AT1A2_HUMAN
Source:
hRBCD
; ID:
IPI00003021
PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
ATP1A2
, KIAA0778
Protein names and data:
AT1A2_HUMAN
, Sodium/potassium-transporting ATPase subunit alpha-2; Na(+)/K(+) ATPase alpha-2 subunit; 3.6.3.9
, Sodium pump subunit alpha-2; Flags: Precursor
Lenght: 1020 a.a.
Mass: 112265 Da
fasta formatted sequence
Function:
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.
Catalytic activity:
ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
Disease:
( OMIM:
104290
182340
602481
)
Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. Note=The disease is caused by mutations affecting the gene represented in this entry. Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Genetic variants
378 - 378
T -> N (in AHC1; dbSNP:rs28934002). VAR_019934
28934002
689 - 689
R -> Q (in FHM2; dbSNP:rs28933401). VAR_019935
28933401
715 - 715
G -> R (in FHM2; de novo mutation in a sporadic case). VAR_065685
731 - 731
M -> T (in FHM2; dbSNP:rs28933400). VAR_019936
28933400
764 - 764
L -> P (in FHM2; loss of function; dbSNP:rs28933398). VAR_019937
28933398
874 - 874
G -> S (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). VAR_069991
887 - 887
W -> R (in FHM2; loss of function; dbSNP:rs28933399). VAR_019938
28933399
1007 - 1007
R -> W (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). VAR_069992
Database cross-references
UniProt:
P50993
Ensembl:
ENST00000361216
MIM:
104290
MIM:
182340
MIM:
602481
neXtProt:
NX_P50993
Antibodypedia:
P50993
(may not find the protein thus also not any antibody)
Local full text data:
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