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Index > Protein center > NFKBIA(Gene name) > Human
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  • NFKBIA (Gene name),
  • NF-kappa-B inhibitor alpha (Protein name ),  IKBA_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Related Databases
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  • Gene name:
    NFKBIA(IKBA;MAD3;NFKBI);
    Protein name:
    NF-kappa-B inhibitor alpha;
    Alternative:
    Major histocompatibility complex enhancer-binding protein MAD3;I-kappa-B-alpha(IkB-alpha;IkappaBalpha);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, IKBKAP and MAP3K14. Interacts with HBV protein X. Interacts with RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2.
    Function:
    Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to tranlocate to the nucleus and activate transcription.
    Subcellular Location:
    Cytoplasm Nucleus Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export.
    Protein Attributes:
    Sequence length:
    317
    Sequence:
    50:
    MFQAAERPQE | WAMEGPRDGL | KKERLLDDRH | DSGLDSMKDE | EYEQMVKELQ | 
    100:
    EIRLEPQEVP | RGSEPWKQQL | TEDGDSFLHL | AIIHEEKALT | MEVIRQVKGD | 
    150:
    LAFLNFQNNL | QQTPLHLAVI | TNQPEIAEAL | LGAGCDPELR | DFRGNTPLHL | 
    200:
    ACEQGCLASV | GVLTQSCTTP | HLHSILKATN | YNGHTCLHLA | SIHGYLGIVE | 
    250:
    LLVSLGADVN | AQEPCNGRTA | LHLAVDLQNP | DLVSLLLKCG | ADVNRVTYQG | 
    300:
    YSPYQLTWGR | PSTRIQQQLG | QLTLENLQML | PESEDEESYD | TESEFTEFTE | 
    317:
    DELPYDDCVF | GGQRLTL
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    Pfam:
    UniGene:
    SMR:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human NF-kappa-B inhibitor alpha
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    ELISA Kit for Human NF-kappa-B inhibitor alpha
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    E1848r
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    ELISA Kit for Human NF-kappa-B inhibitor alpha
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    E1848p
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    ELISA Kit for Human NF-kappa-B inhibitor alpha
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    ELISA Kit for Human NF-kappa-B inhibitor alpha
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    E1848c
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    CLIA Kit for Human NF-kappa-B inhibitor alpha
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    CLIA Kit for Human NF-kappa-B inhibitor alpha
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    U1848c
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    CLIA Kit for Human NF-kappa-B inhibitor alpha
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    U1848r
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    CLIA Kit for Human NF-kappa-B inhibitor alpha
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    U1848p
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    Packing:
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    CLIA Kit for Human NF-kappa-B inhibitor alpha
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    U1848h
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    Polyclonal Antibody for Human NF-kappa-B inhibitor alpha
    Polyclonal Antibody for Human NF-kappa-B inhibitor alpha
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    P1848Rb-r
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human NF-kappa-B inhibitor alpha
    Cat.:
    P1848Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human NF-kappa-B inhibitor alpha
    Polyclonal Antibody for Human NF-kappa-B inhibitor alpha
    Cat.:
    P1848Rb-m
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human NF-kappa-B inhibitor alpha
    Monoclonal Antibody for Human NF-kappa-B inhibitor alpha
    Monoclonal Antibody for Human NF-kappa-B inhibitor alpha
    Monoclonal Antibody for Human NF-kappa-B inhibitor alpha
    Monoclonal Antibody for Human NF-kappa-B inhibitor alpha
    Protein for Human NF-kappa-B inhibitor alpha
    Protein for Human NF-kappa-B inhibitor alpha
    Protein for Human NF-kappa-B inhibitor alpha
    Protein for Human NF-kappa-B inhibitor alpha
    Protein for Human NF-kappa-B inhibitor alpha

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    Citations
    [1].
    Zhixiong Pan , Jiwen Wang , Hui Tang , Liang Li , Jia Lv , Lu Xia , Chunchun Han , Feng Xu , Hua He , Hengyong Xu , Bo Kang
    References
    1. 1.
      "Characterization of an immediate-early gene induced in adherent monocytes that encodes I kappa B-like activity."
      Haskill S. , Beg A.A. , Tompkins S.M. , Morris J.S. , Yurochko A.D. , Sampson-Johannes A. , Mondal K. , Ralph P. , Baldwin A.S. Jr.
      Cell65:1281-1289(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Monocyte.
    2. 2.
      "Clonal deleterious mutations in the IkappaB alpha gene in the malignant cells in Hodgkin's lymphoma."
      Jungnickel B. , Staratschek-Jox A. , Braeuninger A. , Spieker T. , Wolf J. , Diehl V. , Hansmann M.-L. , Rajewsky K. , Kueppers R.
      J. Exp. Med.191:395-402(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
      tissue: Lymph node.
    3. 3.
      "Homo sapiens IkBa mRNA."
      Liu B. , Huang A.
      Submitted (2001-04) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    4. 4.
      "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
      Submitted (2004-10) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    5. 5.
      SeattleSNPs variation discovery resource
      Submitted (2003-12) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    6. 6.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Cerebellum.
    7. 7.
      "The DNA sequence and analysis of human chromosome 14."
      Heilig R. , Eckenberg R. , Petit J.-L. , Fonknechten N. , Da Silva C. , Cattolico L. , Levy M. , Barbe V. , De Berardinis V. , Ureta-Vidal A. , Pelletier E. , Vico V. , Anthouard V. , Rowen L. , Madan A. , Qin S. , Sun H. , Du H. , more...
      Nature421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    8. 8.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    9. 9.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Brain.
      tissue: Kidney.
    10. 10.
      "I kappa B/MAD-3 masks the nuclear localization signal of NF-kappa B p65 and requires the transactivation domain to inhibit NF-kappa B p65 DNA binding."
      Ganchi P.A. , Sun S.C. , Greene W.C. , Ballard D.W.
      Mol. Biol. Cell3:1339-1352(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH RELA
    11. 11.
      "Signal-induced degradation of IkappaB alpha requires site-specific ubiquitination."
      Scherer D.C. , Brockman J.A. , Chen Z. , Maniatis T. , Ballard D.W.
      Proc. Natl. Acad. Sci. U.S.A.92:11259-11263(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: UBIQUITINATION AT LYS-21 AND LYS-22;FUNCTION;MUTAGENESIS OF LYS-21; LYS-22; LYS-38 AND LYS-47
    12. 12.
      "Tyrosine phosphorylation of IkappaB-alpha activates NF-kappaB without proteolytic degradation of IkappaB-alpha."
      Imbert V. , Rupec R.A. , Livolsi A. , Pahl H.L. , Traenckner E.B.-M. , Mueller-Dieckmann C. , Farahifar D. , Rossi B. , Auberger P. , Baeuerle P.A. , Peyron J.-F.
      Cell86:787-798(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT TYR-42;MUTAGENESIS OF TYR-42
    13. 13.
      "Casein kinase II phosphorylates I kappa B alpha at S-283, S-289, S-293, and T-291 and is required for its degradation."
      McElhinny J.A. , Trushin S.A. , Bren G.D. , Chester N. , Paya C.V.
      Mol. Cell. Biol.16:899-906(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-283; SER-288; SER-293 AND THR-291
    14. 14.
      "Mapping of the inducible IkappaB phosphorylation sites that signal its ubiquitination and degradation."
      DiDonato J.A. , Mercurio F. , Rosette C. , Wu-Li J. , Suyang H. , Ghosh S. , Karin M.
      Mol. Cell. Biol.16:1295-1304(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF LYS-21; LYS-22; ASP-31; SER-32; ASP-35; SER-36; SER-234; SER-262 AND THR-263
    15. 15.
      "Phosphorylation of IkappaBalpha in the C-terminal PEST domain by casein kinase II affects intrinsic protein stability."
