Entry - *137217 - ATPase, H+,K+ EXCHANGING, BETA POLYPEPTIDE; ATP4B - OMIM
 
* 137217

ATPase, H+,K+ EXCHANGING, BETA POLYPEPTIDE; ATP4B


Alternative titles; symbols

GASTRIC HYDROGEN-POTASSIUM ATPase, BETA


HGNC Approved Gene Symbol: ATP4B

Cytogenetic location: 13q34     Genomic coordinates (GRCh38): 13:113,648,804-113,658,198 (from NCBI)


TEXT

Cloning and Expression

Hydrogen-potassium adenosine triphosphatase (H(+),K(+)-ATPase; EC 3.6.1.36) belongs to a family of P-type cation-transporting ATPases that also includes Ca(2+)-ATPase (108740) and Na(+),K(+)-ATPase (182310). In gastric parietal cells, H(+),K(+)-ATPase plays an essential role in the formation of hydrochloric acid. Like the Na(+),K(+)-ATPase, H(+),K(+)-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit (ATP4A; 137216) and a smaller but heavily glycosylated beta subunit. Reuben et al. (1990) characterized the beta subunit of the gastric hydrogen-potassium ATPase of the rabbit. Homology with the sodium/potassium-ATPase subclass was demonstrated. The beta subunit of hydrogen-potassium ATPase is a major antigen recognized by sera from pernicious anemia and atrophic gastritis patients (Toh et al., 1990).

Canfield et al. (1990) isolated cDNA clones encoding the bovine and rat gastric H(+),K(+)-ATPase beta subunit. Northern and Western blot analysis showed that the gene is expressed exclusively in the stomach. Structural similarities suggested that genes for the beta subunits of H(+),K(+)-ATPase and Na(+),K(+)-ATPase evolved from a common ancestral gene. The cDNA is 1.4 kb long.


Gene Structure

Canfield et al. (1990) determined that, in contrast to the 22-exon gene encoding the alpha subunit (ATP4A), the beta subunit of H(+),K(+)-ATPase is encoded by a gene, ATP4B, comprising 7 exons.


Mapping

By fluorescence in situ hybridization, Song et al. (1992) mapped the human ATP4B gene to chromosome 13q34.

By analyzing the segregation of RFLPs among recombinant inbred strains of mice, Canfield et al. (1990) mapped the gene to mouse chromosome 8.


REFERENCES

  1. Canfield, V. A., Okamoto, C. T., Chow, D., Dorfman, J., Gros, P., Forte, J. G., Levenson, R. Cloning of the H,K-ATPase beta subunit: tissue-specific expression, chromosomal assignment, and relationship to Na,K-ATPase beta subunits. J. Biol. Chem. 265: 19878-19884, 1990. [PubMed: 1978834, related citations]

  2. Reuben, M. A., Lasater, L. S., Sachs, G. Characterization of a beta subunit of the gastric H(+)/K(+)-transporting ATPase. Proc. Nat. Acad. Sci. 87: 6767-6771, 1990. [PubMed: 2168558, related citations] [Full Text]

  3. Song, I., Brown, D. R., Yamada, T., Trent, J. M. Mapping of the gene encoding the beta-subunit of H(+), K(+)-ATPase to human chromosome 13q34 by fluorescence in situ hybridization. Genomics 14: 1114-1115, 1992. [PubMed: 1335958, related citations] [Full Text]

  4. Toh, B.-H., Gleeson, P. A., Simpson, R. J., Moritz, R. L., Callaghan, J. M., Goldkorn, I., Jones, C. M., Martinelli, T. M., Mu, F.-T., Humphris, D. C., Pettitt, J. M., Mori, Y., Masuda, T., Sobieszczuk, P., Weinstock, J., Mantamadiotis, T., Baldwin, G. S. The 60- to 90-kDa parietal cell autoantigen associated with autoimmune gastritis is a beta subunit of the gastric H(+)/K(+)-ATPase (proton pump). Proc. Nat. Acad. Sci. 87: 6418-6422, 1990. [PubMed: 1974721, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 1/8/1993
alopez : 02/19/2014
carol : 8/20/1998
terry : 8/19/1998
alopez : 6/4/1997
carol : 4/2/1993
carol : 1/19/1993
carol : 1/8/1993

