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Some Sp100 variants contain a domain similar to two interferon-inducible nuclear phosphoproteins, suppressin and DEAF1. This defines a novel protein motif, the HNPP-box. Another class of variants has high mobility group 1 (HMG1) protein sequence as a domain. Both major classes of Sp100 splice variant proteins localize in part to nuclear dots ...
The primary components of the nuclear dots are the proteins sp100 nuclear antigen, LYSP100(a homolog of sp100), [12] ISG20, [13] PML antigen, NDP55 and 53kDa protein associated with the nuclear matrix. [14] Other proteins, such as PIC1/SUMO-1, which are associated with nuclear pore complex also associate with nuclear dots. [15]
Anti-sp100 antibodies are found in association with primary biliary cirrhosis. [1] The autoimmune target of anti-sp100 is the sp100 nuclear antigen which was identified by its association with primary biliary cirrhosis . 20-30% of patients with primary biliary cirrhosis have sp100 Abs.
This protein domain has a conserved region of around 80 residues.Mutations in this region lead to various human diseases, particularly in these proteins: Sp100 (Speckled protein 100 kDa), NUDR (Nuclear DEAF-1 related), GMEB (Glucocorticoid Modulatory Element Binding) proteins and AIRE-1 (Autoimmune regulator 1) proteins.
Several members of the S100 protein family are useful as markers for certain tumors and epidermal differentiation. They can be found in melanomas , [ 8 ] 100% of schwannomas , 100% of neurofibromas (weaker than schwannomas), 50% of malignant peripheral nerve sheath tumors (may be weak and/or focal), paraganglioma stromal cells, histiocytoma ...
Some disorders, such as systemic lupus erythematosus (SLE) may be more likely if several autoantibodies are present, while others, such as mixed connective tissue disease (MCTD) may be more likely if a single autoantibody, ribonucleic protein (RNP), is the only one present. Those who have more than one autoimmune disorder may have several ...
[68] [69] In PBC anti-mitochondrial antibodies are directed toward three mitochondrial autoantigens (pyruvate dehydrogenase, oxoglutarate dehydrogenase, branched-chain alpha-keto acid dehydrogenase), two or more nuclear proteins (nucleoporin 210kDa, nucleoporin 62kDa, centromere protein, and sp100), and 57% of acute liver failure patients have ...
6667 20683 Ensembl ENSG00000185591 ENSMUSG00000001280 UniProt P08047 O89090 RefSeq (mRNA) NM_001251825 NM_003109 NM_138473 NM_013672 RefSeq (protein) NP_001238754 NP_003100 NP_612482 NP_038700 Location (UCSC) Chr 12: 53.38 – 53.42 Mb Chr 15: 102.31 – 102.34 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transcription factor Sp1, also known as specificity protein 1* is a protein ...
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