Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:6.3.2.19 (ubiquitin-protein ligase)
 799 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

PCTAIRE-1 is a cdc2-related protein kinase of unknown function. The gene (PCTK1) has been mapped to chromosome Xp. In this study we refine the locus position by chromosome analysis with cosmid and YAC probes. PCTK1 maps distal to the t(X;18) synovial sarcoma breakpoint in Xp11.23. A 420-kb YAC clone positive for PCTK1 also contains the gene coding for ubiquitin-activating enzyme UBE1, previously mapped in Xp11.3, indicating close physical linkage of these genes. PCTK1 is a new candidate for heritable disorders mapped to Xp11.3--p11.23 region.
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PMID:Physical linkage of the cdc2-related gene (PCTK1) and the ubiquitin-activating enzyme E1 gene (UBE1) on human Xp11.3. 765 87

We have carried out cytogenetic studies on a series of ten synovial sarcomas. Five of these tumours contained the characteristic reciprocal translocation t(X;18) (p11.2;q11.2) and a further two tumours contained complex rearrangements involving chromosomes X and 18. Secondary clonal alterations were seen in four tumours. Candidate genes at Xp11.2-p11.3 have been assessed for involvement in the translocation by Northern and Southern analysis: genes encoding transcription factors (ELK1 and TFE3), a metalloproteinase inhibitor (TIMP-1), a ubiquitin-activating enzyme (UBE1), a serine-threonine kinase (ARAF1) and the neural cell phosphoprotein synapsin 1 (SYN1). We found no evidence of abnormal transcription or rearrangements of these genes in a panel of synovial sarcoma biopsies and cell lines, indicating that they are not directly involved in the t(X;18) chromosome translocation.
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PMID:Cytogenetic and molecular analysis of synovial sarcoma. 2158 11