Entry - *600385 - ADENYLATE CYCLASE 7; ADCY7 - OMIM
 
* 600385

ADENYLATE CYCLASE 7; ADCY7


Alternative titles; symbols

ADENYLYL CYCLASE 7


HGNC Approved Gene Symbol: ADCY7

Cytogenetic location: 16q12.1     Genomic coordinates (GRCh38): 16:50,244,699-50,318,135 (from NCBI)


TEXT

Description

ADCY7 belongs to the adenylate cyclase (EC 4.6.1.1) family of enzymes responsible for the synthesis of cAMP (Ludwig and Seuwen, 2002).


Cloning and Expression

Hellevuo et al. (1993) identified adenylate cyclase-7 (ADCY7) in the human erythroleukemia cell line HEL. The deduced protein contains 12 membrane-spanning domains, a characteristic of the adenylyl cyclase enzyme family. RNase protection assays indicated that ADCY7 is the major form of adenylyl cyclase in human platelets. Northern blot analysis detected a 6.7-kb transcript that was abundant in liver. Of brain areas studied, the transcript was most abundant in the caudate and cerebellum and present at a slightly lower level in hippocampus.

By semiquantitative RT-PCR, Ludwig and Seuwen (2002) found high expression of ADCY7 in peripheral blood leukocytes, spleen, thymus, lung, and heart, moderate expression in several other tissues, including placenta, ovary, and colon, and little to no expression in brain, kidney, liver, and skeletal muscle.


Gene Structure

Ludwig and Seuwen (2002) determined that the ADCY7 gene contains 26 exons and spans over 38.6 kb.


Mapping

Hellevuo et al. (1995) used PCR techniques in the study of human/rodent somatic hybrid panels and a YAC library to demonstrate that the ADCY7 gene is located on chromosome 16q12-q13. Hellevuo et al. (1995) noted that this region of the genome is known to contain other genes encoding proteins characterized by 12 membrane-spanning domains: norepinephrine transporter protein-1 (NET1; 163970), located at 16q12.2, and renal sodium-glucose transporter-2 (SGLT2; 182381), located at 16p11.2.


REFERENCES

  1. Hellevuo, K., Berry, R., Sikela, J. M., Tabakoff, B. Localization of the gene for a novel human adenylyl cyclase (ADCY7) to chromosome 16. Hum. Genet. 95: 197-200, 1995. [PubMed: 7860067, related citations] [Full Text]

  2. Hellevuo, K., Yoshimura, M., Kao, M., Hoffman, P. L., Cooper, D. M. F., Tabakoff, B. A novel adenylyl cyclase sequence cloned from the human erythroleukemia cell line. Biochem. Biophys. Res. Commun. 192: 311-318, 1993. [PubMed: 8476432, related citations] [Full Text]

  3. Ludwig, M.-G., Seuwen, K. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. J. Recept. Signal Transduct. Res. 22: 79-110, 2002. [PubMed: 12503609, related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 10/11/2006
Creation Date:
Victor A. McKusick : 2/9/1995
carol : 10/12/2006
carol : 10/11/2006
terry : 10/11/2006
carol : 8/14/2006
terry : 8/14/2006
terry : 8/11/2006
carol : 2/9/1995

* 600385

ADENYLATE CYCLASE 7; ADCY7


Alternative titles; symbols

ADENYLYL CYCLASE 7


HGNC Approved Gene Symbol: ADCY7

Cytogenetic location: 16q12.1     Genomic coordinates (GRCh38): 16:50,244,699-50,318,135 (from NCBI)


TEXT

Description

ADCY7 belongs to the adenylate cyclase (EC 4.6.1.1) family of enzymes responsible for the synthesis of cAMP (Ludwig and Seuwen, 2002).


Cloning and Expression

Hellevuo et al. (1993) identified adenylate cyclase-7 (ADCY7) in the human erythroleukemia cell line HEL. The deduced protein contains 12 membrane-spanning domains, a characteristic of the adenylyl cyclase enzyme family. RNase protection assays indicated that ADCY7 is the major form of adenylyl cyclase in human platelets. Northern blot analysis detected a 6.7-kb transcript that was abundant in liver. Of brain areas studied, the transcript was most abundant in the caudate and cerebellum and present at a slightly lower level in hippocampus.

By semiquantitative RT-PCR, Ludwig and Seuwen (2002) found high expression of ADCY7 in peripheral blood leukocytes, spleen, thymus, lung, and heart, moderate expression in several other tissues, including placenta, ovary, and colon, and little to no expression in brain, kidney, liver, and skeletal muscle.


Gene Structure

Ludwig and Seuwen (2002) determined that the ADCY7 gene contains 26 exons and spans over 38.6 kb.


Mapping

Hellevuo et al. (1995) used PCR techniques in the study of human/rodent somatic hybrid panels and a YAC library to demonstrate that the ADCY7 gene is located on chromosome 16q12-q13. Hellevuo et al. (1995) noted that this region of the genome is known to contain other genes encoding proteins characterized by 12 membrane-spanning domains: norepinephrine transporter protein-1 (NET1; 163970), located at 16q12.2, and renal sodium-glucose transporter-2 (SGLT2; 182381), located at 16p11.2.


REFERENCES

  1. Hellevuo, K., Berry, R., Sikela, J. M., Tabakoff, B. Localization of the gene for a novel human adenylyl cyclase (ADCY7) to chromosome 16. Hum. Genet. 95: 197-200, 1995. [PubMed: 7860067] [Full Text: https://doi.org/10.1007/BF00209401]

  2. Hellevuo, K., Yoshimura, M., Kao, M., Hoffman, P. L., Cooper, D. M. F., Tabakoff, B. A novel adenylyl cyclase sequence cloned from the human erythroleukemia cell line. Biochem. Biophys. Res. Commun. 192: 311-318, 1993. [PubMed: 8476432] [Full Text: https://doi.org/10.1006/bbrc.1993.1415]

  3. Ludwig, M.-G., Seuwen, K. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. J. Recept. Signal Transduct. Res. 22: 79-110, 2002. [PubMed: 12503609] [Full Text: https://doi.org/10.1081/rrs-120014589]


Contributors:
Patricia A. Hartz - updated : 10/11/2006

Creation Date:
Victor A. McKusick : 2/9/1995

Edit History:
carol : 10/12/2006
carol : 10/11/2006
terry : 10/11/2006
carol : 8/14/2006
terry : 8/14/2006
terry : 8/11/2006
carol : 2/9/1995