LOCUS       NM_001351340            4351 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens interleukin 1 receptor associated kinase 4 (IRAK4),
            transcript variant 8, mRNA.
ACCESSION   NM_001351340 XM_005268947
VERSION     NM_001351340.2
KEYWORDS    RefSeq.
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 4351)
  AUTHORS   Peterson,J., Balogh Sivars,K., Bianco,A. and Roper,K.
  TITLE     Toll-like receptor signalling via IRAK4 affects epithelial
            integrity and tightness through regulation of junctional tension
  JOURNAL   Development 150 (24) (2023)
   PUBMED   37997696
  REMARK    GeneRIF: Toll-like receptor signalling via IRAK4 affects epithelial
            integrity and tightness through regulation of junctional tension.
REFERENCE   2  (bases 1 to 4351)
  AUTHORS   Bennett,J., Ishikawa,C., Agarwal,P., Yeung,J., Sampson,A.,
            Uible,E., Vick,E., Bolanos,L.C., Hueneman,K., Wunderlich,M.,
            Kolt,A., Choi,K., Volk,A., Greis,K.D., Rosenbaum,J., Hoyt,S.B.,
            Thomas,C.J. and Starczynowski,D.T.
  TITLE     Paralog-specific signaling by IRAK1/4 maintains MyD88-independent
            functions in MDS/AML
  JOURNAL   Blood 142 (11), 989-1007 (2023)
   PUBMED   37172199
  REMARK    GeneRIF: Paralog-specific signaling by IRAK1/4 maintains
            MyD88-independent functions in MDS/AML.
REFERENCE   3  (bases 1 to 4351)
  AUTHORS   Cooray,S., Price-Kuehne,F., Hong,Y., Omoyinmi,E., Burleigh,A.,
            Gilmour,K.C., Ahmad,B., Choi,S., Bahar,M.W., Torpiano,P.,
            Gagunashvili,A., Jensen,B., Bellos,E., Sancho-Shimizu,V.,
            Herberg,J.A., Mankad,K., Kumar,A., Kaliakatsos,M., Worth,A.J.J.,
            Eleftheriou,D., Whittaker,E. and Brogan,P.A.
  TITLE     Neuroinflammation, autoinflammation, splenomegaly and anemia caused
            by bi-allelic mutations in IRAK4
  JOURNAL   Front Immunol 14, 1231749 (2023)
   PUBMED   37744344
  REMARK    GeneRIF: Neuroinflammation, autoinflammation, splenomegaly and
            anemia caused by bi-allelic mutations in IRAK4.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4351)
  AUTHORS   Garcia-Garcia,A., Perez de Diego,R., Flores,C., Rinchai,D.,
            Sole-Violan,J., Deya-Martinez,A., Garcia-Solis,B.,
            Lorenzo-Salazar,J.M., Hernandez-Brito,E., Lanz,A.L., Moens,L.,
            Bucciol,G., Almuqamam,M., Domachowske,J.B., Colino,E.,
            Santos-Perez,J.L., Marco,F.M., Pignata,C., Bousfiha,A.,
            Turvey,S.E., Bauer,S., Haerynck,F., Ocejo-Vinyals,J.G.,
            Lendinez,F., Prader,S., Naumann-Bartsch,N., Pachlopnik Schmid,J.,
            Biggs,C.M., Hildebrand,K., Dreesman,A., Cardenes,M.A., Ailal,F.,
            Benhsaien,I., Giardino,G., Molina-Fuentes,A., Fortuny,C.,
            Madhavarapu,S., Conway,D.H., Prando,C., Schidlowski,L., Martinez de
            Saavedra Alvarez,M.T., Alfaro,R., Rodriguez de Castro,F., Meyts,I.,
            Hauck,F., Puel,A., Bastard,P., Boisson,B., Jouanguy,E., Abel,L.,
            Cobat,A., Zhang,Q., Casanova,J.L., Alsina,L. and
            Rodriguez-Gallego,C.
  CONSRTM   ESID Registry Working Party; COVID Human Genetic Effort
  TITLE     Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed
            to hypoxemic COVID-19 pneumonia
  JOURNAL   J Exp Med 220 (5) (2023)
   PUBMED   36880831
  REMARK    GeneRIF: Humans with inherited MyD88 and IRAK-4 deficiencies are
            predisposed to hypoxemic COVID-19 pneumonia.
REFERENCE   5  (bases 1 to 4351)
  AUTHORS   Wang,Z., Liu,J., Sudom,A., Ayres,M., Li,S., Wesche,H., Powers,J.P.
            and Walker,N.P.
