The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene.
A CpG island 30 kb 3' to the human factor VIII gene in Xq28 is associated with a 2-kb transcript. This gene encodes a previously described palmitoylated membrane protein, p55, containing a src homology motif, SH3. Although originally described in reticulocytes, the transcript is expressed in a wide variety of human tissues. The gene is also present in the mouse and expressed in all mouse tissues examined. No known factor VIII gene deletions extend into the p55 gene. Since the function of the p55 protein is not known, the p55 gene is formally a candidate for any of the 19 or more disease genes that have not been isolated but are closely linked genetically to the factor VIII gene.
Metzenberg
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AB
Howard Hughes Medical Institute, University of California, San Francisco 94143-0724.
Gitschier
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D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D004247:DNA; D015226:Dinucleoside Phosphates / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005169:Factor VIII / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D019308:Palmitic Acid; D010169:Palmitic Acids / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics
D004247:DNA; D015226:Dinucleoside Phosphates; D005169:Factor VIII; D008565:Membrane Proteins; D019308:Palmitic Acid; D010169:Palmitic Acids; D012333:RNA, Messenger; C015772:CpG dinucleotide