Entry - *600806 - CALPONIN 1; CNN1 - OMIM
 
* 600806

CALPONIN 1; CNN1


Alternative titles; symbols

CALPONIN, BASIC, SMOOTH MUSCLE
CALPONIN H1, MOUSE, HOMOLOG OF
SMOOTH MUSCLE-CELL CALPONIN; SMCC


HGNC Approved Gene Symbol: CNN1

Cytogenetic location: 19p13.2     Genomic coordinates (GRCh38): 19:11,538,851-11,550,323 (from NCBI)


TEXT

Cloning and Expression

Calponin is a basic 34-kD protein first isolated from chicken gizzard and bovine aorta. It is specifically expressed in smooth muscle and binds calmodulin, actin, and tropomyosin. It is able to inhibit the ATPase activity of myosin and is thought to play a role in smooth muscle contraction. Strasser et al. (1993) isolated 2 similar calponins (h1 and h2) from both mouse and pig. These are the products of separate loci. Northern blots of mouse uterus RNA indicated that h1 transcripts are about 10-fold higher than those of the h2 gene.

Maguchi et al. (1995) isolated a human cDNA encoding calponin h1 (CNN1) by screening an aorta cDNA library with a rat h1 cDNA. The 297-amino acid CNN1 contains a motif that is tandemly repeated 3 times. The N terminus of CNN1 is markedly basic and highly homologous to that of CNN3 (602374). CNN1 has a predicted pI of 9.4. Northern blot analysis of RNA from human tissues showed that CNN1 is specifically expressed in smooth muscle.


Gene Structure

Miano et al. (1997) found that the CNN1 gene contains 7 exons and spans over 11 kb. The coding region of CNN1 shares a high degree of nucleotide sequence identity with other calponin isoforms from different species. Miano et al. (1997) stated that the calponin multigene family includes CNN1, CNN2 (602373), and CNN3.


Mapping

By fluorescence in situ hybridization, Maguchi et al. (1995) mapped the CNN1 gene to chromosome 19p13.2-p13.1. Using human-rodent somatic cell hybrid and radiation hybrid mapping panels, Miano et al. (1997) refined the mapping of CNN1 to chromosome 19p13.2. Miano et al. (2001) mapped the mouse Cnn1 gene to chromosome 9, which is homologous to 19p13.2, and rat Cnn1 to 8q.


REFERENCES

  1. Maguchi, M., Nishida, W., Kohara, K., Kuwano, A., Kondo, I., Hiwada, K. Molecular cloning and gene mapping of human basic and acidic calponins. Biochem. Biophys. Res. Commun. 217: 238-244, 1995. [PubMed: 8526917, related citations] [Full Text]

  2. Miano, J. M., Krahe, R., Garcia, E., Elliott, J. M., Olson, E. N. Expression, genomic structure and high resolution mapping to 19p13.2 of the human smooth muscle cell calponin gene. Gene 197: 215-224, 1997. [PubMed: 9332369, related citations] [Full Text]

  3. Miano, J. M., Thomas, S., Disteche, C. M. Expression and chromosomal mapping of the mouse smooth muscle calponin gene. Mammalian Genome 12: 187-191, 2001. [PubMed: 11252166, related citations] [Full Text]

  4. Strasser, P., Gimona, M., Moessler, H., Herzog, M., Small, J. V. Mammalian calponin: identification and expression of genetic variants. FEBS Lett. 330: 13-18, 1993. [PubMed: 8370452, related citations] [Full Text]


Victor A. McKusick - updated : 6/4/2001
Patti M. Sherman - updated : 2/24/1998
Creation Date:
Alan F. Scott : 9/29/1995
wwang : 12/09/2010
mcapotos : 6/6/2001
terry : 6/4/2001
carol : 3/24/1999
alopez : 3/12/1999
alopez : 2/26/1998
dholmes : 2/24/1998
dholmes : 2/24/1998
dholmes : 2/20/1998
dholmes : 2/20/1998
mark : 6/26/1996
mark : 4/7/1996
mark : 9/29/1995

