Entry - *114213 - CALDESMON 1; CALD1 - OMIM
 
* 114213

CALDESMON 1; CALD1


Alternative titles; symbols

CDM


HGNC Approved Gene Symbol: CALD1

Cytogenetic location: 7q33     Genomic coordinates (GRCh38): 7:134,745,467-134,970,729 (from NCBI)


TEXT

Description

Caldesmon, a calmodulin- and actin-binding protein, plays a vital role in the regulation of smooth muscle and nonmuscle contraction (summary by Hayashi et al., 1992).


Cloning and Expression

Humphrey et al. (1992) used a probe encoding part of avian caldesmon to screen a human aorta library and clone smooth-muscle and nonmuscle CDM-encoding cDNAs. The predicted smooth-muscle polypeptide is 793 amino acids long. As in the case of chicken CDM, nonmuscle CDM was missing the central helical domain of 256 amino acids. The nonmuscle form appeared to be generated by exon skipping. Humphrey et al. (1992) suggested that the CDMs are a small family of highly conserved proteins which are probably derived from a single gene.

Hayashi et al. (1992) stated that the high molecular weight caldesmon is predominantly expressed in smooth muscles, whereas the low molecular weight caldesmon is widely distributed in nonmuscle tissues and cells.


Gene Structure

Hayashi et al. (1992) demonstrated that the CDM gene contains 14 exons. The regulation of high molecular weight and low molecular weight caldesmon expression was thought to depend on selection of the 2 5-prime splice sites within exon 3.


Mapping

By fluorescence in situ hybridization, Hayashi et al. (1992) showed that caldesmon is encoded by a single gene located at 7q33-q34.


REFERENCES

  1. Hayashi, K., Yano, H., Hashida, T., Takeuchi, R., Takeda, O., Asada, K., Takahashi, E., Kato, I., Sobue, K. Genomic structure of the human caldesmon gene. Proc. Nat. Acad. Sci. 89: 12122-12126, 1992. [PubMed: 1465449, related citations] [Full Text]

  2. Humphrey, M. B., Herrera-Sosa, H., Gonzalez, G., Lee, R., Bryan, J. Cloning of cDNAs encoding human caldesmons. Gene 112: 197-204, 1992. [PubMed: 1555769, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/15/1992
carol : 10/19/2012
terry : 6/14/1999
dkim : 6/30/1998
randy : 8/31/1996
carol : 1/12/1993
carol : 6/15/1992

* 114213

CALDESMON 1; CALD1


Alternative titles; symbols

CDM


HGNC Approved Gene Symbol: CALD1

Cytogenetic location: 7q33     Genomic coordinates (GRCh38): 7:134,745,467-134,970,729 (from NCBI)


TEXT

Description

Caldesmon, a calmodulin- and actin-binding protein, plays a vital role in the regulation of smooth muscle and nonmuscle contraction (summary by Hayashi et al., 1992).


Cloning and Expression

Humphrey et al. (1992) used a probe encoding part of avian caldesmon to screen a human aorta library and clone smooth-muscle and nonmuscle CDM-encoding cDNAs. The predicted smooth-muscle polypeptide is 793 amino acids long. As in the case of chicken CDM, nonmuscle CDM was missing the central helical domain of 256 amino acids. The nonmuscle form appeared to be generated by exon skipping. Humphrey et al. (1992) suggested that the CDMs are a small family of highly conserved proteins which are probably derived from a single gene.

Hayashi et al. (1992) stated that the high molecular weight caldesmon is predominantly expressed in smooth muscles, whereas the low molecular weight caldesmon is widely distributed in nonmuscle tissues and cells.


Gene Structure

Hayashi et al. (1992) demonstrated that the CDM gene contains 14 exons. The regulation of high molecular weight and low molecular weight caldesmon expression was thought to depend on selection of the 2 5-prime splice sites within exon 3.


Mapping

By fluorescence in situ hybridization, Hayashi et al. (1992) showed that caldesmon is encoded by a single gene located at 7q33-q34.


REFERENCES

  1. Hayashi, K., Yano, H., Hashida, T., Takeuchi, R., Takeda, O., Asada, K., Takahashi, E., Kato, I., Sobue, K. Genomic structure of the human caldesmon gene. Proc. Nat. Acad. Sci. 89: 12122-12126, 1992. [PubMed: 1465449] [Full Text: https://doi.org/10.1073/pnas.89.24.12122]

  2. Humphrey, M. B., Herrera-Sosa, H., Gonzalez, G., Lee, R., Bryan, J. Cloning of cDNAs encoding human caldesmons. Gene 112: 197-204, 1992. [PubMed: 1555769] [Full Text: https://doi.org/10.1016/0378-1119(92)90376-z]


Creation Date:
Victor A. McKusick : 6/15/1992

Edit History:
carol : 10/19/2012
terry : 6/14/1999
dkim : 6/30/1998
randy : 8/31/1996
carol : 1/12/1993
carol : 6/15/1992