurosci 47 (6), E379-E390 (2022)
   PUBMED   36318984
  REMARK    GeneRIF: RGS3 and IL1RAPL1 missense variants implicate defective
            neurotransmission in early-onset inherited schizophrenias.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3615)
  AUTHORS   Montani,C., Gritti,L., Beretta,S., Verpelli,C. and Sala,C.
  TITLE     The Synaptic and Neuronal Functions of the X-Linked Intellectual
            Disability Protein Interleukin-1 Receptor Accessory Protein Like 1
            (IL1RAPL1)
  JOURNAL   Dev Neurobiol 79 (1), 85-95 (2019)
   PUBMED   30548231
  REMARK    GeneRIF: The mutations and deletion of IL1RAPL1 gene are related to
            different phenotypes (even in the same family and in patients with
            the same mutation) including different severity of Intellectual
            Disability.
            Review article
REFERENCE   4  (bases 1 to 3615)
  AUTHORS   Sun,Z. and Chadwick,B.P.
  TITLE     Loss of SETDB1 decompacts the inactive X chromosome in part through
            reactivation of an enhancer in the IL1RAPL1 gene
  JOURNAL   Epigenetics Chromatin 11 (1), 45 (2018)
   PUBMED   30103804
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3615)
  AUTHORS   Li,C., Shen,Y., Wang,J., Ma,Z.X., Ke,X., Wang,Z.H., Hong,S.L. and
            Hu,G.H.
  TITLE     Increased expression of IL-1R8 and a possible immunomodulatory role
            of its ligand IL-37 in allergic rhinitis patients
  JOURNAL   Int Immunopharmacol 60, 152-159 (2018)
   PUBMED   29730558
  REMARK    GeneRIF: Our study revealed that the expression of IL-1R8
            significantly increased on in vitro-activated CD4+ T cells and was
            markedly higher on CD4+ T cells from allergic rhinitis patients
            than on cells from healthy controls.
REFERENCE   6  (bases 1 to 3615)
  AUTHORS   Tranebjaerg,L., Lubs,H.A., Borghgraef,M., Brown,W.T., Fisch,G.,
            Fryns,J.P., Hagerman,R., Jacobs,P.A., Mandel,J.L., Mulley,J.,
            Oostra,B., Schwartz,C., Sherman,S., Willard,H. and Willems,P.
  TITLE     Seventh International Workshop on the Fragile X and X-linked Mental
            Retardation
  JOURNAL   Am J Med Genet 64 (1), 1-14 (1996)
   PUBMED   8826442
REFERENCE   7  (bases 1 to 3615)
  AUTHORS   Liu,C., Chalmers,D., Maki,R. and De Souza,E.B.
  TITLE     Rat homolog of mouse interleukin-1 receptor accessory protein:
            cloning, localization and modulation studies
  JOURNAL   J Neuroimmunol 66 (1-2), 41-48 (1996)
   PUBMED   8964912
REFERENCE   8  (bases 1 to 3615)
  AUTHORS   Kozak,L., Chiurazzi,P., Genuardi,M., Pomponi,M.G., Zollino,M. and
            Neri,G.
  TITLE     Mapping of a gene for non-specific X linked mental retardation:
            evidence for linkage to chromosomal region Xp21.1-Xp22.3
  JOURNAL   J Med Genet 30 (10), 866-869 (1993)
   PUBMED   8230164
REFERENCE   9  (bases 1 to 3615)
  AUTHORS   Achermann,J.C. and Vilain,E.J.
  TITLE     NR0B1-Related Adrenal Hypoplasia Congenita
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301604
REFERENCE   10 (bases 1 to 3615)
  AUTHORS   Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112495.2, AJ243874.1,
            DN994486.1, AF284435.1 and AC005748.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014271.3.