  TITLE     Crystal structures of IRAK-4 kinase in complex with inhibitors: a
            serine/threonine kinase with tyrosine as a gatekeeper
  JOURNAL   Structure 14 (12), 1835-1844 (2006)
   PUBMED   17161373
  REMARK    GeneRIF: crystallographic analysis of IRAK-4 kinase in complex with
            inhibitors
REFERENCE   6  (bases 1 to 4351)
  AUTHORS   Suzuki,N. and Saito,T.
  TITLE     IRAK-4--a shared NF-kappaB activator in innate and acquired
            immunity
  JOURNAL   Trends Immunol 27 (12), 566-572 (2006)
   PUBMED   17046325
  REMARK    GeneRIF: Although each system seems to possess distinct activation
            mechanisms, interleukin-1 receptor-associated kinase (IRAK)-4 is
            essential for NF-kappaB activation in Toll-like receptor (TLR) and
            T-cell receptor (TCR) signaling pathways.
            Review article
REFERENCE   7  (bases 1 to 4351)
  AUTHORS   Suzuki,N., Suzuki,S., Duncan,G.S., Millar,D.G., Wada,T.,
            Mirtsos,C., Takada,H., Wakeham,A., Itie,A., Li,S., Penninger,J.M.,
            Wesche,H., Ohashi,P.S., Mak,T.W. and Yeh,W.C.
  TITLE     Severe impairment of interleukin-1 and Toll-like receptor
            signalling in mice lacking IRAK-4
  JOURNAL   Nature 416 (6882), 750-756 (2002)
   PUBMED   11923871
REFERENCE   8  (bases 1 to 4351)
  AUTHORS   Burns,K., Clatworthy,J., Martin,L., Martinon,F., Plumpton,C.,
            Maschera,B., Lewis,A., Ray,K., Tschopp,J. and Volpe,F.
  TITLE     Tollip, a new component of the IL-1RI pathway, links IRAK to the
            IL-1 receptor
  JOURNAL   Nat Cell Biol 2 (6), 346-351 (2000)
   PUBMED   10854325
REFERENCE   9  (bases 1 to 4351)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   10 (bases 1 to 4351)
  AUTHORS   Siu,G., Strauss,E.C., Lai,E. and Hood,L.E.
  TITLE     Analysis of a human V beta gene subfamily
  JOURNAL   J Exp Med 164 (5), 1600-1614 (1986)
   PUBMED   3772297
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093012.9.
            
            On Aug 13, 2020 this sequence version replaced NM_001351340.1.
            
            Summary: This gene encodes a kinase that activates NF-kappaB in
            both the Toll-like receptor (TLR) and T-cell receptor (TCR)
            signaling pathways. The protein is essential for most innate immune
            responses. Mutations in this gene result in IRAK4 deficiency and
            recurrent invasive pneumococcal disease. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (8), as well as variants 3-7, 9,
            and 10, encodes isoform b.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AY340966.1, SRR1803614.24951.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AC093012.9         25902-25967
            67-236              AC093012.9         35054-35223
            237-303             AC093012.9         37989-38055
            304-449             AC093012.9         38171-38316
            450-632             AC093012.9         39131-39313
            633-793             AC093012.9         39863-40023
            794-858             AC093012.9         40916-40980
            859-973             AC093012.9         44581-44695
            974-1083            AC093012.9         45144-45253
            1084-1267           AC093012.9         49258-49441
            1268-1330           AC093012.9         50613-50675
            1331-1489           AC093012.9         53350-53508
            1490-4351           AC093012.9         53631-56492
FEATURES             Location/Qualifiers
     source          1..4351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..4351
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /note="interleukin 1 receptor associated kinase 4"
                     /db_xref="GeneID:51135"
                     /db_xref="HGNC:HGNC:17967"
                     /db_xref="MIM:606883"
     exon            1..66
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            67..236
