Gene Location and Transcription
The DISC1 gene is situated at chromosome 1q42.1 and overlaps with DISC2 open reading frame. Multiple DISC1 isoforms have been identified at the RNA level, including a TSNAX-DISC1 transgene splice variant, and at the protein level. Of the isolated RNA isomers, 4 have been confirmed to be translated namely Long form (L), Long variant isoform (Lv), Small isoform (S), and Especially small isoform (Es). Human DISC1 is transcribed as two major splice variants, L form and Lv isoform. The L and Lv transcripts utilize distal and proximal splice sites, respectively, within exon 11. The L and Lv protein isoforms differ by only 22 amino acids within the C-terminus.
Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
DISC1 homologues have been identified in all major vertebrate families including the common chimpanzee, the Rhesus monkey, the house mouse, the brown rat, zebrafish, pufferfish, cattle, and dogs; additionally homologue's have been described for invertebrate and plant phyla.
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