            
            Summary: The protein encoded by this gene is a member of the
            interleukin 1 receptor family and is similar to the interleukin 1
            accessory proteins. This protein has an N-terminal signal peptide,
            three extracellular immunoglobulin Ig-like domains, a transmembrane
            domain, an intracellular Toll/IL-1R domain, and a long C-terminal
            tail which interacts with multiple signalling molecules. This gene
            is located at a region on chromosome X that is associated with a
            non-syndromic form of X-linked intellectual disability. Deletions
            and mutations in this gene were found in patients with intellectual
            disability. This gene is expressed at a high level in post-natal
            brain structures involved in the hippocampal memory system, which
            suggests a specialized role in the physiological processes
            underlying memory and learning abilities, and plays a role in
            synapse formation and stabilization. [provided by RefSeq, Jul
            2017].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ243874.1, SRR1803611.4925.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378993.6/ ENSP00000368278.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-118               AC112495.2         48294-48411
            119-324             AJ243874.1         3-208
            325-328             AC112495.2         48618-48621
            329-607             AJ243874.1         213-491
            608-1008            DN994486.1         205-605
            1009-2797           AF284435.1         470-2258
            2798-3615           AC005748.10        76525-77342
FEATURES             Location/Qualifiers
     source          1..3615
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.3-p21.2"
     gene            1..3615
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /note="interleukin 1 receptor accessory protein like 1"
                     /db_xref="GeneID:11141"
                     /db_xref="HGNC:HGNC:5996"
                     /db_xref="MIM:300206"
     exon            1..602
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            603..708
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             627..2717
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /EC_number="3.2.2.6"
                     /note="X-linked interleukin-1 receptor accessory
                     protein-like 1; oligophrenin-4; interleukin 1 receptor-8;
                     three immunoglobulin domain-containing IL-1
                     receptor-related 2"
                     /codon_start=1
                     /product="interleukin-1 receptor accessory protein-like 1
                     precursor"
                     /protein_id="NP_055086.1"
                     /db_xref="CCDS:CCDS14218.1"
                     /db_xref="GeneID:11141"
                     /db_xref="HGNC:HGNC:5996"
                     /db_xref="MIM:300206"
                     /translation="MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVL
                     VGEPVRIKCALFYGYIRTNYSLAQSAGLSLMWYKSSGPGDFEEPIAFDGSRMSKEEDS
                     IWFRPTLLQDSGLYACVIRNSTYCMKVSISLTVGENDTGLCYNSKMKYFEKAELSKSK
                     EISCRDIEDFLLPTREPEILWYKECRTKTWRPSIVFKRDTLLIREVREDDIGNYTCEL
                     KYGGFVVRRTTELTVTAPLTDKPPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGD
                     VSPLIYWMKGEKFIEDLDENRVWESDIRILKEHLGEQEVSISLIVDSVEEGDLGNYSC
                     YVENGNGRRHASVLLHKRELMYTVELAGGLGAILLLLVCLVTIYKCYKIEIMLFYRNH
                     FGAEELDGDNKDYDAYLSYTKVDPDQWNQETGEEERFALEILPDMLEKHYGYKLFIPD
                     RDLIPTGTYIEDVARCVDQSKRLIIVMTPNYVVRRGWSIFELETRLRNMLVTGEIKVI
                     LIECSELRGIMNYQEVEALKHTIKLLTVIKWHGPKCNKLNSKFWKRLQYEMPFKRIEP
                     ITHEQALDVSEQGPFGELQTVSAISMAAATSTALATAHPDLRSTFHNTYHSQMRQKHY
                     YRSYEYDVPPTGTLPLTSIGNQHTYCNIPMTLINGQRPQTKSSREQNPDEAHTNSAIL
                     PLLPRETSISSVIW"
     exon            709..988
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1175
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1329
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1404
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1537
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..1683
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1827
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1828..1998
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..3615
                     /gene="IL1RAPL1"
                     /gene_synonym="IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL;
