KEGG   Homo sapiens (human): 478
Entry
478               CDS       T01001                                 
Symbol
ATP1A3, AHC2, ATP1A1, CAPOS, DEE99, DYT12, RDP
Name
(RefSeq) ATPase Na+/K+ transporting subunit alpha 3
  KO
K01539  sodium/potassium-transporting ATPase subunit alpha [EC:7.2.2.13]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04820  Cytoskeleton in muscle cells
hsa04911  Insulin secretion
hsa04918  Thyroid hormone synthesis
hsa04919  Thyroid hormone signaling pathway
hsa04925  Aldosterone synthesis and secretion
hsa04960  Aldosterone-regulated sodium reabsorption
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04964  Proximal tubule bicarbonate reclamation
hsa04970  Salivary secretion
hsa04971  Gastric acid secretion
hsa04972  Pancreatic secretion
hsa04973  Carbohydrate digestion and absorption
hsa04974  Protein digestion and absorption
hsa04976  Bile secretion
hsa04978  Mineral absorption
Disease
H00606  Early infantile epileptic encephalopathy
H00831  Primary dystonia
H00998  Alternating hemiplegia of childhood
H02272  CAPOS syndrome
Drug target
Acetyldigitoxin: D06881
Acetyldigoxin: D07555
Bepridil (DG00333): D00631<JP> D07520
Bretylium tosilate: D00645
Deslanoside: D01240<JP>
Digitoxin: D00297
Digoxin: D00298<JP/US>
G-strophanthin: D00112
Gitoformate: D07147
Lanatoside C: D01972
Metildigoxin (DG00191): D02587<JP> D09847
Proscillaridin: D01379
beta-Acetyldigoxin: D07556
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    478 (ATP1A3)
   04022 cGMP-PKG signaling pathway
    478 (ATP1A3)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    478 (ATP1A3)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    478 (ATP1A3)
   04918 Thyroid hormone synthesis
    478 (ATP1A3)
   04919 Thyroid hormone signaling pathway
    478 (ATP1A3)
   04925 Aldosterone synthesis and secretion
    478 (ATP1A3)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    478 (ATP1A3)
   04261 Adrenergic signaling in cardiomyocytes
    478 (ATP1A3)
  09154 Digestive system
   04970 Salivary secretion
    478 (ATP1A3)
   04971 Gastric acid secretion
    478 (ATP1A3)
   04972 Pancreatic secretion
    478 (ATP1A3)
   04976 Bile secretion
    478 (ATP1A3)
   04973 Carbohydrate digestion and absorption
    478 (ATP1A3)
   04974 Protein digestion and absorption
    478 (ATP1A3)
   04978 Mineral absorption
    478 (ATP1A3)
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    478 (ATP1A3)
   04961 Endocrine and other factor-regulated calcium reabsorption
    478 (ATP1A3)
   04964 Proximal tubule bicarbonate reclamation
    478 (ATP1A3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    478 (ATP1A3)
Enzymes [BR:hsa01000]
 7. Translocases
  7.2  Catalysing the translocation of inorganic cations
   7.2.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.2.2.13  Na+/K+-exchanging ATPase
     478 (ATP1A3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   478 (ATP1A3)
  Exosomal proteins of other body fluids (saliva and urine)
   478 (ATP1A3)
  Exosomal proteins of colorectal cancer cells
   478 (ATP1A3)
  Exosomal proteins of bladder cancer cells
   478 (ATP1A3)
SSDB
Motif
Pfam: E1-E2_ATPase Cation_ATPase_C Cation_ATPase Cation_ATPase_N Hydrolase Hydrolase_3 HAD
Other DBs
NCBI-GeneID: 478
NCBI-ProteinID: NP_689509
OMIM: 182350
HGNC: 801
Ensembl: ENSG00000105409
UniProt: P13637 Q53ES0
Structure
LinkDB
Position
19:complement(41966582..41994230)
AA seq 1013 aa
MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE
ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL
YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL
VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV
EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST
STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL
SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE
RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL
KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI
GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF
LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI
SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY
CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY
NT seq 3042 nt   +upstreamnt  +downstreamnt
atgggggacaagaaagatgacaaggactcacccaagaagaacaagggcaaggagcgccgg
gacctggatgacctcaagaaggaggtggctatgacagagcacaagatgtcagtggaagag
gtctgccggaaatacaacacagactgtgtgcagggtttgacccacagcaaagcccaggag
atcctggcccgggatgggcctaacgcactcacgccaccgcctaccaccccagagtgggtc
aagttttgccggcagctcttcgggggcttctccatcctgctgtggatcggggctatcctc
tgcttcctggcctacggtatccaggcgggcaccgaggacgacccctctggtgacaacctg
tacctgggcatcgtgctggcggccgtggtgatcatcactggctgcttctcctactaccag
gaggccaagagctccaagatcatggagtccttcaagaacatggtgccccagcaagccctg
gtgatccgggaaggtgagaagatgcaggtgaacgctgaggaggtggtggtcggggacctg
gtggagatcaagggtggagaccgagtgccagctgacctgcggatcatctcagcccacggc
tgcaaggtggacaactcctccctgactggcgaatccgagccccagactcgctctcccgac
tgcactcacgacaaccccttggagactcggaacatcaccttcttttccaccaactgtgtg
gaaggcacggctcggggcgtggtggtggccacgggcgaccgcactgtcatgggccgtatc
gccaccctggcatcagggctggaggtgggcaagacgcccatcgccatcgagattgagcac
ttcatccagctcatcaccggcgtggctgtcttcctgggtgtctccttcttcatcctctcc
ctcattctcggatacacctggcttgaggctgtcatcttcctcatcggcatcatcgtggcc
aatgtcccagagggtctgctggccactgtcactgtgtgtctgacgctgaccgccaagcgc
atggcccggaagaactgcctggtgaagaacctggaggctgtagaaaccctgggctccacg
tccaccatctgctcagataagacagggaccctcactcagaaccgcatgacagtcgcccac
atgtggtttgacaaccagatccacgaggctgacaccactgaggaccagtcagggacctca
tttgacaagagttcgcacacctgggtggccctgtctcacatcgctgggctctgcaatcgc
gctgtcttcaagggtggtcaggacaacatccctgtgctcaagagggatgtggctggggat
gcgtctgagtctgccctgctcaagtgcatcgagctgtcctctggctccgtgaagctgatg
cgtgaacgcaacaagaaagtggctgagattcccttcaattccaccaacaaataccagctc
tccatccatgagaccgaggaccccaacgacaaccgatacctgctggtgatgaagggtgcc
cccgagcgcatcctggaccgctgctccaccatcctgctacagggcaaggagcagcctctg
gacgaggaaatgaaggaggccttccagaatgcctaccttgagctcggtggcctgggcgag
cgcgtgcttggtttctgccattattacctgcccgaggagcagttccccaagggctttgcc
ttcgactgtgatgacgtgaacttcaccacggacaacctctgctttgtgggcctcatgtcc
atgatcgacccaccccgggcagccgtccctgacgcggtgggcaagtgtcgcagcgcaggc
atcaaggtcatcatggtcaccggcgatcaccccatcacggccaaggccattgccaagggt
gtgggcatcatctctgagggcaacgagactgtggaggacatcgccgcccggctcaacatt
cccgtcagccaggttaacccccgggatgccaaggcctgcgtgatccacggcaccgacctc
aaggacttcacctccgagcaaatcgacgagatcctgcagaatcacaccgagatcgtcttc
gcccgcacatccccccagcagaagctcatcattgtggagggctgtcagagacagggtgca
attgtggctgtgaccggggatggtgtgaacgactcccccgctctgaagaaggccgacatt
ggggtggccatgggcatcgctggctctgacgtctccaagcaggcagctgacatgatcctg
ctggacgacaactttgcctccatcgtcacaggggtggaggagggccgcctgatcttcgac
aacctaaagaagtccattgcctacaccctgaccagcaatatcccggagatcacgcccttc
ctgctgttcatcatggccaacatcccgctgcccctgggcaccatcaccatcctctgcatc
gatctgggcactgacatggtccctgccatctcactggcgtacgaggctgccgaaagcgac
atcatgaagagacagcccaggaacccgcggacggacaaattggtcaatgagagactcatc
agcatggcctacgggcagattggaatgatccaggctctcggtggcttcttctcttacttt
gtgatcctggcagaaaatggcttcttgcccggcaacctggtgggcatccggctgaactgg
gatgaccgcaccgtcaatgacctggaagacagttacgggcagcagtggacatacgagcag
aggaaggtggtggagttcacctgccacacggccttctttgtgagcatcgttgtcgtccag
tgggccgatctgatcatctgcaagacccggaggaactcggtcttccagcagggcatgaag
aacaagatcctgatcttcgggctgtttgaggagacggccctggctgccttcctgtcctac
tgccccggcatggacgtggccctgcgcatgtaccctctcaagcccagctggtggttctgt
gccttcccctacagtttcctcatcttcgtctacgacgaaatccgcaaactcatcctgcgc
aggaacccagggggttgggtggagaaggaaacctactactga

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