Note that this locus is complex: it appears to produce several proteins with no sequence overlap, and it merges 3 different NCBI genes.
Expression: According to AceView, this gene is expressed at very high level, 6.3 times the average gene in this release. The sequence of this gene is defined by 860 GenBank accessions, some from brain (seen 83 times), hippocampus (57), amygdala (39), thalamus (33), placenta (21), cerebellum (18), hypothalamus (15) and 123 other tissues. We annotate structural defects or features in 2 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 50 distinct introns (45 gt-ag, 4 gc-ag, 1 other). Transcription produces 49 different mRNAs, 41 alternatively spliced variants and 8 unspliced forms. There are 9 probable alternative promotors, 12 non overlapping alternative last exons and 16 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 21 cassette exons, overlapping exons with different boundaries, splicing versus retention of 4 introns.
6 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 cAug10, dAug10, hAug10, iAug10, nAug10, sAug10).
Function: There are 12 articles specifically referring to this gene in PubMed. Functionally, the gene has been proposed to participate in processes (mitotic metaphase plate congression, molecular hydrogen transport, oxidation reduction, ribosome biogenesis). Proteins are expected to have molecular functions (hydroxyacid-oxoacid transhydrogenase activity, metal ion binding, oxidoreductase activity) and to localize in various compartments (condensed nuclear chromosome, nucleolus, cytoplasm, extracellular space, membrane, mitochondrion, nucleus). A putative protein interactor has been described (APPBP2).
Protein coding potential: 26 spliced and 2 unspliced mRNAs putatively encode good proteins, altogether 26 different isoforms (17 complete, 6 COOH complete, 3 partial), some containing domains Iron-containing alcohol dehydrogenase, Ribosome biogenesis regulatory protein (RRS1) [Pfam]; 1 of the 18 complete proteins appears to be secreted. The remaining 19 mRNA variants (15 spliced, 4 unspliced; 4 partial) appear not to encode good proteins.

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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