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 expressed at very high level, 5.0 times the average gene in this release. The sequence of this gene is defined by 702 GenBank accessions, some from stomach (seen 30 times), lung (28), skin (26), brain (21), placenta (21), eye (20), liver (19) and 164 other tissues. We annotate structural defects or features in 3 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 28 distinct introns (26 gt-ag, 2 gc-ag). Transcription produces 28 different mRNAs, 24 alternatively spliced variants and 4 unspliced forms. There are 7 probable alternative promotors, 7 non overlapping alternative last exons and 11 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 10 cassette exons, overlapping exons with different boundaries, splicing versus retention of 5 introns.
Note that mRNA .uAug10 was found in vivo, although it is a predicted target 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 bAug10, cAug10).
Function: There are 59 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to a disease (Lupus Erythematosus, Systemic), proposed to participate in pathways (Spliceosome, Systemic lupus erythematosus) and processes (mRNA processing, regulation of transcription, DNA-dependent). Proteins are expected to have molecular functions (DNA binding, metal ion binding, RNA binding, zinc ion binding) and to localize in various compartments (cytoplasm, membrane, nucleus, intracellular, spliceosomal complex). Putative protein interactors have been described (AIRE, ASCC2, C14ORF1, CD2BP2, CLNS1A, COIL, CTDP1, DDX20, DYNC1H1, EFTUD2, FNBP4, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GIGYF2, HTATSF1, IMP3ANDSNUPNANDPTPN9, KHK, LGALS1, LSM11, MEPCE, NPLANDDHX9, PRMT5, PRPF8, PSMA3, RBBP6, SART3, SERF1AANDSMN1, SERF1BANDSMN2, SF3A2, SKIV2L, SMNDC1, SNRNP200, SNRPD1, SNRPD3ANDGGT1, STRAP, STRAP.1, STXBP2, STXBP3, TOP3B, WBP4, WDR77ANDOVGP1, ZNF343ANDSNRPB).
Protein coding potential: 22 spliced and the unspliced mRNAs putatively encode good proteins, altogether 22 different isoforms (14 complete, 1 COOH complete, 7 partial), some containing domains KRAB box, LSM domain, Zinc finger, C2H2 type [Pfam]. The remaining 4 mRNA variants (2 spliced, 2 unspliced) appear not to encode good proteins. Finally proteins from this gene may be modulated by acetylation; di-methylation; mono-methylation; 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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