Gene: [01q2/ATP1B1] ATPase, Na+,K+ transporting, beta 1 polypeptide;
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FUN |
Systematic name: ATP phosphohydrolase (Na+/K+ -transporting). Reaction catalyzed: ATP + H(2)O = ADP + orthophosphate." |
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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)." |
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FAG |
See GEM:01p13/ATP1A1. |
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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 |
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KEY |
mem, neu, ion |
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CLA |
coding, basic |
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LOC |
01 q22-25 |
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MIM |
MIM: 182330 |
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EZN |
ENZYME: 3.6.1.37 |
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