                     IL1RAPL-1; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 actgtacaag gaaaaccccg tcggatctgt tattgcggga tacttgtgaa atatacatag
       61 gattctttct tatggctgca tcccggatct ggaaatttta cttggggacc aggaggattt
      121 gaaaggctgc atgtactcag aagatttgca agcaacactc caattcttgt catagagctc
      181 gcagacttct cacttatcgg cttttttcct tccttatttt ttaagaatta ttcttatttt
      241 cccctctctt tttctgctct ctcctctctc agtctctcct tttctatctg cctcttcatt
      301 tttctcctag tctgtttttt tttttcctgc tctgcacctg gattgtatct tcagcaaaca
      361 atcgggcact ttgagaacta actggagaca gtcttgtagg gaagatctgt atggaattat
      421 ctgcttttat ggtgaacttg gcatttgtga atgggaatct tgttcacaat attaattgct
      481 agcaaaaaca agaaaaagaa cacaggagta aaacgtggat ttttctgaat acgcattgtg
      541 atgaccagca attaccttac cgactaatat ccagaggaga ataatttgga agactgttgt
      601 ggggaacggc ctttaagagc tggaagatga aagctccgat tccacacttg attctcttat
      661 acgctacttt tactcagagt ttgaaggttg tgaccaaaag aggctccgcc gatggatgca
      721 ctgactggtc tatcgatatc aagaaatatc aagttttggt gggagagcct gttcgaatca
      781 aatgtgcact cttttatggt tatatcagaa caaattactc ccttgcccaa agtgctggac
      841 tcagtttgat gtggtacaaa agttctggtc ctggagactt tgaagagcca atagcctttg
      901 acggaagtag aatgagcaaa gaagaagact ccatttggtt ccggccaaca ttgctacagg
      961 acagtggtct ctacgcctgt gtcatcagaa actccactta ctgtatgaaa gtatccatct
     1021 cactgacagt gggtgaaaat gacactggac tctgctataa ttccaagatg aagtattttg
     1081 aaaaagctga acttagcaaa agcaaggaaa tttcatgccg tgacatagag gattttctac
     1141 tgccaaccag agaacctgaa atcctttggt acaaggaatg caggacaaaa acatggaggc
     1201 caagtattgt attcaaaaga gatactctgc ttataagaga agtcagagaa gatgacattg
     1261 gaaattatac ctgtgaatta aaatatggag gctttgttgt gagaagaact actgaattaa
     1321 ctgttacagc ccctctgact gataagccac ccaagctttt gtatcctatg gaaagtaaac
     1381 tgacaattca ggagacccag ctgggtgact ctgctaatct aacctgcaga gctttctttg
     1441 ggtacagcgg agatgtcagt cctttaattt actggatgaa aggagaaaaa tttattgaag
     1501 atctggatga aaatcgagtt tgggaaagtg acattagaat tcttaaggag catcttgggg
     1561 aacaggaagt ttccatctca ttaattgtgg actctgtgga agaaggtgac ttgggaaatt
     1621 actcctgtta tgttgaaaat ggaaatggac gtcgacacgc cagcgttctc cttcataaac
     1681 gagagctaat gtacacagtg gaacttgctg gaggccttgg tgctatactc ttgctgcttg
     1741 tatgtttggt gaccatctac aagtgttaca agatagaaat catgctcttc tacaggaatc
     1801 attttggagc tgaagagctc gatggagaca ataaagatta tgatgcatac ttatcataca
     1861 ccaaagtgga tcctgaccag tggaatcaag agactgggga agaagaacgt tttgcccttg
     1921 aaatcctacc tgatatgctt gaaaagcatt atggatataa gttgtttata ccagatagag
     1981 atttaatccc aactggaaca tacattgaag atgtggcaag atgtgtagat caaagcaagc
     2041 ggctgattat tgtcatgacc ccaaattacg tagttagaag gggctggagc atctttgagc
     2101 tggaaaccag acttcgaaat atgcttgtga ctggagaaat taaagtgatt ctaattgaat
     2161 gcagtgaact gagaggaatt atgaactacc aggaggtgga ggccctgaag cacaccatca
     2221 agctcctgac ggtcattaaa tggcatggac caaaatgcaa caagttgaac tccaagttct
     2281 ggaaacgttt acagtatgaa atgcctttta agaggataga acccattaca catgagcagg
     2341 ctttagatgt cagtgagcaa gggccttttg gggagctgca gactgtctcg gccatttcca
     2401 tggccgcggc cacctccaca gctctagcca ctgcccatcc agatctccgt tctacctttc
     2461 acaacacgta ccattcacaa atgcgtcaga aacactacta ccgaagctat gagtacgacg
     2521 tacctcctac cggcaccctg cctcttacct ccataggcaa tcagcatacc tactgtaaca
     2581 tccctatgac actcatcaac gggcagcggc cacagacaaa atcgagcagg gagcagaatc
     2641 cagatgaggc ccacacaaac agtgccatcc tgccgctgtt gccaagggag accagtatat
     2701 ccagtgtgat atggtgacag aaaagcaagg gacatcccgt ccctgggagg ttgagtggaa
     2761 tctgcagtcc agtgcctgga actaaatcct cgactgctgc tgttaaaaaa catgcattag
     2821 aatctctaga acacgaggaa aaacagggtc ttgtacatat gttttttgga atttctttgt
     2881 agcatcagtg tcctcctgtt ttaccatgtc ttttaccatt acattttttg actttgtttt
     2941 atatgtcgtt ggaatttgta aatttacatt ttttttaaag aagagactga tgtgtagata
     3001 gaaaaccctt tttttgcttc attagtttag ttttagaatg ggtttttatt ttatttcctt
     3061 ttttaaaatt ttactttgct tttaacattt ccttggggtg cttggacaaa tctatccgat
     3121 gggacaagga gcaccggatt ctttctcggg ttctgcctag catcaactgg gccacgtcgg
     3181 ccttcagaga acagtgcaac aaatgccagc attgccattc gggggaaaaa aaaaaaaaaa
     3241 aaaaaaagat gagaagaaca cttgttcata ggagggcccc accagtcaga gccctgaatc
     3301 tcttccttgt cccacctcat tccccacctc tacctttcta atggcggcat gatgtgtaaa
     3361 ctctgtgcag gggtgggggc gggtctaact gtcttaacat tcaagtcact gctcttcaga
     3421 atacactcta gacccaaagg tgtgctaatc acttcacagt gaccactaca gagtactaag
     3481 aagagaagat caagggcatg aaattgggga agagtgttat ttccgttttt taaatgagtt
     3541 gatgtaccct tatatatata tacatatata tataaatata aatatatata aaaacaacaa
     3601 aacaaaacaa aaaaa
//
