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1,605 Possible Causes for E3, TRIM31,, human, 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] PARK2 (untagged)-Human Parkinson disease (autosomal recessive, juvenile) 2, parkin (cDNA clone MGC:26491 IMAGE:4824892), complete cds Product images Specifications Documents[origene.com] 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] Description PARK2 Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 485 amino acids (1-465) and having a molecular mass of 53.8[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: TRIM31
  • 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] Itch Polyclonal Antibody for Human Itch Monoclonal Antibody for Human Itch Monoclonal Antibody for Human Itch R&D Technical Data For more information, please refer to the[eiaab.com] 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: TRIM31
  • 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 preface provides a wonderful synopsis of human genetics. The information contained in this text serves as a concise review for those with a genetics background."[books.google.com] 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] Mendelian inheritance in man : a catalog of human genes ... (12. ed.). Baltimore, Md.: Johns Hopkins. ISBN 9780801857423. Retrieved 29 July 2017. PubMed[en.wikipedia.org] Genetics}, year {2014}, volume {133}, pages {939-949} } Lina Basel-Vanagaite , Rüstem Yilmaz , 17 authors Guntram Borck Published 2014 in Human Genetics DOI: 10.1007/s00439[semanticscholar.org]

    Missing: TRIM31
  • 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] We have developed a human LD mutation database using a new generic biological database cross‐referencing platform.[doi.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: TRIM31
  • Influenza

    RNA ligation RNA was circularized overnight at 4  C with T4 RNA ligase (Epicentre).[dx.doi.org] Influenza B virus NS1 protein inhibits conjugation of the interferon (IFN)-induced ubiquitin-like ISG15 protein. EMBO J . 2001 ; 20 : 362 – 71 .[doi.org] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[ncbi.nlm.nih.gov] 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] PLoS Med. 2006, 3: e3-10.1371/journal.pmed.0030003.[dx.doi.org]

    Missing: TRIM31
  • 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] Makuria, Willy Albert Flegel The human ACKR1 gene encodes a glycoprotein expressing the Duffy blood group antigens (Fy).[readbyqxmd.com] 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: TRIM31
  • Angelman Syndrome

    We have now devised a protocol to screen for substrates of this particular ubiquitin ligase.[ncbi.nlm.nih.gov] We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms[ncbi.nlm.nih.gov] MSS, CJC, and RLT designed human EEG analyses. MSS conducted mouse studies and analyzed both mouse and human data. LMB provided AS patient data.[doi.org] 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]

    Missing: TRIM31
  • Herpes Simplex Virus 1 Infection

    We found that there is a nuclear retention force in an ICP0 E3 ubiquitin ligase-dependent manner.[ncbi.nlm.nih.gov] We examined whether human neuronal cells (primary human neurons, NT2-N and CHP-212 cells) express TLRs and mount type I IFN-mediated innate immunity against herpes simplex[ncbi.nlm.nih.gov] Expression of the viral protein ICP0, which possesses E3 ubiquitin ligase activity, was both necessary and sufficient for the degradation of the 111-kDa PARG isoform.[ncbi.nlm.nih.gov] Abstract The cellular protein IFI16 colocalizes with the herpes simplex virus 1 (HSV-1) ubiquitin ligase ICP0 at early times of infection and is degraded as infection progresses[ncbi.nlm.nih.gov] Abstract Following primary infection Herpes simplex virus-1 (HSV-1) establishes lifelong latency in the neurons of human sensory ganglia.[ncbi.nlm.nih.gov]

    Missing: TRIM31
  • LIG4 Syndrome

    Term Name: DNA ligase IV deficiency Search Ontology: Synonyms: LIG4 Syndrome Definition: A combined T cell and B cell immunodeficiency that has material basis in a mutation[zfin.org] […] a ubiquitin-dependent signaling cascade at sites of DNA damage .[cambridge.org] Full-Text Paper (PDF): Multiple ERβ antisera label in ERβ knockout and null mouse tissues H150 Santa Cruz, sc-8974 Amino acids 1–150 of human ER regulates the ubiquitin E3[clippingpathtoindia.com] The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.[humpath.com] Disease Ontology Browser DNA ligase IV deficiency ( DOID:0060021 ) Alliance: disease page Synonyms: LIG4 Syndrome Alt IDs: OMIM:606593 Definition: A combined T cell and B[informatics.jax.org]

    Missing: TRIM31
  • 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] Symptoms of Sarcotubular myopathy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Mask-like facies Neck flexor weakness Weakness[familydiagnosis.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] Human Mutation 30 (10) , E831-E844. 10.1002/humu.21063 Full text not available from this repository.[orca.cf.ac.uk]

    Missing: TRIM31