* 600806

CALPONIN 1; CNN1


Alternative titles; symbols

CALPONIN, BASIC, SMOOTH MUSCLE
CALPONIN H1, MOUSE, HOMOLOG OF
SMOOTH MUSCLE-CELL CALPONIN; SMCC


HGNC Approved Gene Symbol: CNN1

Cytogenetic location: 19p13.2     Genomic coordinates (GRCh38): 19:11,538,851-11,550,323 (from NCBI)


TEXT

Cloning and Expression

Calponin is a basic 34-kD protein first isolated from chicken gizzard and bovine aorta. It is specifically expressed in smooth muscle and binds calmodulin, actin, and tropomyosin. It is able to inhibit the ATPase activity of myosin and is thought to play a role in smooth muscle contraction. Strasser et al. (1993) isolated 2 similar calponins (h1 and h2) from both mouse and pig. These are the products of separate loci. Northern blots of mouse uterus RNA indicated that h1 transcripts are about 10-fold higher than those of the h2 gene.

Maguchi et al. (1995) isolated a human cDNA encoding calponin h1 (CNN1) by screening an aorta cDNA library with a rat h1 cDNA. The 297-amino acid CNN1 contains a motif that is tandemly repeated 3 times. The N terminus of CNN1 is markedly basic and highly homologous to that of CNN3 (602374). CNN1 has a predicted pI of 9.4. Northern blot analysis of RNA from human tissues showed that CNN1 is specifically expressed in smooth muscle.


Gene Structure

Miano et al. (1997) found that the CNN1 gene contains 7 exons and spans over 11 kb. The coding region of CNN1 shares a high degree of nucleotide sequence identity with other calponin isoforms from different species. Miano et al. (1997) stated that the calponin multigene family includes CNN1, CNN2 (602373), and CNN3.


Mapping

By fluorescence in situ hybridization, Maguchi et al. (1995) mapped the CNN1 gene to chromosome 19p13.2-p13.1. Using human-rodent somatic cell hybrid and radiation hybrid mapping panels, Miano et al. (1997) refined the mapping of CNN1 to chromosome 19p13.2. Miano et al. (2001) mapped the mouse Cnn1 gene to chromosome 9, which is homologous to 19p13.2, and rat Cnn1 to 8q.


REFERENCES

  1. Maguchi, M., Nishida, W., Kohara, K., Kuwano, A., Kondo, I., Hiwada, K. Molecular cloning and gene mapping of human basic and acidic calponins. Biochem. Biophys. Res. Commun. 217: 238-244, 1995. [PubMed: 8526917] [Full Text: https://doi.org/10.1006/bbrc.1995.2769]

  2. Miano, J. M., Krahe, R., Garcia, E., Elliott, J. M., Olson, E. N. Expression, genomic structure and high resolution mapping to 19p13.2 of the human smooth muscle cell calponin gene. Gene 197: 215-224, 1997. [PubMed: 9332369] [Full Text: https://doi.org/10.1016/s0378-1119(97)00265-5]

  3. Miano, J. M., Thomas, S., Disteche, C. M. Expression and chromosomal mapping of the mouse smooth muscle calponin gene. Mammalian Genome 12: 187-191, 2001. [PubMed: 11252166] [Full Text: https://doi.org/10.1007/s003350010266]

  4. Strasser, P., Gimona, M., Moessler, H., Herzog, M., Small, J. V. Mammalian calponin: identification and expression of genetic variants. FEBS Lett. 330: 13-18, 1993. [PubMed: 8370452] [Full Text: https://doi.org/10.1016/0014-5793(93)80909-e]


Contributors:
Victor A. McKusick - updated : 6/4/2001
Patti M. Sherman - updated : 2/24/1998

Creation Date:
Alan F. Scott : 9/29/1995

Edit History:
wwang : 12/09/2010
mcapotos : 6/6/2001
terry : 6/4/2001
carol : 3/24/1999
alopez : 3/12/1999
alopez : 2/26/1998
dholmes : 2/24/1998
dholmes : 2/24/1998
dholmes : 2/20/1998
dholmes : 2/20/1998
mark : 6/26/1996
mark : 4/7/1996
mark : 9/29/1995