Alternative titles; symbols
HGNC Approved Gene Symbol: S100A5
Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,537,147-153,543,685 (from NCBI)
The S100 proteins are small EF-hand calcium-binding proteins that display different expression patterns in human tissues (summary by Engelkamp et al., 1993).
Engelkamp et al. (1993) cloned human S100D (S100A5), which encodes a deduced 114-amino acid protein that shares 54%, 53%, and 52% sequence identity with CACY (S100A6; 114110), CAPL (S100A4; 114210), and S100L (S100A2; 176993), respectively. Northern blot analysis detected no S100D transcript. Quantitative PCR showed low general expression of S100D in diaphragm, heart, muscle, skeletal muscle, stomach, lung, liver, fat tissue, placenta, and neuronal tissues.
Engelkamp et al. (1993) determined that the S100D gene contains 4 exons. The first exon is not translated.
Engelkamp et al. (1993) established the physical linkage of 6 S100 genes by pulsed field gel electrophoresis and DNA sequencing of 15 kb containing the full coding region of 4 different S100 genes: S100E (S100A3; 176992), CAPL, S100D, and CACY. Engelkamp et al. (1993) stated that 'this is the tightest mammalian gene cluster discovered so far.' The cluster was assigned to 1q21 by in situ hybridization. Two other S100 genes were located within 450 kb: S100L and S100A (S100A1; 176940).
Schafer et al. (1995) isolated a YAC from 1q21 on which 9 different genes coding for S100 calcium-binding proteins could be localized. The clustered organization of S100 genes allowed introduction of a new logical nomenclature based on their physical arrangement on the chromosome, with S100A1 being closest to the telomere and S100A9 (123886) being closest to the centromere. In this nomenclature, S100D became S100A5.
Engelkamp, D., Schafer, B. W., Mattei, M. G., Erne, P., Heizmann, C. W. Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. Proc. Nat. Acad. Sci. 90: 6547-6551, 1993. [PubMed: 8341667] [Full Text: https://doi.org/10.1073/pnas.90.14.6547]
Schafer, B. W., Wicki, R., Engelkamp, D., Mattei, M.-G., Heizmann, C. W. Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of the S100 calcium-binding protein family. Genomics 25: 638-643, 1995. [PubMed: 7759097] [Full Text: https://doi.org/10.1016/0888-7543(95)80005-7]