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Index > Protein center > STUB1(Gene name) > Human
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  • STUB1 (Gene name),
  • E3 ubiquitin-protein ligase CHIP (Protein name ),  CHIP_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    STUB1(PP1131;CHIP);
    Protein name:
    E3 ubiquitin-protein ligase CHIP;
    Alternative:
    CLL-associated antigen KW-8;Antigen NY-CO-7;STIP1 homology and U box-containing protein 1;Carboxy terminus of Hsp70-interacting protein;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homodimer (By similarity). Interacts with BAG2, and with the E2 ubiquitin conjugating enzymes UBE2D1, UBE2D2 and UBE2D3. Interacts with the C-terminal domains of HSPA8 and HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1. Interacts with MKKS. Interacts with DYX1C1 and POLB. Interacts (via TPR repeats) with HSP90AA1 (By similarity). Interacts (via the U-box domain) with the UBE2V2-UBE2N heterodimer; the complex has a specific 'Lys-63'-linked polyubiquitination activity.
    Function:
    E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation.
    Subcellular Location:
    Cytoplasm
    Protein Attributes:
    Sequence length:
    303
    Sequence:
    50:
    MKGKEEKEGG | ARLGAGGGSP | EKSPSAQELK | EQGNRLFVGR | KYPEAAACYG | 
    100:
    RAITRNPLVA | VYYTNRALCY | LKMQQHEQAL | ADCRRALELD | GQSVKAHFFL | 
    150:
    GQCQLEMESY | DEAIANLQRA | YSLAKEQRLN | FGDDIPSALR | IAKKKRWNSI | 
    200:
    EERRIHQESE | LHSYLSRLIA | AERERELEEC | QRNHEGDEDD | SHVRAQQACI | 
    250:
    EAKHDKYMAD | MDELFSQVDE | KRKKRDIPDY | LCGKISFELM | REPCITPSGI | 
    300:
    TYDRKDIEEH | LQRVGHFDPV | TRSPLTQEQL | IPNLAMKEVI | DAFISENGWV | 
    303:
    EDY
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    UniGene:
    Pfam:
    String:
    KEGG:
    SMR:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    E2375h
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    Packing:
    96T
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    ELISA Kit for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    E2375m
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    E2375c
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    U2375c
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    U2375h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    U2375m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    P2375Rb-m
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human E3 ubiquitin-protein ligase CHIP
    Polyclonal Antibody for Human E3 ubiquitin-protein ligase CHIP
    Cat.:
    P2375Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human E3 ubiquitin-protein ligase CHIP
    Monoclonal Antibody for Human E3 ubiquitin-protein ligase CHIP
    Monoclonal Antibody for Human E3 ubiquitin-protein ligase CHIP
    Protein for Human E3 ubiquitin-protein ligase CHIP
    Protein for Human E3 ubiquitin-protein ligase CHIP
    Protein for Human E3 ubiquitin-protein ligase CHIP

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
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      Int. J. Cancer76:652-658(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);IDENTIFICATION AS TUMOR-ASSOCIATED ANTIGEN
      tissue: Colon carcinoma.
    2. 2.
      "Identification of CHIP, a novel tetratricopeptide repeat-containing protein that interacts with heat shock proteins and negatively regulates chaperone functions."
      Ballinger C.A. , Connell P. , Wu Y. , Hu Z. , Thompson L.J. , Yin L.-Y. , Patterson C.
      Mol. Cell. Biol.19:4535-4545(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);FUNCTION;INTERACTION WITH HSPA8 AND HSPA1A;SUBCELLULAR LOCATION;TISSUE SPECIFICITY
      tissue: Heart.
    3. 3.
      "Identification of tumor-associated antigens in chronic lymphocytic leukemia by SEREX."
      Krackhardt A.M. , Witzens M. , Harig S. , Hodi F.S. , Zauls A.J. , Chessia M. , Barrett P. , Gribben J.G.
      Blood100:2123-2131(2002) [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] (ISOFORM 1);IDENTIFICATION AS TUMOR-ASSOCIATED ANTIGEN
    4. 4.
      "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J. , Peden J.F. , Lloyd C. , Horsley S.W. , Clark K. , Tufarelli C. , Kearney L. , Buckle V.J. , Doggett N.A. , Flint J. , Higgs D.R.
      Hum. Mol. Genet.10:339-352(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    5. 5.
      "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D. , Gong Y. , Qin W. , Zhang P. , Li J. , Wei L. , Zhou X. , Li H. , Qiu X. , Zhong F. , He L. , Yu J. , Yao G. , Jiang H. , Qian L. , Yu Y. , Shu H. , Chen X. , more...
