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