ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 | DYT12

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. [provided by RefSeq, Jan 2012]

Developmental clusters: GC4
Biological processes 56 terms
ATP binding (GO:0005524)ATP binding (GO:0005524)ATP hydrolysis activity (GO:0016887)Golgi apparatus (GO:0005794)P-type potassium transmembrane transporter activity (GO:0008556)P-type sodium:potassium-exchanging transporter activity (GO:0005391)P-type sodium:potassium-exchanging transporter activity (GO:0005391)P-type sodium:potassium-exchanging transporter activity (GO:0005391)P-type sodium:potassium-exchanging transporter activity (GO:0005391)P-type sodium:potassium-exchanging transporter activity (GO:0005391)amyloid-beta binding (GO:0001540)amyloid-beta binding (GO:0001540)axon (GO:0030424)cell communication by electrical coupling involved in cardiac conduction (GO:0086064)cellular response to amyloid-beta (GO:1904646)cellular response to steroid hormone stimulus (GO:0071383)endoplasmic reticulum (GO:0005783)establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)extracellular vesicle (GO:1903561)intracellular monoatomic cation homeostasis (GO:0030003)intracellular potassium ion homeostasis (GO:0030007)intracellular potassium ion homeostasis (GO:0030007)intracellular sodium ion homeostasis (GO:0006883)intracellular sodium ion homeostasis (GO:0006883)membrane (GO:0016020)membrane (GO:0016020)membrane (GO:0016020)neuron projection maintenance (GO:1990535)neuron to neuron synapse (GO:0098984)neuronal cell body (GO:0043025)neuronal cell body membrane (GO:0032809)nucleotide binding (GO:0000166)organelle membrane (GO:0031090)photoreceptor inner segment (GO:0001917)photoreceptor inner segment membrane (GO:0060342)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)potassium ion import across plasma membrane (GO:1990573)potassium ion import across plasma membrane (GO:1990573)potassium ion transport (GO:0006813)protein binding (GO:0005515)protein-folding chaperone binding (GO:0051087)proton transmembrane transport (GO:1902600)regulation of resting membrane potential (GO:0060075)response to glycoside (GO:1903416)sodium ion export across plasma membrane (GO:0036376)sodium ion export across plasma membrane (GO:0036376)sodium:potassium-exchanging ATPase complex (GO:0005890)sodium:potassium-exchanging ATPase complex (GO:0005890)sodium:potassium-exchanging ATPase complex (GO:0005890)sodium:potassium-exchanging ATPase complex (GO:0005890)steroid hormone binding (GO:1990239)synapse (GO:0045202)
Expression (TPM)
ATP1A3 — as a Regulated Gene

TFs regulating ATP1A3 0 TFs

Transcription factors with Perturb-seq knockdown data for ATP1A3. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ATP1A3 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ATP1A3

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ATP1A3, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr19:41,706,740–41,707,217 287.1 kb Distal (>10kb) Multiome 420
chr19:41,859,455–41,860,753 134.2 kb Distal (>10kb) Multiome 1018
chr19:41,883,883–41,884,651 109.8 kb Distal (>10kb) Multiome 917
chr19:41,927,700–41,928,620 65.9 kb Distal (>10kb) Multiome 277
chr19:41,957,648–41,959,799 34.6 kb Distal (>10kb) Multiome 839
chr19:41,993,779–41,994,412 125 bp At TSS Multiome 360
chr19:41,997,205–41,997,569 3.1 kb Proximal (<10kb) 257
chr19:41,998,577–41,999,349 4.8 kb Proximal (<10kb) Multiome 292
chr19:42,075,557–42,076,657 82.0 kb Distal (>10kb) Multiome 846
chr19:42,095,735–42,096,278 101.9 kb Distal (>10kb) Multiome 107
chr19:42,132,949–42,133,545 139.2 kb Distal (>10kb) Multiome 447
chr19:42,176,787–42,177,398 183.1 kb Distal (>10kb) Multiome 381
chr19:42,216,521–42,218,719 223.6 kb Distal (>10kb) Multiome 841
chr19:42,219,693–42,220,678 226.2 kb Distal (>10kb) Multiome 735
chr19:42,241,985–42,243,820 248.9 kb Distal (>10kb) Multiome 891
chr19:42,244,086–42,245,258 250.8 kb Distal (>10kb) Multiome 768
chr19:42,253,030–42,256,178 261.2 kb Distal (>10kb) Multiome 900
chr19:42,267,812–42,269,463 274.8 kb Distal (>10kb) Multiome 887
chr19:42,279,620–42,280,909 286.0 kb Distal (>10kb) Multiome 818
chr19:42,283,173–42,285,280 289.9 kb Distal (>10kb) Multiome 739

Genome Browser

Genomic view of the ATP1A3 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr19:41,696,740 – 42,295,280
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq