Figure 3.
Structures of the Gene and the Encoded Protein for the SNF2 Domain–Containing Protein CLSY1.
(A) Intron–exon structure of the coding region showing the mutations identified in the PSuc2:PDS screen.
(B) Diagrammatic representation of the predicted 1256–amino acid CLSY1 protein indicating proposed structural domains and the effect of four mutations on the protein-coding region. The acidic domain is a region of 18 amino acids of which 15 are Glu or Asp. SNF2 is the area defined by pfam00176, and helicase C (HelicC) is the region defined by cd00079, as identified by National Center for Biotechnology Information conserved domains search.
(C) Protein sequence of CLSY1 indicating the motifs discussed in the text. The nuclear localization signal and CLASSY sequence are indicated in boldface type, while the SNF2 and helicase C domains are underlined.
(D) Structure of the CLSY1 5′ UTR. The graph indicates the relative transcriptional start site of 41 cDNAs sequenced relative to the translational start site (0). cDNAs indicated by black dots have an intron (−452 to −46 nucleotides) of the length indicated by the black line above the graph spliced out of the RNA. The one cDNA with an intron from −461 to −46 nucleotides is indicated by a dark gray dot, with a dark gray line above representing the intronic region. cDNAs with a shorter intron (−343 to −46 nucleotides; dashed line) are represented by striped dots, while cDNAs with no introns removed are indicated by white dots. Upstream open reading frames (uORFs) coded within the 5′ UTR are shown by representative lines below the graph. See Supplemental Tables 2 and 3 online for further details.