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            237..303
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            304..449
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            450..632
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     CDS             515..1525
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /EC_number="2.7.11.1"
                     /note="isoform b is encoded by transcript variant 8; renal
                     carcinoma antigen NY-REN-64"
                     /codon_start=1
                     /product="interleukin-1 receptor-associated kinase 4
                     isoform b"
                     /protein_id="NP_001338269.1"
                     /db_xref="CCDS:CCDS44862.1"
                     /db_xref="GeneID:51135"
                     /db_xref="HGNC:HGNC:17967"
                     /db_xref="MIM:606883"
                     /translation="MPFCDKDRTLMTPVQNLEQSYMPPDSSSPENKSLEVSDTRFHSF
                     SFYELKNVTNNFDERPISVGGNKMGEGGFGVVYKGYVNNTTVAVKKLAAMVDITTEEL
                     KQQFDQEIKVMAKCQHENLVELLGFSSDGDDLCLVYVYMPNGSLLDRLSCLDGTPPLS
                     WHMRCKIAQGAANGINFLHENHHIHRDIKSANILLDEAFTAKISDFGLARASEKFAQT
                     VMTSRIVGTTAYMAPEALRGEITPKSDIYSFGVVLLEIITGLPAVDEHREPQLLLDIK
                     EEIEDEEKTIEDYIDKKMNDADSTSVEAMYSVASQCLHEKKNKRPDIKKVQQLLQEMT
                     AS"
     exon            633..793
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            794..858
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            859..973
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1083
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1267
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1330
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1489
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..4351
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2880..2885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /note="hexamer: AATAAA"
     polyA_site      2898
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /note="major polyA site"
     regulatory      4331..4336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /note="hexamer: ATTAAA"
     polyA_site      4351
                     /gene="IRAK4"
                     /gene_synonym="IMD67; IPD1; IRAK-4; NY-REN-64; REN64"
                     /note="major polyA site"
ORIGIN      
        1 cttcgcggcg cttcctagtt cggctggttc ttctgtcgcc ggcttcagca gcccgcgccc
       61 gggcaggaat agaagatgaa caaacccata acaccatcaa catatgtgcg ctgcctcaat
      121 gttggactaa ttaggaagct gtcagatttt attgatcctc aagaaggatg gaagaagtta
      181 gctgtagcta ttaaaaaacc atctggtgat gatagataca atcagtttca cataagatga
      241 tgtagcaaga aggccctaac cagatgcagc ctctcgatct tggacttccc agcctccaga
      301 accgagattt gaagcattac ttcaaactgg aaaaagtccc acttctgaat tactgtttga
      361 ctggggcacc acaaattgca cagttggtga tcttgtggat cttttgatcc aaaatgaatt
      421 ttttgctcct gcgagtcttt tgctcccaga tgctgttccc aaaactgcta atacactacc
      481 ttctaaagaa gctataacag ttcagcaaaa acagatgcct ttctgtgaca aagacaggac
      541 attgatgaca cctgtgcaga atcttgaaca aagctatatg ccacctgact cctcaagtcc
      601 agaaaataaa agtttagaag ttagtgatac acgttttcac agtttttcat tttatgaatt
      661 gaagaatgtc acaaataact ttgatgaacg acccatttct gttggtggta ataaaatggg
      721 agagggagga tttggagttg tatataaagg ctacgtaaat aacacaactg tggcagtgaa
      781 gaagcttgca gcaatggttg acattactac tgaagaactg aaacagcagt ttgatcaaga
      841 aataaaagta atggcaaagt gtcaacatga aaacttagta gaactacttg gtttctcaag
      901 tgatggagat gacctctgct tagtatatgt ttacatgcct aatggttcat tgctagacag
      961 actctcttgc ttggatggta ctccaccact ttcttggcac atgagatgca agattgctca
     1021 gggtgcagct aatggcatca attttctaca tgaaaatcat catattcata gagatattaa
     1081 aagtgcaaat atcttactgg atgaagcttt tactgctaaa atatctgact ttggccttgc
     1141 acgggcttct gagaagtttg cccagacagt catgactagc agaattgtgg gaacaacagc
     1201 ttatatggca ccagaagctt tgcgtggaga aataacaccc aaatctgata tttacagctt
