Entry - *176992 - S100 CALCIUM-BINDING PROTEIN A3; S100A3 - OMIM
 
* 176992

S100 CALCIUM-BINDING PROTEIN A3; S100A3


Alternative titles; symbols

S100E


HGNC Approved Gene Symbol: S100A3

Cytogenetic location: 1q21.3     Genomic coordinates (GRCh38): 1:153,547,329-153,549,258 (from NCBI)


TEXT

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.


REFERENCES

  1. 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, related citations] [Full Text]

  2. 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, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 8/25/1993
carol : 06/08/2018
alopez : 10/12/1998
mark : 12/21/1996
mark : 6/15/1995
carol : 1/23/1995
carol : 8/25/1993

* 176992

S100 CALCIUM-BINDING PROTEIN A3; S100A3


Alternative titles; symbols

S100E


HGNC Approved Gene Symbol: S100A3

Cytogenetic location: 1q21.3     Genomic coordinates (GRCh38): 1:153,547,329-153,549,258 (from NCBI)


TEXT

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.


REFERENCES

  1. 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]

  2. 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]


Creation Date:
Victor A. McKusick : 8/25/1993

Edit History:
carol : 06/08/2018
alopez : 10/12/1998
mark : 12/21/1996
mark : 6/15/1995
carol : 1/23/1995
carol : 8/25/1993