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ATP1A4  -  ATPase, Na+/K+ transporting, alpha 4...

Homo sapiens

Synonyms: ATP1A1, ATP1AL2, Na(+)/K(+) ATPase alpha-4 subunit, Sodium pump subunit alpha-4, Sodium/potassium-transporting ATPase subunit alpha-4
 
 
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High impact information on ATP1A4

  • ATP1AL2 cDNAs spanning the coding sequence of a novel P-type ATPase alpha subunit were isolated from a rat testis library [1].
  • The predicted polypeptide is 1028 amino acids long and exhibits 76-78% identity with the rat Na+,K(+)-ATPase alpha 1, alpha 2 and alpha 3 isoforms, indicating that ATP1AL2 may encode a fourth Na+,K(+)-ATPase alpha isoform [1].
  • Mutation analysis among eight affected individuals from a single large, highly penetrant FHM family was negative in ATP1A4 and ATP1A2 although multiple polymorphisms were identified [2].
  • Expression analysis of the ATP1A4 gene revealed a new major approximately 7.5 kb transcript in human skeletal muscle, with expression also shown in mouse muscle [2].
  • Accordingly, dibutyryl cAMP (db-cAMP) and ectopic expression of CREMtau, a testis specific splice variant of CREM were able to activate the ATP1A4 promoter driven expression of luciferase in HEK 293 T, JEG-3 and GC-1 cells [3].
 

Biological context of ATP1A4

  • Further characterization of the effect of db-cAMP and CREMtau on deleted constructs of the ATP1A4 promoter (-339/+80, and +25/+480), and on the -339/+480 region carrying mutations in the CRE sites showed that db-cAMP and CREMtau effect required the CRE motif located 263 bp upstream the transcription initiation site [3].
  • These results constitute the first demonstration of the transcriptional control of ATP1A4 gene expression by cAMP and by CREMtau, a transcription factor essential for male germ cell gene expression [3].

References

  1. A putative fourth Na+,K(+)-ATPase alpha-subunit gene is expressed in testis. Shamraj, O.I., Lingrel, J.B. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  2. Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4. Keryanov, S., Gardner, K.L. Gene (2002) [Pubmed]
  3. The transcription factor CREMtau and cAMP regulate promoter activity of the Na,K-ATPase alpha4 isoform. Rodova, M., Nguyen, A.N., Blanco, G. Mol. Reprod. Dev. (2006) [Pubmed]
 
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