     1261 tggtgtggtt ttactagaaa taataactgg acttccagct gtggatgaac accgtgaacc
     1321 tcagttattg ctagatatta aagaagaaat tgaagatgaa gaaaagacaa ttgaagatta
     1381 tattgataaa aagatgaatg atgctgattc cacttcagtt gaagctatgt actctgttgc
     1441 tagtcaatgt ctgcatgaaa agaaaaataa gagaccagac attaagaagg ttcaacagct
     1501 gctgcaagag atgacagctt cttaaaactt tattggaaaa gactcttgac tttttatata
     1561 cacctatctc aaccattttt ttaactgatt tttttcctaa atattcttct ttacctttaa
     1621 caaggcatag gctgttgcag gacagtggtt attaaagcat gggttgaact tccaaaatat
     1681 aaaaatagag ccaccatatc aacacttagc cctacccatt agtatcaccc ccagttctta
     1741 cagtaatccc tgagaaatct ccttcaagca tcaccaaaca cagtttgaaa attacagggt
     1801 tagcaaaaag agcctgggct gtatgtaggg tggaaacact ctgatctgaa gcccagctga
     1861 ctccactact aatttgctgt aaagctttgg acatacactt agctgctgtg agccactaat
     1921 aacattgggc taatatctgc tgtgcttctc tgacaggtag tcatgaaaat caaatgatgc
     1981 aaaatatata caagcacttt gtaaattgta aaatgataca aaatttaaag tttatagagc
     2041 cagttacaaa atcctattag tcatatattt atagattgtg ttcacagcaa tcatttaacc
     2101 acaaataaaa tatcccttga tgatactgcc ataatgatat gtccattatt agattatgtt
     2161 acatgacaaa gttgaaggaa tttggcagat gcagttaagg ttcctaaaca actcactttg
     2221 agactgttga aagggcctga cctaatcaag tgaacccttg caagaagaat tctccttgta
     2281 agccttgaag aagtatgtga gagggccaca ttggctaaaa cctaaaggtg gcctctagga
     2341 gatgagacct accttccagt tgtcagcaag caggaaaaaa aaattgggac ctcagttgca
     2401 accacaagga actgaattct gccaaaaatc tgagtcagct tagaagagta ctccaagctt
     2461 cagatgataa ccacagcctg ggctgacacc tggatttcag ctttgcatga tcctcagtat
     2521 gagaatctat ctgttctgtg ctggacttct aatatataga actgtgagat aatgggtcac
     2581 attggctgga tgtggtggct catacctgta aatcccagca ctttgggagg ccgaggcagg
     2641 cagatcacct gaggtcaaga gttcaagacc ggcctggcca acatggtgaa accccgtctc
     2701 tactaaaaat acaaaaatta gacgagcgtg gtggtggaca cctgtagtcc cagctacttg
     2761 ggaggctgag gcaggagact agctggaacc agggaggtag aggttgcagt gagctgagat
     2821 cgtgccactg cactccagcc tgggtgacag agtgagactc catcataaat aaataaataa
     2881 ataaatgggt cacattaagc ctttaagttt gtggtaattt attattcagt aatagaaaac
     2941 aaatacagat actctcccat gatgtttttc ccatgatgat ttcccatgat atttacaggt
     3001 tttgcccaca tttgaggggt atgtggaaat tatacagagc atgtacagcg ggaggcttat
     3061 agtgtacgta ctgaaatgtg gggttggagc cccaacacag agaccccagc aggacactgc
     3121 ctagtagagc tatgggaagg gtgctgccac cctccagact tgagaattgt agagccacca
     3181 gcagcttgca ctctgagctt ggaaaagcca caggcactca acttcaacca tgagggaagc
     3241 cacgcaccct gcaaagccac aggagtggag ctgcccacgg cctcgagggc ccaccccttg
     3301 caccagtgtg ccaggatgtg ggacatggaa tcaaggaata tgttagggct tttttttttt
     3361 tttttttgag acggagtctt gctctgttgc ccaggctgga gtgcagtggc acgatctcgg
     3421 ctcactgcaa gctctgcctc ccaggttcac gccattcccc tgcctcagcc tccccagtag
     3481 ctgggactac aggtgcccgc caccatgccc agctaatttt ttttgtattt ttagtagaga
     3541 tggggtttca ctgtgttagc caggatggtc ttgatctcct gacctcgtga tcacccgcct
     3601 cggcctccca aagtgccagt atttaaagtt taatgtcttc ccagctgggt ttcagacttg
     3661 ccaggatcct gttgcccctt tctttagcca atttctccct tttgggacaa gaatgtttta
     3721 cttattgcct gtaccaccaa ctgtatcttg gaaataaata acttatattt tatttcagag
     3781 gctcataggc ggcaggaact taccttgagt ctcaaatgag acttaggact tttgagtgat
     3841 gctagaatga gttaagactt tgggaaggga tgattatatt ttgcaatgtg agaaagacat
     3901 tagatttggg gggctggggg tagaatgaca ttgtttagat gtttgtctcc ttcaaatttc
     3961 atgtttaaat gtaatcccca gtgttggggg tggaggtggg gcctgatggg aagtgtttgg
     4021 gtcatggtgg atgatccctc atgaatggct tagagccact ggtgatgagt gagttctcac
     4081 tcagttcgtg tgagatctgg tggcttaaaa gagtctgctc cccctttgcc ttccattgtg
     4141 attgtaacct tcctggggcc ttcatcaaag gccaggcaaa tattggtgcc gtgctagtat
     4201 ggcctgcaga accgtaagcc aaaacaaacc ttttttcttt ataaattacc cagcctcagt
     4261 tattccttta tagtgatgca aaacgggcta actatataaa tttgtaattt ttaagttata
     4321 gattgttttt attaaacact tatgaatact g
//
