Note that this locus merges 2 different NCBI genes, because some GenBank cDNA has significant sequence overlap or common intron boundaries with both gene models.
Expression: According to AceView, this gene is expressed at high level, 3.9 times the average gene in this release. The sequence of this gene is defined by 611 GenBank accessions, some from lung (seen 43 times), brain (38), prostate (24), uterus (24), small cell carcinoma (20), skin (19), eye (18) and 141 other tissues. We annotate structural defects or features in 3 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 17 distinct gt-ag introns. Transcription produces 7 different mRNAs, 6 alternatively spliced variants and 1 unspliced form. There are 3 probable alternative promotors, 3 non overlapping alternative last exons and 6 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 a cassette exon, overlapping exons with different boundaries, splicing versus retention of 3 introns. 509 bp of this gene are antisense to spliced gene TMPRSS9, raising the possibility of regulated alternate expression.
Note that mRNA .dAug10 was found in vivo, although it is a predicted target of nonsense mediated mRNA decay (NMD).
Function: There are 42 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (OMIM: Lipodystrophy, partial, acquired; Other sources: Carcinoma, Basal Cell; Deafness; Diabetes Mellitus, Lipoatrophic; Dystonia; Leukemia, Promyelocytic, Acute; Lymphatic Metastasis; Skin Neoplasms; Vulvar Neoplasms) and proposed to participate in processes (protein import into mitochondrial inner membrane, protein transport, transmembrane transport). Proteins are expected to have molecular functions (metal ion binding, structural molecule activity) and to localize in various compartments (lamin filament, membrane, mitochondrial intermembrane space protein transporter complex, mitochondrion, nuclear inner membrane, nuclear lamina, nucleus). Putative protein interactors have been described (CAB39, CUL2, HSPE1ANDMOBKL3, LMNB2ANDTIMM13, ORC2L, PRKCD, RAD51, RPA3, TIMM8A, TIMM8B, TMPO, XRCC5).
Protein coding potential: 5 spliced mRNAs putatively encode good proteins, altogether 5 different isoforms (1 complete, 2 COOH complete, 2 partial), some containing domains Intermediate filament protein, Intermediate filament tail domain [Pfam], a prenylation domain, a second peroximal domain, a coiled coil stretch [Psort2]. The remaining 2 mRNA variants (1 spliced, 1 unspliced) appear not to encode good proteins. Finally proteins from this gene may be modulated by acetylation; mono-methylation; phosphorylation; sumoylation; 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.
Read more...