Note that this locus is complex: it appears to produce several proteins with no sequence overlap.
Expression: According to AceView, this gene is expressed at high level, 3.3 times the average gene in this release. The sequence of this gene is defined by 383 GenBank accessions from 345 cDNA clones, some from prostate (seen 28 times), brain (23), neuroblastoma cot 50-normalized (15), lung (14), testis (14), placenta cot 25-normalized (13), pancreas (12) and 119 other tissues. We annotate structural defects or features in 6 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 36 distinct introns (34 gt-ag, 2 others). Transcription produces 25 different mRNAs, 23 alternatively spliced variants and 2 unspliced forms. There are 8 probable alternative promotors, 5 non overlapping alternative last exons and 14 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 5 cassette exons, overlapping exons with different boundaries, splicing versus retention of 6 introns. 197 bp of this gene are antisense to spliced gene COMT, raising the possibility of regulated alternate expression.
12 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, fAug10, qAug10, sAug10).
Function: There are 33 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Alzheimer Disease; Breast Neoplasms; Drug Toxicity; Edema; oxidative stress), proposed to participate in pathway (Pyrimidine metabolism) and processes (response to oxygen radical, cell redox homeostasis, oxidation reduction, response to selenium ion). Proteins are expected to have molecular functions (FAD binding, NADP or NADPH binding, oxidoreductase activity, protein binding, protein homodimerization activity, thioredoxin-disulfide reductase activity) and to localize in various compartments (mitochondrion, cytoplasm, extracellular space). Putative protein interactors have been described (AMPD1ANDDENND2CANDBCAS2, NCOA2, NCOA6, NCOR1, PSMC3).
Protein coding potential: 23 spliced and the unspliced mRNAs putatively encode good proteins, altogether 23 different isoforms (17 complete, 3 COOH complete, 3 partial), some containing domains FAD dependent oxidoreductase, FAD binding domain, Pyridine nucleotide-disulphide oxidoreductase, Pyridine nucleotide-disulphide oxidoreductase, Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain [Pfam], a N-myristoylation domain [Psort2]; 1 of the 17 complete proteins appears to be secreted. The remaining mRNA variant (unspliced) appears not to encode a good protein.
2 isoforms are annotated using as Met a Kozak-compatible non-AUG start, thereby gaining a minimum of 94 amino acids N-terminal to the first AUG. Finally proteins from this gene may be modulated by acetylation; phosphorylation; ubiquitination, 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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