The LDL receptor gene: a mosaic of exons shared with different proteins.
The multifunctional nature of coated pit receptors predicts that these proteins will contain multiple domains. To establish the genetic basis for these domains (LDL) receptor. This gene is more than 45 kilobases in length and contains 18 exons, most of which correlate with functional domains previously defined at the protein level. Thirteen of the 18 exons encode protein sequences that are homologous to sequences in other proteins: five of these exons encode a sequence similar to one in the C9 component of complement; three exons encode a sequence similar to a repeat sequence in the precursor for epidermal growth factor (EGF) and in three proteins of the blood clotting system (factor IX, factor X, and protein C); and five other exons encode nonrepeated sequences that are shared only with the EGF precursor. The LDL receptor appears to be a mosaic protein built up of exons shared with different proteins, and it therefore belongs to several supergene families.
Südhof
T C
TC
Goldstein
J L
JL
Brown
M S
MS
Russell
D W
DW
D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D003186:Complement C9 / Q000235:genetics; D004247:DNA; D004720:Endonucleases; D004815:Epidermal Growth Factor / Q000235:genetics; D005164:Factor IX / Q000235:genetics; D005170:Factor X / Q000235:genetics; D005796:Genes; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D008970:Molecular Weight; D011486:Protein C; D011498:Protein Precursors; D011499:Protein Processing, Post-Translational; D011973:Receptors, LDL / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D015719:Single-Strand Specific DNA and RNA Endonucleases; D014158:Transcription, Genetic
D003186:Complement C9; D006023:Glycoproteins; D011486:Protein C; D011498:Protein Precursors; D011973:Receptors, LDL; D004815:Epidermal Growth Factor; D005164:Factor IX; D005170:Factor X; D004247:DNA; D004720:Endonucleases; D015719:Single-Strand Specific DNA and RNA Endonucleases