Sequence in raw or FASTA format:
Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 3, mRNA.
| RefSeq Version | NM_001145256.1, 223671882 |
| Length | 4205 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 3, mRNA. |
| Product | interleukin-1 receptor-associated kinase 4 isoform b |
| Comment | 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. [supplied by RefSeq]. Transcript Variant: This variant (3) lacks an alternate exon and uses a downstream start codon, compared to variant 1. The resulting isoform (b), also known as the short form, has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 all encode the same isoform. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_001138728.1 |
| CDS | 357..1367 | Exon (1) | 1..73 | Exon (2) | 1..73 | Exon (3) | 74..121 | Exon (4) | 122..291 | Exon (5) | 292..474 | Exon (6) | 475..635 | Exon (7) | 636..700 | Exon (8) | 701..815 | Exon (9) | 816..925 | Exon (10) | 926..1109 | Exon (11) | 1110..1172 | Exon (12) | 1173..1331 | Exon (13) | 1332..4195 |
| Translation | MPFCDKDRTLMTPVQNLEQSYMPPDSSSPENKSLEVSDTRFHSFSFYELKNVTNNFDERP
ISVGGNKMGEGGFGVVYKGYVNNTTVAVKKLAAMVDITTEELKQQFDQEIKVMAKCQHEN
LVELLGFSSDGDDLCLVYVYMPNGSLLDRLSCLDGTPPLSWHMRCKIAQGAANGINFLHE
NHHIHRDIKSANILLDEAFTAKISDFGLARASEKFAQTVMTSRIVGTTAYMAPEALRGEI
TPKSDIYSFGVVLLEIITGLPAVDEHREPQLLLDIKEEIEDEEKTIEDYIDKKMNDADST
SVEAMYSVASQCLHEKKNKRPDIKKVQQLLQEMTAS
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| Gene Symbol | IRAK4 |
| Gene Synonym | IPD1; NY-REN-64; REN64 |
| Chromosome | 12 |
| Locus Map | 12q12 |
| All Transcripts | NM_001145256 , NM_001114182 , NM_001145257 , NM_016123 , NM_001145258 |
| Title | Immune complex-mediated cell activation from systemic lupus erythematosus and rheumatoid arthritis patients elaborate different requirements for IRAK1/4 kinase activity across human cell types . |
| Author | Chiang,E.Y., Yu,X. and Grogan,J.L. |
| Journal | J. Immunol. 186 (2), 1279-1288 (2011) |
| Title | Two human MYD88 variants, S34Y and R98C, interfere with MyD88-IRAK4-myddosome assembly . |
| Author | George,J., Motshwene,P.G., Wang,H., Kubarenko,A.V., Rautanen,A., Mills,T.C., Hill,A.V., Gay,N.J. and Weber,A.N. |
| Journal | J. Biol. Chem. 286 (2), 1341-1353 (2011) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients . |
| Author | McDonald,D.R., Goldman,F., Gomez-Duarte,O.D., Issekutz,A.C., Kumararatne,D.S., Doffinger,R. and Geha,R.S. |
| Journal | J. Allergy Clin. Immunol. 126 (2), 332-337 (2010) |
| Title | Crystal structures of IRAK-4 kinase in complex with inhibitors: a serine/threonine kinase with tyrosine as a gatekeeper . |
| Author | Wang,Z., Liu,J., Sudom,A., Ayres,M., Li,S., Wesche,H., Powers,J.P. and Walker,N.P. |
| Journal | Structure 14 (12), 1835-1844 (2006) |
| Title | IRAK-4--a shared NF-kappaB activator in innate and acquired immunity . |
| Author | Suzuki,N. and Saito,T. |
| Journal | Trends Immunol. 27 (12), 566-572 (2006) |
| Title | Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4 . |
| Author | 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. |
| Journal | Nature 416 (6882), 750-756 (2002) |
| Title | Tollip, a new component of the IL-1RI pathway, links IRAK to the IL-1 receptor . |
| Author | Burns,K., Clatworthy,J., Martin,L., Martinon,F., Plumpton,C., Maschera,B., Lewis,A., Ray,K., Tschopp,J. and Volpe,F. |
| Journal | Nat. Cell Biol. 2 (6), 346-351 (2000) |
| Title | Antigens recognized by autologous antibody in patients with renal-cell carcinoma . |
| Author | 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. |
| Journal | Int. J. Cancer 83 (4), 456-464 (1999) |
| Title | Analysis of a human V beta gene subfamily . |
| Author | Siu,G., Strauss,E.C., Lai,E. and Hood,L.E. |
| Journal | J. Exp. Med. 164 (5), 1600-1614 (1986) |
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