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Alternative titles; symbolsS100EHGNC Approved Gene Symbol: S100A3Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,547,328-153,549,257 (from N...

Alternative titles; symbols

  • S100E

HGNC Approved Gene Symbol: S100A3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,547,328-153,549,257 (from NCBI)

▼ Description
The S100 proteins are small EF-hand calcium-binding proteins that display different expression patterns in human tissues (summary by Engelkamp et al., 1993).

▼ Cloning and Expression
Engelkamp et al. (1993) cloned human S100E (S100A3), which encodes a deduced 101-amino acid protein. Different from other S100 proteins was a high content of cysteine residues (10 of the 101 residues). Northern blot analysis detected no S100E transcript. Quantitative PCR showed low general expression of S100E in diaphragm, heart, muscle, skeletal muscle, stomach, lung, liver, and fat and placenta tissues.

▼ Gene Structure
Engelkamp et al. (1993) determined that the S100E gene contains 3 exons. The first exon is not translated.

▼ Mapping
Engelkamp et al. (1993) demonstrated that the S100E protein is encoded by a gene located in a tight cluster of genes of similar structure in a 15-kb region of 1q21. The order of the genes from 5-prime to 3-prime was found to be S100E, CAPL (S100A4; 114210), S100D (S100A5; 176991), CACY (S100A6; 114110). The 4 genes were arranged in head-to-tail order.

Schafer et al. (1995) isolated a YAC clone from 1q21 on which 9 different genes coding for S100 calcium-binding proteins could be localized. Clustered organization allowed introduction of a new logical nomenclature for these genes, based on their physical arrangement on the chromosome, with S100A1 being closest to the telomere and S100A9 (123886) being closest to the centromere. S100E became S100A3 in the new nomenclature.

Tags: 1q21.3