Gene: [01p13/ATP1A1] ATPase, Na+,K+ transporting, alpha 1 polypeptide;
FUN | Systematic name: ATP phosphohydrolase (Na+/K+ -transporting). The reaction catalyzed: ATP + H(2)O = ADP + orthophosphate." |
HET | In the MIM catalogue,
the recessive marker |
FAG | [1] The
genes coding for Na,K-ATPase alpha subunits are mapped to chrs 1 and 19:
GEM:01p13/ATP1A1; GEM:01q2/ATP1A2; GEM:19q132/ATP1A3. Two ATP1A-like sequences are
localized on chrs 13 and 1: GEM:13q1/ATP1AL1; GEM:01q2/ATP1AL2. [2] The genes coding for Na,K-ATPase beta subunits and the ATP1B-like sequence are mapped to chrs 1, 17, and 4: GEM:01q2/ATP1B1; GEM:17^/ATP1B2; GEM:04^/ATP1BL1." |
REF | HET "Beutler &: New
Engl J Med, 309, 756-760, 1983 REV,STR,MOL,FAG,EVO "Broude &: Biol Membr(USSR), 6, N8, 789-800, 1989 PRO,LOC,MOL,POL,EXP "Chehab FF &: PNAS, 84, N22, 7901-7905, 1987 HET "De Luise, Flier: Metabolism, 34, 771-776, 1985 HET "Hasstedt &: Am J Med Genet, 34, 332-337, 1989 PRO,SEQ,EXP,MOP "Kawakami K &: J Biochem, 100, 389-397, 1986 PRO,SEQ,POL,FAG "Ovchinnikov YuA &: FEBS Lett, 213, N1, 73-80, 1987 PRO,SEQ,POL,FAG "Shull MM, Lingrel JB: PNAS, 84, N12, 4039-4043, 1987 PRO,SEQ,POL,FAG "Sverdlov ED &: FEBS Lett, 221, 129-133, 1987 PRO,LOC,MOL,POL,EXP "Yang-Feng TL &: Genomics, 2, 128-138, 1988 |
SWI | SWISSPROT: P05023 |
KEY | mem, neu, ion |
CLA | coding, basic |
LOC | 01 p13 |
MIM | MIM: 182310 |
EZN | ENZYME: 3.6.1.37 |
