CHROMOSOME 1 OPEN READING FRAME 116; C1ORF116

Alternative titles; symbols

• SPECIFICALLY ANDROGEN-REGULATED GENE; SARG

HGNC Approved Gene Symbol: C1orf116

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:207,018,520-207,032,760 (from NCBI)

▼ Cloning and Expression

Using differential display PCR to identify transcripts upregulated by a synthetic androgen in human LNCaP cells, followed by screening a prostate cDNA library, Steketee et al. (2004) cloned SARG. The cDNA contains 3 polyadenylation signals, and the deduced protein contains 601 amino acids. Steketee et al. (2004) also identified SARG splice variants lacking exon 2, resulting in a 355-amino acid protein that begins with met247 relative to the full-length protein. Northern blot analysis detected a major 3.3-kb transcript in LNCaP cells. RT-PCR showed SARG expression in prostate, but not in other tissues examined. Immunohistochemical analysis detected SARG in the cytoplasm of LNCaP cells.

▼ Gene Function

Using reporter gene assays, Steketee et al. (2004) showed that a region of SARG intron 1 functioned as an androgen-specific response element in transiently transfected LNCaP cells.

▼ Gene Structure

Steketee et al. (2004) determined that the SARG gene contains 4 exons and spans 14.5 kb. Exon 1, which is untranslated, and exon 2 are alternatively spliced. Intron 1 contains a functional direct repeat androgen response element.

▼ Mapping

By genomic sequence analysis, Steketee et al. (2004) mapped the SARG gene to chromosome 1q32.2.