* 137217

ATPase, H+,K+ EXCHANGING, BETA POLYPEPTIDE; ATP4B


Alternative titles; symbols

GASTRIC HYDROGEN-POTASSIUM ATPase, BETA


HGNC Approved Gene Symbol: ATP4B

Cytogenetic location: 13q34     Genomic coordinates (GRCh38): 13:113,648,804-113,658,198 (from NCBI)


TEXT

Cloning and Expression

Hydrogen-potassium adenosine triphosphatase (H(+),K(+)-ATPase; EC 3.6.1.36) belongs to a family of P-type cation-transporting ATPases that also includes Ca(2+)-ATPase (108740) and Na(+),K(+)-ATPase (182310). In gastric parietal cells, H(+),K(+)-ATPase plays an essential role in the formation of hydrochloric acid. Like the Na(+),K(+)-ATPase, H(+),K(+)-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit (ATP4A; 137216) and a smaller but heavily glycosylated beta subunit. Reuben et al. (1990) characterized the beta subunit of the gastric hydrogen-potassium ATPase of the rabbit. Homology with the sodium/potassium-ATPase subclass was demonstrated. The beta subunit of hydrogen-potassium ATPase is a major antigen recognized by sera from pernicious anemia and atrophic gastritis patients (Toh et al., 1990).

Canfield et al. (1990) isolated cDNA clones encoding the bovine and rat gastric H(+),K(+)-ATPase beta subunit. Northern and Western blot analysis showed that the gene is expressed exclusively in the stomach. Structural similarities suggested that genes for the beta subunits of H(+),K(+)-ATPase and Na(+),K(+)-ATPase evolved from a common ancestral gene. The cDNA is 1.4 kb long.


Gene Structure

Canfield et al. (1990) determined that, in contrast to the 22-exon gene encoding the alpha subunit (ATP4A), the beta subunit of H(+),K(+)-ATPase is encoded by a gene, ATP4B, comprising 7 exons.


Mapping

By fluorescence in situ hybridization, Song et al. (1992) mapped the human ATP4B gene to chromosome 13q34.

By analyzing the segregation of RFLPs among recombinant inbred strains of mice, Canfield et al. (1990) mapped the gene to mouse chromosome 8.


REFERENCES

  1. Canfield, V. A., Okamoto, C. T., Chow, D., Dorfman, J., Gros, P., Forte, J. G., Levenson, R. Cloning of the H,K-ATPase beta subunit: tissue-specific expression, chromosomal assignment, and relationship to Na,K-ATPase beta subunits. J. Biol. Chem. 265: 19878-19884, 1990. [PubMed: 1978834]

  2. Reuben, M. A., Lasater, L. S., Sachs, G. Characterization of a beta subunit of the gastric H(+)/K(+)-transporting ATPase. Proc. Nat. Acad. Sci. 87: 6767-6771, 1990. [PubMed: 2168558] [Full Text: https://doi.org/10.1073/pnas.87.17.6767]

  3. Song, I., Brown, D. R., Yamada, T., Trent, J. M. Mapping of the gene encoding the beta-subunit of H(+), K(+)-ATPase to human chromosome 13q34 by fluorescence in situ hybridization. Genomics 14: 1114-1115, 1992. [PubMed: 1335958] [Full Text: https://doi.org/10.1016/s0888-7543(05)80142-9]

  4. Toh, B.-H., Gleeson, P. A., Simpson, R. J., Moritz, R. L., Callaghan, J. M., Goldkorn, I., Jones, C. M., Martinelli, T. M., Mu, F.-T., Humphris, D. C., Pettitt, J. M., Mori, Y., Masuda, T., Sobieszczuk, P., Weinstock, J., Mantamadiotis, T., Baldwin, G. S. The 60- to 90-kDa parietal cell autoantigen associated with autoimmune gastritis is a beta subunit of the gastric H(+)/K(+)-ATPase (proton pump). Proc. Nat. Acad. Sci. 87: 6418-6422, 1990. [PubMed: 1974721] [Full Text: https://doi.org/10.1073/pnas.87.16.6418]


Creation Date:
Victor A. McKusick : 1/8/1993

Edit History:
alopez : 02/19/2014
carol : 8/20/1998
terry : 8/19/1998
alopez : 6/4/1997
carol : 4/2/1993
carol : 1/19/1993
carol : 1/8/1993