      Proc. Natl. Acad. Sci. U.S.A.101:15724-15729(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] (ISOFORM 2)
    6. 6.
      "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J. , Han C. , Gordon L.A. , Terry A. , Prabhakar S. , She X. , Xie G. , Hellsten U. , Chan Y.M. , Altherr M. , Couronne O. , Aerts A. , Bajorek E. , Black S. , Blumer H. , Branscomb E. , Brown N.C. , Bruno W.J. , more...
      Nature432:988-994(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 GENOMIC DNA]
    7. 7.
      [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.
      "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] (ISOFORM 1)
      tissue: Colon.
      tissue: Skin.
    9. 9.
      Bienvenut W.V. , Waridel P. , Quadroni M.
      Submitted (2009-03) to the UniProtKB
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 13-30; 56-66; 86-119; 129-140; 155-167; 235-241; 256-263 AND 273-287;PHOSPHORYLATION AT SER-19;IDENTIFICATION BY MASS SPECTROMETRY
      tissue: Embryonic kidney.
    10. 10.
      "U box proteins as a new family of ubiquitin-protein ligases."
      Hatakeyama S. , Yada M. , Matsumoto M. , Ishida N. , Nakayama K.I.
      J. Biol. Chem.276:33111-33120(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: TISSUE SPECIFICITY
    11. 11.
      "CHIP is a U-box-dependent E3 ubiquitin ligase: identification of Hsc70 as a target for ubiquitylation."
      Jiang J. , Ballinger C.A. , Wu Y. , Dai Q. , Cyr D.M. , Hoehfeld J. , Patterson C.
      J. Biol. Chem.276:42938-42944(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: FUNCTION;CATALYTIC ACTIVITY;PATHWAY;INTERACTION WITH HSPA8; UBE2D1; UBE2D2 AND UBE2D3
    12. 12.
      "The co-chaperone CHIP regulates protein triage decisions mediated by heat-shock proteins."
      Connell P. , Ballinger C.A. , Jiang J. , Wu Y. , Thompson L.J. , Hoehfeld J. , Patterson C.
      Nat. Cell Biol.3:93-96(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: FUNCTION;INTERACTION WITH HSP90
    13. 13.
      "Ubiquitylation of neuronal nitric-oxide synthase by CHIP, a chaperone-dependent E3 ligase."
      Peng H.M. , Morishima Y. , Jenkins G.J. , Dunbar A.Y. , Lau M. , Patterson C. , Pratt W.B. , Osawa Y.
      J. Biol. Chem.279:52970-52977(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: FUNCTION;CATALYTIC ACTIVITY;PATHWAY
    14. 14.
      "The cochaperone HspBP1 inhibits the CHIP ubiquitin ligase and stimulates the maturation of the cystic fibrosis transmembrane conductance regulator."
      Alberti S. , Boehse K. , Arndt V. , Schmitz A. , Hoehfeld J.
      Mol. Biol. Cell15:4003-4010(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: INTERACTION WITH HSPA1A AND HSPBP1
    15. 15.
      "Regulation of the cytoplasmic quality control protein degradation pathway by BAG2."
      Dai Q. , Qian S.B. , Li H.-H. , McDonough H. , Borchers C. , Huang D. , Takayama S. , Younger J.M. , Ren H.Y. , Cyr D.M. , Patterson C.
      J. Biol. Chem.280:38673-38681(2005) [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 BAG2
    16. 16.
      "Chaperoned ubiquitylation -- crystal structures of the CHIP U box E3 ubiquitin ligase and a CHIP-Ubc13-Uev1a complex."
      Zhang M. , Windheim M. , Roe S.M. , Peggie M. , Cohen P. , Prodromou C. , Pearl L.H.
      Mol. Cell20:525-538(2005) [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 UBE2N AND UBE2V1
    17. 17.
      "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V. , Blagoev B. , Gnad F. , Macek B. , Kumar C. , Mortensen P. , Mann M.
      Cell127:635-648(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    18. 18.
      "Two different classes of E2 ubiquitin-conjugating enzymes are required for the mono-ubiquitination of proteins and elongation by polyubiquitin chains with a specific topology."
      Windheim M. , Peggie M. , Cohen P.
      Biochem. J.409:723-729(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: POLYUBIQUITINATION AT LYS-22; LYS-221 AND LYS-255;DOMAIN TPR
    19. 19.
      "MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination."
