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Fig. 1 | Human Genomics

Fig. 1

From: TRPM3_miR-204: a complex locus for eye development and disease

Fig. 1

TRPM3_miR-204 gene organization and protein coding domains. Schematic of the human TRPM3 gene (TRPM3) coding for RefSeq transcript-variant 9 and channel-isoform k. The non-coding miR-204 gene (MIR204) is located in intron-9 of TRPM3. Exons are indicated by numbered boxes (1–30). Codon numbers are shown below each coding exon (exons 3, 9, 16, and 30 are skipped). ATG denotes alternative translation start-sites. Asterisk denotes translation stop-site. Mutations in TRPM3 (exon 4 and 29) and MIR204 (intron 9) underlying human eye disease are shown in red. The approximate locations of TRPM3 protein coding domains are indicated as follows. TRPM-start, consensus start of the N-terminal TRPM homology domain (~ 700 amino acids). CaM/S100A1/PI(4,5)P2, calmodulin, S100A1 Ca2+-binding protein, and phosphatidylinositol-4,5-biphosphate binding domains. CaM2–5, calmodulin binding domains 2–5. ICF, indispensable for channel function. S1-S4, transmembrane segments 1–4, S5-P-S6, canonical pore flanked by transmembrane segments 5 and 6. TRP1–2, TRP box/motif 1 and 2. C-C, coiled-coil domain. The insertion site of a gene-targeting construct (IRES-lacZ-neo) used to generate a null allele in the mouse TRPM3 gene (Trpm3) is located in exon 20

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