Ret Finger Protein Like Protein 1 (RFPL1)

The deduced 287-amino acid RFPL1 protein is 91 to 94% identical to RFPL2 and RFPL3. Exon 1 of RFPL1 encodes a putative RING-like motif, which is 29% identical to that of RFP, and exon 2 encodes a B30-2 domain, which is 41% identical to that of RFP.Northern blot analysis revealed expression of a 1.5-kb RFPL1 transcript that was abundant in prostate and less abundant in adult brain, fetal liver, and fetal kidney. A 1.2-kb transcript strongly expressed in testis and a 6-kb transcript strongly expressed in adult and fetal brain appeared to represent RFPL3S and RFPL1S, respectively. Analysis of a family with Opitz syndrome and unrelated normal individuals resulted in the detection of a polymorphic protein-truncating allele of RFPL1 that was not associated with the OS phenotype.