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  • Jetse
    Member
    • Nov 2012
    • 38

    Information about a gene

    Hello everyone,

    I want to get some information about a gene with a ensembleID (example: ENSG00000241635)
    When I use the webbrowser, I can find this gene on the uniprot website (example)
    On this webpage there is a reference to the NCBI website with the refseq reference (example)
    On this webpage is a summary like this one of my example:
    Summary: This gene encodes a UDP-glucuronosyltransferase, an enzyme
    of the glucuronidation pathway that transforms small lipophilic
    molecules, such as steroids, bilirubin, hormones, and drugs, into
    water-soluble, excretable metabolites. This gene is part of a
    complex locus that encodes several UDP-glucuronosyltransferases.
    The locus includes thirteen unique alternate first exons followed
    by four common exons. Four of the alternate first exons are
    considered pseudogenes. Each of the remaining nine 5' exons may be
    spliced to the four common exons, resulting in nine proteins with
    different N-termini and identical C-termini. Each first exon
    encodes the substrate binding site, and is regulated by its own
    promoter. The preferred substrate of this enzyme is bilirubin,
    although it also has moderate activity with simple phenols,
    flavones, and C18 steroids. Mutations in this gene result in
    Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
    [provided by RefSeq, Jul 2008].
    Is there an UCSC table with these summaries?

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