Note that this locus is complex: it appears to produce several proteins with no sequence overlap, and it merges 2 different NCBI genes.
Expression: According to AceView, this gene is well expressed, 0.7 times the average gene in this release. The sequence of this gene is defined by 86 GenBank accessions from 83 cDNA clones, some from testis (seen 8 times), brain (4), kidney (4), embryonal carcinoma, cell line (3), eye (3), hippocampus (3), adenocarcinoma (2) and 26 other tissues. We annotate structural defects or features in 3 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 50 distinct introns (47 gt-ag, 1 gc-ag, 2 others). Transcription produces 10 alternatively spliced mRNAs. There are 6 probable alternative promotors, 9 non overlapping alternative last exons and 6 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 14 cassette exons, overlapping exons with different boundaries. 73 bp of this gene are antisense to spliced gene cheyshy, 1036 to LOC283392, raising the possibility of regulated alternate expression.
2 variants were isolated in vivo, despite the fact that they are predicted targets of nonsense mediated mRNA decay (NMD).
Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant eAug10, gAug10).
Function: There are 144 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (OMIM: Attention deficit-hyperactivity disorder, susceptibility to, 7; Major Depressive Disorder; Other sources: ADHD; Alcohol-Related Disorders; Attention Deficit Disorder with Hyperactivity; attention-deficit hyperactivity disorder; Autistic Disorder; Bipolar Disorder; Depressive Disorder and 10 others), proposed to participate in pathways (Metabolic pathways, Tryptophan metabolism) and processes (cell-cell signaling, signal transduction, aromatic amino acid family metabolic process, oxidation reduction, proteolysis, serotonin biosynthetic process). Proteins are expected to have molecular functions (amino acid binding, aminopeptidase activity, iron ion binding, metal ion binding, metallopeptidase activity, tryptophan 5-monooxygenase activity, zinc ion binding) and to localize in various compartments (integral to plasma membrane, cytoplasm). A putative protein interactor has been described (REG3A).
Protein coding potential: 7 spliced mRNAs putatively encode good proteins, altogether 7 different isoforms (4 complete, 2 COOH complete, 1 partial), some containing domains ACT domain, Biopterin-dependent aromatic amino acid hydroxylase, Peptidase family M1 [Pfam], some transmembrane domains, a coiled coil stretch [Psort2]. The remaining 3 mRNA variants (3 spliced; 2 partial) appear not to encode good proteins. Finally proteins from this gene may be modulated by acetylation; phosphorylation, as detailed at PhosphoSite. Finally proteins from this gene may be modulated by phosphorylation, as detailed at PhosphoSite.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12

Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
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