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859 Possible Causes for CHFR, E3, Ligase, Ubiquitin Protein

  • Autosomal Recessive Juvenile Parkinson Disease

    Parkin is a ubiquitin ligase that ubiquitinates misfolded proteins targeted for the proteasome-dependent protein degradation pathway.[ncbi.nlm.nih.gov] Other names include: E3 ubiquitin-protein ligase parkin; Parkin; Parkinson juvenile disease protein 2; Parkinson disease protein 2; E3 ubiquitin ligase; AR-JP; LPRS2; PDJ;[biocompare.com] Catalogue number PRO-1840 Synonyms Parkin RBR E3 Ubiquitin Protein Ligase, Parkinson Juvenile Disease Protein 2, Parkinson Protein 2 E3 Ubiquitin Protein Ligase (Parkin),[prospecbio.com] Protein type: Ubiquitin ligase; Ligase; EC 6.3.2.19; EC 6.3.2.-; Ubiquitin conjugating system Chromosomal Location of Human Ortholog: 6q25.2-q27 Cellular Component: Golgi[mybiosource.com]

    Missing: CHFR
  • Kaufman Oculocerebrofacial Syndrome

    […] novel truncating mutation (c.556C T, p.Arg186stop) in UBE3B, which encodes a widely expressed HECT (homologous to the E6-AP carboxyl terminus) domain E3 ubiquitin-protein ligase[ncbi.nlm.nih.gov] The ubiquitin ligase comprises an N -terminal IQ domain (IQ), and a C -terminal catalytic domain (homologous to the E6-AP carboxyl terminus).[jmg.bmj.com] […] homozygosity for a novel truncating mutation (c.556C T, p.Arg186stop) in UBE3B, which encodes a widely expressed HECT (homologous to the E6-AP carboxyl terminus) domain E3[ncbi.nlm.nih.gov] , E3 enzymes control the efficiency and specificity of protein ubiquitination.[jmg.bmj.com]

    Missing: CHFR
  • Syndromic Multisystem Autoimmune Disease due to ITCH Deficiency

    More Symptoms of ITCH E3 ubiquitin ligase deficiency » Names and Terminology References Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 10775/ itch-e3-ubiquitin-ligase-deficiency[familydiagnosis.com] (Mouse Homolog) E3 Ubiquitin Protein Ligase 2 Itchy E3 Ubiquitin Protein Ligase Homolog (Mouse) 2 E3 Ubiquitin-Protein Ligase Itchy Homolog 3 Itchy E3 Ubiquitin Protein Ligase[genecards.org] Human ITCH E3 Ubiquitin Ligase Deficiency In a Non-Amish Girl Lina Ghaloul-Gonzalez1, Marianne McGuire2, Henry Joel Mroczkowski 3, Tiffany Hughly1, Jerry Vockley1,4 1Department[epostersonline.com] @article{0fd308af868f47938d88365ff4dbbdb7, title "Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease", abstract "Ubiquitin ligases play[indiana.pure.elsevier.com]

    Missing: CHFR
  • Lafora Disease

    Here, we demonstrate that malin is a single subunit E3 ubiquitin (Ub) ligase and that its RING domain is necessary and sufficient to mediate ubiquitination.[ncbi.nlm.nih.gov] EC: 2.3.2.27 Pathway i : protein ubiquitination This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.[uniprot.org] In addition, we found that malin shares significant identity with the E3-ubiquitin ligase TRIM32.[ncbi.nlm.nih.gov] Since malin is an ubiquitin ligase and its mutations cause LD, it is hypothesized that improper clearance of its substrates might lead to LD pathogenesis.[ncbi.nlm.nih.gov]

    Missing: CHFR
  • Angelman Syndrome

    We have now devised a protocol to screen for substrates of this particular ubiquitin ligase.[ncbi.nlm.nih.gov] The UBE3A gene, which encodes E3 ubiquitin ligase, shows tissue-specific imprinting, being expressed entirely from the maternal allele.The diagnosis of AS is confirmed either[ncbi.nlm.nih.gov] While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A[ncbi.nlm.nih.gov] […] report a patient with a novel mutation in the UBE3A gene that consists of a deletion of the termination codon (c.2556-* 6del GTAAAACAAA) and results in an elongated protein E3[ncbi.nlm.nih.gov]