      Hirayama S. , Yamazaki Y. , Kitamura A. , Oda Y. , Morito D. , Okawa K. , Kimura H. , Cyr D.M. , Kubota H. , Nagata K.
      Mol. Biol. Cell19:899-911(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 MKKS
    20. 20.
      "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
      Mol. Cell31:438-448(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    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 [LARGE SCALE ANALYSIS] AT SER-19; SER-23 AND SER-273;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    22. 22.
      "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
      Anal. Chem.81:4493-4501(2009) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    23. 23.
      "CYP3A4 ubiquitination by gp78 (the tumor autocrine motility factor receptor, AMFR) and CHIP E3 ligases."
      Pabarcus M.K. , Hoe N. , Sadeghi S. , Patterson C. , Wiertz E. , Correia M.A.
      Arch. Biochem. Biophys.483:66-74(2009) [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: FUNCTION
    24. 24.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;INTERACTION WITH POLB
    25. 25.
      "Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia."
      Massinen S. , Tammimies K. , Tapia-Paez I. , Matsson H. , Hokkanen M.E. , Soederberg O. , Landegren U. , Castren E. , Gustafsson J.A. , Treuter E. , Kere J.
      Hum. Mol. Genet.18:2802-2812(2009) [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 DYX1C1
    26. 26.
      "Hsp90 is an essential regulator of EphA2 receptor stability and signaling: implications for cancer cell migration and metastasis."
      Annamalai B. , Liu X. , Gopal U. , Isaacs J.S.
      Mol. Cancer Res.7:1021-1032(2009) [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: FUNCTION
    27. 27.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    28. 28.
      "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
      Sci. Signal.2:RA46-RA46(2009) [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 [LARGE SCALE ANALYSIS] AT SER-19;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Leukemic T-cell.
    29. 29.
      "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
      Sci. Signal.3:RA3-RA3(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19 AND SER-273;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    30. 30.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    31. 31.
      "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
      Sci. Signal.4:RS3-RS3(2011) [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 [LARGE SCALE ANALYSIS] AT SER-19 AND SER-23;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    32. 32.
      "Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy."
      Sarparanta J. , Jonson P.H. , Golzio C. , Sandell S. , Luque H. , Screen M. , McDonald K. , Stajich J.M. , Mahjneh I. , Vihola A. , Raheem O. , Penttila S. , Lehtinen S. , Huovinen S. , Palmio J. , Tasca G. , Ricci E. , Hackman P. , more...
      Nat. Genet.44:450-455(2012) [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 DNAJB6
    33. 33.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    34. 34.
      "Ube2W conjugates ubiquitin to alpha-amino groups of protein N-termini."
      Tatham M.H. , Plechanovova A. , Jaffray E.G. , Salmen H. , Hay R.T.
      Biochem. J.453:137-145(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: UBIQUITINATION AT LYS-2
    35. 35.
      "Endoplasmic reticulum protein quality control is determined by cooperative interactions between Hsp/c70 protein and the CHIP E3 ligase."
      Matsumura Y. , Sakai J. , Skach W.R.
      J. Biol. Chem.288:31069-31079(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: FUNCTION;INTERACTION WITH HSPA8;MUTAGENESIS OF PRO-269
    36. 36.
      "Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia."
      Shi Y. , Wang J. , Li J.D. , Ren H. , Guan W. , He M. , Yan W. , Zhou Y. , Hu Z. , Zhang J. , Xiao J. , Su Z. , Dai M. , Wang J. , Jiang H. , Guo J. , Zhou Y. , Zhang F. , more...
      PLoS ONE8:E81884-E81884(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: VARIANTS SCAR16 ILE-130; CYS-147; PHE-165 AND THR-236
    37. 37.
      "Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP."
      Shi C.H. , Schisler J.C. , Rubel C.E. , Tan S. , Song B. , McDonough H. , Xu L. , Portbury A.L. , Mao C.Y. , True C. , Wang R.H. , Wang Q.Z. , Sun S.L. , Seminara S.B. , Patterson C. , Xu Y.M.
      Hum. Mol. Genet.23:1013-1024(2014) [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 SCAR16 MET-246
    38. 38.
      "Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts."
      Synofzik M. , Schuele R. , Schulze M. , Gburek-Augustat J. , Schweizer R. , Schirmacher A. , Kraegeloh-Mann I. , Gonzalez M. , Young P. , Zuechner S. , Schoels L. , Bauer P.
      Orphanet J. Rare Dis.9:57-64(2014) [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: VARIANTS SCAR16 ASP-79; THR-79; VAL-123 AND THR-240
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