      Lin R. , Beauparlant P. , Makris C. , Meloche S. , Hiscott J.
      Mol. Cell. Biol.16:1401-1409(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT THR-291; SER-283 AND THR-299
    16. 16.
      "Nuclear localization of IkappaB alpha is mediated by the second ankyrin repeat: the IkappaB alpha ankyrin repeats define a novel class of cis-acting nuclear import sequences."
      Sachdev S. , Hoffmann A. , Hannink M.
      Mol. Cell. Biol.18:2524-2534(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;NUCLEAR LOCALIZATION SIGNAL;MUTAGENESIS OF 115-LEU--ILE-120
    17. 17.
      "A complex containing betaTrCP recruits Cdc34 to catalyse ubiquitination of IkappaBalpha."
      Vuillard L. , Nicholson J. , Hay R.T.
      FEBS Lett.455:311-314(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: UBIQUITINATION BY THE SCF(FBXW11) COMPLEX
    18. 18.
      "Identification of the ubiquitin carrier proteins, E2s, involved in signal-induced conjugation and subsequent degradation of IkappaBalpha."
      Gonen H. , Bercovich B. , Orian A. , Carrano A. , Takizawa C. , Yamanaka K. , Pagano M. , Iwai K. , Ciechanover A.
      J. Biol. Chem.274:14823-14830(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-32 AND SER-36;MUTAGENESIS OF SER-32 AND SER-36;UBIQUITINATION BY UBE2D2 AND UBE2D3
    19. 19.
      "Direct association and nuclear import of the hepatitis B virus X protein with the NF-kappaB inhibitor IkappaBalpha."
      Weil R. , Sirma H. , Giannini C. , Kremsdorf D. , Bessia C. , Dargemont C. , Brechot C. , Israel A.
      Mol. Cell. Biol.19:6345-6354(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH HBV PROTEIN X
    20. 20.
      "IKK epsilon is part of a novel PMA-inducible IkappaB kinase complex."
      Peters R.T. , Liao S.-M. , Maniatis T.
      Mol. Cell5:513-522(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-32 AND SER-36
    21. 21.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION BY TBK1
    22. 22.
      "A subclass of Ras proteins that regulate the degradation of IkappaB."
      Fenwick C. , Na S.-Y. , Voll R.E. , Zhong H. , Im S.-Y. , Lee J.W. , Ghosh S.
      Science287:869-873(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH NKIRAS1 AND NKIRAS2
    23. 23.
      "A nuclear export signal in the N-terminal regulatory domain of IkappaBalpha controls cytoplasmic localization of inactive NF-kappaB/IkappaBalpha complexes."
      Huang T.T. , Kudo N. , Yoshida M. , Miyamoto S.
      Proc. Natl. Acad. Sci. U.S.A.97:1014-1019(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;NUCLEAR EXPORT SIGNAL;MUTAGENESIS OF 45-MET--ILE-52
    24. 24.
      "SUMO-1 conjugation in vivo requires both a consensus modification motif and nuclear targeting."
      Rodriguez M.S. , Dargemont C. , Hay R.T.
      J. Biol. Chem.276:12654-12659(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUMOYLATION AT LYS-21;SUBCELLULAR LOCATION;MUTAGENESIS OF LYS-21 AND LYS-22
    25. 25.
      "Thrombin and collagen induce a feedback inhibitory signaling pathway in platelets involving dissociation of the catalytic subunit of protein kinase A from an NFkappaB-IkappaB complex."
      Gambaryan S. , Kobsar A. , Rukoyatkina N. , Herterich S. , Geiger J. , Smolenski A. , Lohmann S.M. , Walter U.
      J. Biol. Chem.285:18352-18363(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PRKACA
    26. 26.
      "Protein methyltransferase 2 inhibits NF-kappaB function and promotes apoptosis."
      Ganesh L. , Yoshimoto T. , Moorthy N.C. , Akahata W. , Boehm M. , Nabel E.G. , Nabel G.J.