    Missing: CHFR
  • Sarcotubular Myopathy

    Hundreds of E3 ligases have been identified many of which have disease associations (6).[sciencepop.org] Molecular pathology Defects of TRIM32, which encodes a trim motif protein that acts as an E3 ubiquitin-protein ligase, cause limb-girdle muscular dystrophy type 2H.[medical-dictionary.thefreedictionary.com] […] maybe involved in protein-protein interaction, noteworthy lentiviral TAT protein through its NHL repeats interacting with the head and neck region of myosin E3 ubiquitin[genatlas.medecine.univ-paris5.fr] […] cell compartments. 1 reference stated in Crossref reference URL retrieved 21 January 2018 RING protein Trim32 associated with skin carcinogenesis has anti-apoptotic and E3[wikidata.org]

    Missing: CHFR
  • X-Linked Intellectual Disability Type Nascimento

    Other mammalian ortholog(s) used D. melanogaster Gene Information (1) Gene Snapshot Ubiquitin conjugating enzyme 6 is an enzyme that acts together with E3 ubiquitin ligases[flybase.org] Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases.[ab-y-ss.com] Details Ube2A is an E2 enzyme, which is part of the E1, E2, and E3 cascade responsible for ubiquitination of protein substrates.[ubpbio.com] In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to[abcam.com]

    Missing: CHFR
  • Influenza

    RNA ligation RNA was circularized overnight at 4  C with T4 RNA ligase (Epicentre).[dx.doi.org] Can J Cardiol. 2017 Oct;33(10):1335.e1-1335.e3. doi: 10.1016/j.cjca.2017.06.006. Epub 2017 Jun 15.[ncbi.nlm.nih.gov] Influenza B virus NS1 protein inhibits conjugation of the interferon (IFN)-induced ubiquitin-like ISG15 protein. EMBO J . 2001 ; 20 : 362 – 71 .[doi.org] PLoS Med. 2006, 3: e3-10.1371/journal.pmed.0030003.[dx.doi.org]

    Missing: CHFR
  • Malignant Neoplasm

    After circularization with T4 DNA ligase, plasmids were used to electrotransform Escherichia coli C (Δ LacZ , galE ‐) cells by electroporation.[doi.org] Conneely Leukemia (2018) The inhibition of UBC13 expression and blockage of the DNMT1-CHFR-Aurora A pathway contribute to paclitaxel resistance in ovarian cancer Xu Zhang[doi.org] Gastroenterology 2013 , 144 , 903–911.e3. [ Google Scholar ] [ CrossRef ] [ PubMed ] Moore, K.W.; de Waal Malefyt, R.; Coffman, R.L.; O’Garra, A.[mdpi.com] Zheng, Zhenping Chen, Liwei Sun, Hailong Wang, Yuanxiang Zhu, Jing Zhang, Shuyan Yang, Yi Lu, Qinmiao Sun, Yi Tao, Feng Liu, Yun Zhao and Dahua Chen , Activation of Smurf E3 Ligase[dx.doi.org]

    Missing: Ubiquitin Protein
  • Mulibrey Nanism Syndrome

    TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.[uniprot.org] The TRIM37 protein has been shown to localize, at least partially, to the peroxisomes and to possess E3 ubiquitine ligase activity, implying defective proteasomal degradation[oxfordmedicine.com] ] 83737 ITCH; itchy E3 ubiquitin protein ligase [KO: K05632 ] [EC: 2.3.2.26 ] 11059 WWP1; WW domain containing E3 ubiquitin protein ligase 1 [KO: K05633 ] [EC: 2.3.2.26 ][genome.jp] TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.[uniprot.org]

    Missing: CHFR