We cloned and characterized the human Na,K-ATPase beta 2-subunit gene.
The gene encompasses over 8 kb at chromosome 17 in the human genome a
nd is composed of seven exons. Primer extension analysis identified a
major transcription initiation site 529 bases upstream of the translat
ion start site. The 5'-flanking region of the gene harbors a potential
TATA sequence, located 94 bases upstream of the transcription initiat
ion site and a number of potential promoter and regulatory elements, a
mong them a Sp1 site, at position -120. A functional Sp1 site has also
been found in the rat Na,K-ATPase beta 2-subunit gene (Kawakami, K.,
Watanabe, Y., Araki, M., Nagano, K., 1993). Spl binds to the adhesion
molecule on glia regulatory element that functions as a positive trans
cription regulatory element in astrocytes. (J. Neurosci. Res. 35, 138-
146). Putative AATAAA and TG sequences were found at positions 7018 an
d 7068, respectively. These signals delimit the origin of the the poly
(A) tail and mark the end of the sequence that completes the 3'-UT dow
nstream sequence of the human cDNA. An Alu repetitive sequence is loca
ted between positions 5961 and 6274. The gene is expressed as a single
mRNA species, of 3.36 kb, which is present in cerebrum, cerebellum, k
idney and heart, being more abundant in neural tissues. Structural ana
lyses of this and other of the P-type ATPase beta subunit genes reveal
that they evolved from a common ancestor. (C) 1998 Elsevier Science B
.V.