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 high level, 3.5 times the average gene in this release. The sequence of this gene is defined by 406 GenBank accessions from 357 cDNA clones, some from uterus (seen 31 times), placenta (21), testis (19), brain (13), placenta cot 25-normalized (13), prostate (11), breast carcinoma (9) and 109 other tissues. We annotate structural defects or features in 34 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 86 distinct introns (80 gt-ag, 5 gc-ag, 1 other). Transcription produces 43 different mRNAs, 39 alternatively spliced variants and 4 unspliced forms. There are 16 probable alternative promotors, 13 non overlapping alternative last exons and 15 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 38 cassette exons, overlapping exons with different boundaries, splicing versus retention of 7 introns. 136 bp of this gene are antisense to spliced gene TCTN3, 8742 to LOC728558, raising the possibility of regulated alternate expression.
3 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 aAug10, cAug10, eAug10, fAug10, gAug10, jAug10, kAug10, lAug10, mAug10, nAug10, qAug10, tAug10, vbAug10, vdAug10).
Function: There are 45 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Alzheimer Disease; Inflammation; Pancreatic Diseases; Reperfusion Injury; Thrombosis), proposed to participate in pathways (Purine metabolism, Pyrimidine metabolism) and processes (blood coagulation, cell adhesion). Proteins are expected to have molecular functions (ATP binding, hydrolase activity, nucleotide binding) and to localize in various compartments (integral to plasma membrane, cytoplasm, endoplasmic reticulum membrane). A putative protein interactor has been described (RANBP9).
Protein coding potential: 31 spliced mRNAs putatively encode good proteins, altogether 29 different isoforms (19 complete, 4 COOH complete, 6 partial), some containing GDA1/CD39 (nucleoside phosphatase) family domain [Pfam], some transmembrane domains, a N-myristoylation domain, a vacuolar domain, a coiled coil stretch [Psort2]. The remaining 11 mRNA variants (8 spliced, 3 unspliced; 2 partial) appear not to encode good proteins.
3 isoforms are annotated using as Met a Kozak-compatible non-AUG start, thereby gaining a minimum of 90 amino acids N-terminal to the first AUG. 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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