QuickView for DYT12 (gene)

Gene Symbol:

ATP1A3 Homo sapiens

Full name:

ATPase Na+/K+ transporting subunit alpha 3

Synonyms:

AHC2, ATP1A1, CAPOS, DYT12, RDP, sodium/potassium-transporting ATPase subunit alpha-3, ATPase, Na+/K+ transporting, alpha 3 polypeptide, Na(+)/K(+) ATPase alpha(III) subunit, Na(+)/K(+) ATPase alpha-3 subunit, Na+, K+ activated adenosine triphosphatase alpha subunit, Na+/K+ ATPase 3, sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3, sodium-potassium-ATPase, alpha 3 polypeptide, sodium/potassium-transporting ATPase alpha-3 chain

Genomic Location:

Chr 19: 47162574-47190222

Description:

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, f...

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The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GCANCTGNY_MYOD_Q6 ,  ATGGYGGA_UNKNOWN ,  TGACCTY_ERR1_Q2 ,  GGGAGGRR_MAZ_Q6 ,  GGGYGTGNY_UNKNOWN ,  CAGGTA_AREB6_01 ,  RFX1_02 ,  TCTCTCC_MIR185 ,  NCX_01 ,  GTCNYYATGR_UNKNOWN ,  IK1_01 ,  CTGCAGY_UNKNOWN ,  TGACAGNY_MEIS1_01 ,  GRE_C ,  CTTTGT_LEF1_Q2 ,  GTTRYCATRR_UNKNOWN ,  GGGTGGRR_PAX4_03

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Cytogenetic Map:

19q13.2

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