KEGG   Homo sapiens (human): 476Help
Entry
476               CDS       T01001                                 

Gene name
ATP1A1, CMT2DD
Definition
(RefSeq) ATPase Na+/K+ transporting subunit alpha 1
  KO
K01539  sodium/potassium-transporting ATPase subunit alpha [EC:3.6.3.9]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
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
Network
N00304  Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
Disease
H01603  Primary aldosteronism
Drug target
Acetyldigitoxin: D06881
Acetyldigoxin: D07555
Bepridil (DG00333): D00631 D07520
Bretylium tosilate: D00645
Deslanoside: D01240
Digitoxin: D00297
Digoxin: D00298
G-strophanthin: D00112
Gitoformate: D07147
Lanatoside C: D01972
Metildigoxin (DG00191): D02587 D09847
Proscillaridin: D01379
beta-Acetyldigoxin: D07556
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    476 (ATP1A1)
   04022 cGMP-PKG signaling pathway
    476 (ATP1A1)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    476 (ATP1A1)
   04918 Thyroid hormone synthesis
    476 (ATP1A1)
   04919 Thyroid hormone signaling pathway
    476 (ATP1A1)
   04925 Aldosterone synthesis and secretion
    476 (ATP1A1)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    476 (ATP1A1)
   04261 Adrenergic signaling in cardiomyocytes
    476 (ATP1A1)
  09154 Digestive system
   04970 Salivary secretion
    476 (ATP1A1)
   04971 Gastric acid secretion
    476 (ATP1A1)
   04972 Pancreatic secretion
    476 (ATP1A1)
   04976 Bile secretion
    476 (ATP1A1)
   04973 Carbohydrate digestion and absorption
    476 (ATP1A1)
   04974 Protein digestion and absorption
    476 (ATP1A1)
   04978 Mineral absorption
    476 (ATP1A1)
  09155 Excretory system
   04960 Aldosterone-regulated sodium reabsorption
    476 (ATP1A1)
   04961 Endocrine and other factor-regulated calcium reabsorption
    476 (ATP1A1)
   04964 Proximal tubule bicarbonate reclamation
    476 (ATP1A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    476 (ATP1A1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.3  Acting on acid anhydrides to catalyse transmembrane movement of substances
    3.6.3.9  Na+/K+-exchanging ATPase
     476 (ATP1A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   476 (ATP1A1)
  Exosomal proteins of other body fluids (saliva and urine)
   476 (ATP1A1)
  Exosomal proteins of colorectal cancer cells
   476 (ATP1A1)
  Exosomal proteins of bladder cancer cells
   476 (ATP1A1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: E1-E2_ATPase Cation_ATPase_C Cation_ATPase Hydrolase Cation_ATPase_N Hydrolase_3
Motif
Other DBs
NCBI-GeneID: 476
NCBI-ProteinID: NP_000692
OMIM: 182310
HGNC: 799
Ensembl: ENSG00000163399
Vega: OTTHUMG00000012109
Pharos: P05023(Tclin)
UniProt: P05023
Position
1p13.1
AA seq 1023 aa AA seqDB search
MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLS
RGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAA
TEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSI
NAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETR
NIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKN
LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLA
LSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEI
PFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQN
AYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDA
KACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVN
DSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL
TSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPK
TDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFE
ETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKE
TYY
NT seq 3072 nt NT seq  +upstreamnt  +downstreamnt
atggggaagggggttggacgtgataagtatgagcctgcagctgtttcagaacaaggtgat
aaaaagggcaaaaagggcaaaaaagacagggacatggatgaactgaagaaagaagtttct
atggatgatcataaacttagccttgatgaacttcatcgtaaatatggaacagacttgagc
cggggattaacatctgctcgtgcagctgagatcctggcgcgagatggtcccaacgccctc
actccccctcccactactcctgaatggatcaagttttgtcggcagctctttggggggttc
tcaatgttactgtggattggagcgattctttgtttcttggcttatagcatccaagctgct
acagaagaggaacctcaaaacgataatctgtacctgggtgtggtgctatcagccgttgta
atcataactggttgcttctcctactatcaagaagctaaaagttcaaagatcatggaatcc
ttcaaaaacatggtccctcagcaagcccttgtgattcgaaatggtgagaaaatgagcata
aatgcggaggaagttgtggttggggatctggtggaagtaaaaggaggagaccgaattcct
gctgacctcagaatcatatctgcaaatggctgcaaggtggataactcctcgctcactggt
gaatcagaaccccagactaggtctccagatttcacaaatgaaaaccccctggagacgagg
aacattgccttcttttcaaccaattgtgttgaaggcaccgcacgtggtattgttgtctac
actggggatcgcactgtgatgggaagaattgccacacttgcttctgggctggaaggaggc
cagacccccattgctgcagaaattgaacattttatccacatcatcacgggtgtggctgtg
ttcctgggtgtgtctttcttcatcctttctctcatccttgagtacacctggcttgaggct
gtcatcttcctcatcggtatcatcgtagccaatgtgccggaaggtttgctggccactgtc
acggtctgtctgacacttactgccaaacgcatggcaaggaaaaactgcttagtgaagaac
ttagaagctgtggagaccttggggtccacgtccaccatctgctctgataaaactggaact
ctgactcagaaccggatgacagtggcccacatgtggtttgacaatcaaatccatgaagct
gatacgacagagaatcagagtggtgtctcttttgacaagacttcagctacctggcttgct
ctgtccagaattgcaggtctttgtaacagggcagtgtttcaggctaaccaggaaaaccta
cctattcttaagcgggcagttgcaggagatgcctctgagtcagcactcttaaagtgcata
gagctgtgctgtggttccgtgaaggagatgagagaaagatacgccaaaatcgtcgagata
cccttcaactccaccaacaagtaccagttgtctattcataagaaccccaacacatcggag
ccccaacacctgttggtgatgaagggcgccccagaaaggatcctagaccgttgcagctct
atcctcctccacggcaaggagcagcccctggatgaggagctgaaagacgcctttcagaac
gcctatttggagctggggggcctcggagaacgagtcctaggtttctgccacctctttctg
ccagatgaacagtttcctgaagggttccagtttgacactgacgatgtgaatttccctatc
gataatctgtgctttgttgggctcatctccatgattgaccctccacgggcggccgttcct
gatgccgtgggcaaatgtcgaagtgctggaattaaggtcatcatggtcacaggagaccat
ccaatcacagctaaagctattgccaaaggtgtgggcatcatctcagaaggcaatgagacc
gtggaagacattgctgcccgcctcaacatcccagtcagccaggtgaaccccagggatgcc
aaggcctgcgtagtacacggcagtgatctaaaggacatgacctccgagcagctggatgac
attttgaagtaccacactgagatagtgtttgccaggacctcccctcagcagaagctcatc
attgtggaaggctgccaaagacagggtgctatcgtggctgtgactggtgacggtgtgaat
gactctccagctttgaagaaagcagacattggggttgctatggggattgctggctcagat
gtgtccaagcaagctgctgacatgattcttctggatgacaactttgcctcaattgtgact
ggagtagaggaaggtcgtctgatctttgataacttgaagaaatccattgcttatacctta
accagtaacattcccgagatcaccccgttcctgatatttattattgcaaacattccacta
ccactggggactgtcaccatcctctgcattgacttgggcactgacatggttcctgccatc
tccctggcttatgagcaggctgagagtgacatcatgaagagacagcccagaaatcccaaa
acagacaaacttgtgaatgagcggctgatcagcatggcctatgggcagattggaatgatc
caggccctgggaggcttctttacttactttgtgattctggctgagaacggcttcctccca
attcacctgttgggcctccgagtggactgggatgaccgctggatcaacgatgtggaagac
agctacgggcagcagtggacctatgagcagaggaaaatcgtggagttcacctgccacaca
gccttcttcgtcagtatcgtggtggtgcagtgggccgacttggtcatctgtaagaccagg
aggaattcggtcttccagcaggggatgaagaacaagatcttgatatttggcctctttgaa
gagacagccctggctgctttcctttcctactgccctggaatgggtgttgctcttaggatg
tatcccctcaaacctacctggtggttctgtgccttcccctactctcttctcatcttcgta
tatgacgaagtcagaaaactcatcatcaggcgacgccctggcggctgggtggagaaggaa
acctactattag

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