Alternative titles; symbols
HGNC Approved Gene Symbol: TSPAN31
Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,745,039-57,750,219 (from NCBI)
Meltzer et al. (1991) identified and partially cloned a gene that is amplified in human malignant fibrous histiocytoma. They designated the gene 'sarcoma amplified sequence' (SAS). Meltzer et al. (1991) identified SAS amplification in 5 of 29 malignant fibrous histiocytoma biopsies, 4 of 12 liposarcoma biopsies, and 1 osteogenic sarcoma cell line. Since amplification of cellular oncogenes occurs frequently in human cancers, identification of amplified genes in tumor cells is a useful approach for understanding genetic alterations.
SAS is a member of the transmembrane 4 superfamily, all members of which have 4 hydrophobic domains. This family includes various tumor-associated antigens such as CO-029 (600769), L6 (M3S1; 191155), and ME491 (CD63; 155740), hematopoietic cell antigens such as CD9 (143030), CD53 (151525), CD37 (151523),and TAPA1 (186845), as well as the parasitic trematode surface proteins Sm23 and Sj23.
Jankowski et al. (1995) characterized the genomic structure of SAS and showed that it has 6 exons spanning approximately 3.2 kb.
Meltzer et al. (1991) demonstrated that the SAS gene is located on chromosome 12 by hybridization to a rodent/human somatic cell hybrid mapping panel. They further regionalized the assignment to 12q13-q14 by fluorescence in situ hybridization. This chromosomal region is commonly involved in rearrangements in myxoid liposarcoma, benign lipoma, and uterine leiomyoma.
Jankowski, S. A., De Jong, P., Meltzer, P. S. Genomic structure of SAS, a member of the transmembrane 4 superfamily amplified in human sarcomas. Genomics 25: 501-506, 1995. [PubMed: 7789984] [Full Text: https://doi.org/10.1016/0888-7543(95)80051-m]
Meltzer, P. S., Jankowski, S. A., Dal Cin, P., Sandberg, A. A., Paz, I. B., Coccia, M. A., Smith, S. H. Identification and cloning of a novel amplified DNA sequence in human malignant fibrous histiocytoma derived from a region of chromosome 12 frequently rearranged in soft tissue tumors. (Abstract) Cytogenet. Cell Genet. 58: 1979 only, 1991.