Gene: [01q2/ATP1B1] ATPase, Na+,K+ transporting, beta 1 polypeptide;


FUN

Systematic name: ATP phosphohydrolase (Na+/K+ -transporting). Reaction catalyzed: ATP + H(2)O = ADP + orthophosphate."

POL

HindIII(AAGCTT) RFLP/A: a constant fragment, 7.6 kb in length, and two alleles: (1) 11.2 kb, with the frequency (1-p)=0.75 and (2) 7.4 kb, with the frequency p=0.25; HindIII RFLP/B: a constant fragment, 4.5 kb in length, and two alleles: (1) 4.8 kb, with the frequency 0.58 and (2) 3.7 kb, with the frequency 0.42; MspI(CCGG) RFLP is characterized by a triplet of constant fragments, 5.9 kb, and a dublet, 0.9/0.8 kb. There are also RFLP/A: two alleles, 'presence' (the frequency 0.47)/ 'absence' of the pair of fragments 4.6/1.3 kb; and RFLP/B: two alleles, (1) 4.3 kb (the frequency 0.17) and (2) 3.5 kb (the frequency 0.83)."

FAG

See GEM:01p13/ATP1A1.

REF

EXP,EVO "Emanuel &: PNAS, 84, N24, 9030-9034, 1987
PRO,SEQ "Kawakami K &: NAR, 14, N7, 2833-2844, 1986
PRO,LOC,REL "Kent RB &: PNAS, 84, 5369-5373, 1987a
EAG "Kent RB &: PNAS, 84, N15, 5369-5373, 1987b
PRO,LOC,REL "Lane LK &: Genomics, 5, 445-453, 1989
POL,MOL "Masharani U, Frossard PM: Hum Genet, 80, N3, 308, 1988
SEQ,REL "Ruiz A &: Gene, 155, 179-184, 1995
EXP,EVO "Schneider &: Blood Cells, 13, 299-307, 1987
PRO,LOC,REL "Seldin MF &: CCG, 51, 1077, 1989
PRO,POL "Shull MM &: NAR, 18, 1087, 1990
LOC "Sverdlov ED &: FEBS Lett, 221, 129-133, 1987
LOC "Yang-Feng TL &: Genomics, 2, 128-138, 1988

KEY

mem, neu, ion

CLA

coding, basic

LOC

01 q22-25

MIM

MIM: 182330

EZN

ENZYME: 3.6.1.37

Смотрите также:

  • Gene: [17^/ATP1B2] ATPase, Na+,K+ transporting, beta 2 polypeptide;