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, 5.1 times the average gene in this release. The sequence of this gene is defined by 597 GenBank accessions from 537 cDNA clones, some from lung (seen 35 times), kidney (27), lymph (23), breast normal (22), lymphoma, cell line (22), colon (20), testis (20) and 159 other tissues. We annotate structural defects or features in 60 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 58 distinct introns (55 gt-ag, 3 gc-ag). Transcription produces 19 different mRNAs, 16 alternatively spliced variants and 3 unspliced forms. There are 10 probable alternative promotors, 4 non overlapping alternative last exons and 7 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 2 cassette exons, overlapping exons with different boundaries. 229 bp of this gene are antisense to spliced gene SCARNA17, raising the possibility of regulated alternate expression.
Note that mRNA .jAug10 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 aAug10, cAug10, dAug10, fAug10, gAug10, iAug10).
Function: There are 24 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (diarrhea 2, with microvillus atrophy; Microvillus inclusion disease), proposed to participate in pathways (Fatty acid elongation in mitochondria, Fatty acid metabolism, Metabolic pathways, Valine, leucine and isoleucine degradation) and processes (cholesterol biosynthetic process, fatty acid metabolic process, lipid metabolic process, protein transport, regulation of protein localization). Proteins are expected to have molecular functions (acetyl-CoA C-acyltransferase activity, actin binding, ATP binding, calmodulin binding and 5 others) and to localize in various compartments (mitochondrion, cytoplasm, membrane, dendritic spine and 5 others). Putative protein interactors have been described (COIL, CXCR2, RAB11A, RAB11B, RAB11FIP2, RAB25, SCP2, SMAD3).
Protein coding potential: 14 spliced and the unspliced mRNAs putatively encode good proteins, altogether 15 different isoforms (5 complete, 3 COOH complete, 7 partial), some containing domains DIL domain, IQ calmodulin-binding motif, Myosin head (motor domain), Thiolase, C-terminal domain, Thiolase, N-terminal domain [Pfam], some transmembrane domains, a second peroximal domain, a coiled coil stretch [Psort2]. The remaining 4 mRNA variants (2 spliced, 2 unspliced; 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 acetylation; mono-methylation; 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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