      Mol. Cell. Biol.26:3864-3874(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH PRMT2;SUBCELLULAR LOCATION
    27. 27.
      "Posttranslational hydroxylation of ankyrin repeats in IkappaB proteins by the hypoxia-inducible factor (HIF) asparaginyl hydroxylase, factor inhibiting HIF (FIH)."
      Cockman M.E. , Lancaster D.E. , Stolze I.P. , Hewitson K.S. , McDonough M.A. , Coleman M.L. , Coles C.H. , Yu X. , Hay R.T. , Ley S.C. , Pugh C.W. , Oldham N.J. , Masson N. , Schofield C.J. , Ratcliffe P.J.
      Proc. Natl. Acad. Sci. U.S.A.103:14767-14772(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH HIF1AN;HYDROXYLATION AT ASN-210 AND ASN-244;MUTAGENESIS OF ASN-210 AND ASN-244
    28. 28.
      "RSUME, a small RWD-containing protein, enhances SUMO conjugation and stabilizes HIF-1alpha during hypoxia."
      Carbia-Nagashima A. , Gerez J. , Perez-Castro C. , Paez-Pereda M. , Silberstein S. , Stalla G.K. , Holsboer F. , Arzt E.
      Cell131:309-323(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH RWDD3;SUMOYLATION;MUTAGENESIS OF LYS-21 AND LSY-22
    29. 29.
      "The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment."
      Chae J.J. , Wood G. , Richard K. , Jaffe H. , Colburn N.T. , Masters S.L. , Gumucio D.L. , Shoham N.G. , Kastner D.L.
      Blood112:1794-1803(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MEFV
    30. 30.
      "Priming and extending: a UbcH5/Cdc34 E2 handoff mechanism for polyubiquitination on a SCF substrate."
      Wu K. , Kovacev J. , Pan Z.Q.
      Mol. Cell37:784-796(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: UBIQUITINATION AT LYS-21 AND LYS-22
    31. 31.
      "The cysteine protease domain of porcine reproductive and respiratory syndrome virus nonstructural protein 2 possesses deubiquitinating and interferon antagonism functions."
      Sun Z. , Chen Z. , Lawson S.R. , Fang Y.
      J. Virol.84:7832-7846(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DEUBIQUITINATION BY PORCINE REPRODUCTIVE AND RESPIRATORY SYNDROME VIRUS NSP2 PROTEIN
    32. 32.
      "In silico structural and functional characterization of the RSUME splice variants."
      Gerez J. , Fuertes M. , Tedesco L. , Silberstein S. , Sevlever G. , Paez-Pereda M. , Holsboer F. , Turjanski A.G. , Arzt E.
      PLoS ONE8:E57795-E57795(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH RWDD3
    33. 33.
      "Structure of an IkappaBalpha/NF-kappaB complex."
      Jacobs M.D. , Harrison S.C.
      Cell95:749-758(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 70-282
    34. 34.
      "The crystal structure of the IkappaBalpha/NF-kappaB complex reveals mechanisms of NF-kappaB inactivation."
      Huxford T. , Huang D.B. , Malek S. , Ghosh G.
      Cell95:759-770(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 73-302
    35. 35.
      "A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency."
      Courtois G. , Smahi A. , Reichenbach J. , Doffinger R. , Cancrini C. , Bonnet M. , Puel A. , Chable-Bessia C. , Yamaoka S. , Feinberg J. , Dupuis-Girod S. , Bodemer C. , Livadiotti S. , Novelli F. , Rossi P. , Fischer A. , Israel A. , Munnich A. , more...
      J. Clin. Invest.112:1108-1115(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ADEDAID ILE-32
    36. 36.
      "A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency."
      Lopez-Granados E. , Keenan J.E. , Kinney M.C. , Leo H. , Jain N. , Ma C.A. , Quinones R. , Gelfand E.W. , Jain A.
      Hum. Mutat.29:861-868(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN ADEDAID
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