Alternative titles; symbols
HGNC Approved Gene Symbol: SNTB1
Cytogenetic location: 8q24.12 Genomic coordinates (GRCh38): 8:120,535,756-120,812,046 (from NCBI)
Dystrophin (300377)-associated protein A1 is a heterogeneous group of phosphorylated proteins consisting of distinct acidic and basic components, designated alpha-A1 and beta-A1, respectively. From the partial peptide sequence of A1 complex purified from rabbit muscle, Ahn et al. (1994) designed oligonucleotide probes that were used to isolate a cDNA for 1 human isoform of A1. This cDNA was found to encode a basic A1 isoform that was distinct from the previously described syntrophins in Torpedo and mouse and was expressed in many tissues with at least 5 distinct mRNA species. Comparison of the human cDNA sequence with the GenBank expressed sequence tag (EST) database identified a sequence related to human skeletal muscle EST25263, which was thought to be a human homolog of mouse syntrophin-2 (see 600027).
By study of a panel of rodent/human somatic cell hybrids followed by fluorescence in situ hybridization, Ahn et al. (1994) mapped the A1B gene to 8q23-q24.
Yang et al. (1994) reviewed the heterogeneity of the 59-kD DAP which is an intracellular protein triplet component of the dystrophin-glycoprotein complex of muscle.
Ahn, A. H., Yoshida, M., Anderson, M. S., Feener, C. A., Selig, S., Hagiwara, Y., Ozawa, E., Kunkel, L. M. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. Proc. Nat. Acad. Sci. 91: 4446-4450, 1994. [PubMed: 8183929] [Full Text: https://doi.org/10.1073/pnas.91.10.4446]
Yang, B., Ibraghimov-Beskrovnaya, O., Moomaw, C. R., Slaughter, C. A., Campbell, K. P. Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J. Biol. Chem. 269: 6040-6044, 1994. [PubMed: 8119949]