Entry - *114212 - CALCYPHOSINE; CAPS - OMIM
 
* 114212

CALCYPHOSINE; CAPS


HGNC Approved Gene Symbol: CAPS

Cytogenetic location: 19p13.3     Genomic coordinates (GRCh38): 19:5,914,254-5,916,211 (from NCBI)


TEXT

Description

Calcyphosine was first described as a potentially important regulatory protein in the dog thyroid (Lefort et al., 1989). It is a calcium-binding protein with 4 EF-hand domains whose synthesis and phosphorylation is upregulated by cAMP agonists in thyrocytes.


Cloning and Expression

Using canine calcyphosine as probe, El Housni et al. (1997) cloned human calcyphosine from a thyroid cDNA library. The deduced 189-amino acid protein has a molecular mass of about 24 kD by Western blot analysis. Human CAPS shares extensive sequence conservation with the sequences from dog and rabbit. Northern and Western blot analyses revealed that expression in human thyroid tissue is relatively lower than that in dog.


Mapping

Lefort et al. (1990) isolated a genomic clone for human calcyphosine from the Maniatis library using a probe corresponding to the coding region of the dog calcyphosine cDNA. Using this clone, they mapped the CAPS gene to chromosome 19p13.3 by in situ hybridization.


REFERENCES

  1. El Housni, H., Radulescu, A., Lecocq, R., Dumont, J. E., Christophe, D. Cloning and sequence analysis of human calcyphosine complementary DNA. Biochim. Biophys. Acta 1352: 249-252, 1997. [PubMed: 9224948, related citations] [Full Text]

  2. Lefort, A., Lecocq, R., Libert, F., Lamy, F., Swillens, S., Vassart, G., Dumont, J. E. Cloning and sequencing of a calcium-binding protein regulated by cyclic AMP in the thyroid. EMBO J. 8: 111-116, 1989. [PubMed: 2540953, related citations] [Full Text]

  3. Lefort, A., Passage, E., Libert, F., Szpirer, J., Vassart, G., Mattei, M.-G. Localization of human calcyphosine gene (CAPS) to the p13.3 region of chromosome 19 by in situ hybridization. Cytogenet. Cell Genet. 54: 154-155, 1990. [PubMed: 2265558, related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 11/08/2002
Creation Date:
Victor A. McKusick : 2/26/1991
mgross : 11/08/2002
supermim : 3/16/1992
carol : 2/27/1991
carol : 2/26/1991

* 114212

CALCYPHOSINE; CAPS


HGNC Approved Gene Symbol: CAPS

Cytogenetic location: 19p13.3     Genomic coordinates (GRCh38): 19:5,914,254-5,916,211 (from NCBI)


TEXT

Description

Calcyphosine was first described as a potentially important regulatory protein in the dog thyroid (Lefort et al., 1989). It is a calcium-binding protein with 4 EF-hand domains whose synthesis and phosphorylation is upregulated by cAMP agonists in thyrocytes.


Cloning and Expression

Using canine calcyphosine as probe, El Housni et al. (1997) cloned human calcyphosine from a thyroid cDNA library. The deduced 189-amino acid protein has a molecular mass of about 24 kD by Western blot analysis. Human CAPS shares extensive sequence conservation with the sequences from dog and rabbit. Northern and Western blot analyses revealed that expression in human thyroid tissue is relatively lower than that in dog.


Mapping

Lefort et al. (1990) isolated a genomic clone for human calcyphosine from the Maniatis library using a probe corresponding to the coding region of the dog calcyphosine cDNA. Using this clone, they mapped the CAPS gene to chromosome 19p13.3 by in situ hybridization.


REFERENCES

  1. El Housni, H., Radulescu, A., Lecocq, R., Dumont, J. E., Christophe, D. Cloning and sequence analysis of human calcyphosine complementary DNA. Biochim. Biophys. Acta 1352: 249-252, 1997. [PubMed: 9224948] [Full Text: https://doi.org/10.1016/s0167-4781(97)00073-0]

  2. Lefort, A., Lecocq, R., Libert, F., Lamy, F., Swillens, S., Vassart, G., Dumont, J. E. Cloning and sequencing of a calcium-binding protein regulated by cyclic AMP in the thyroid. EMBO J. 8: 111-116, 1989. [PubMed: 2540953] [Full Text: https://doi.org/10.1002/j.1460-2075.1989.tb03354.x]

  3. Lefort, A., Passage, E., Libert, F., Szpirer, J., Vassart, G., Mattei, M.-G. Localization of human calcyphosine gene (CAPS) to the p13.3 region of chromosome 19 by in situ hybridization. Cytogenet. Cell Genet. 54: 154-155, 1990. [PubMed: 2265558] [Full Text: https://doi.org/10.1159/000132981]


Contributors:
Patricia A. Hartz - updated : 11/08/2002

Creation Date:
Victor A. McKusick : 2/26/1991

Edit History:
mgross : 11/08/2002
supermim : 3/16/1992
carol : 2/27/1991
carol : 2/26/1991