ATP1A3 - ATPase Na+/K+ transporting subunit alpha 3 Gene
Also Known as RDP; AHC2; CAPOS; DEE99; DYT12; ATP1A1
Species: Homo sapiens
About ATP1A3
This gene has 14 transcripts (splice variants), 135 orthologues, 21 paralogues and is associated with 9 phenotypes. Biased expression in brain (RPKM 145.6), heart (RPKM 51.8) and 2 other tissues.
Summary
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]
ATP1A3 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001256213.2 | NP_001243142.1 | sodium/potassium-transporting ATPase subunit alpha-3 isoform 2 |
| NM_001256214.2 | NP_001243143.1 | sodium/potassium-transporting ATPase subunit alpha-3 isoform 3 |
| NM_152296.5 | NP_689509.1 | sodium/potassium-transporting ATPase subunit alpha-3 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables P-type sodium:potassium-exchanging transporter activity |
IDA
IDA: Inferred from direct assay
|
10636900 | GOA |
| enables P-type sodium:potassium-exchanging transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
15260953 | GOA |
| enables amyloid-beta binding |
IDA
IDA: Inferred from direct assay
|
26224839 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| enables protein-folding chaperone binding |
IPI
IPI: Inferred from physical interaction
|
10636900 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in intracellular potassium ion homeostasis |
IDA
IDA: Inferred from direct assay
|
10636900 | GOA |
| involved in intracellular sodium ion homeostasis |
IDA
IDA: Inferred from direct assay
|
10636900 | GOA |
| involved in neuron projection maintenance |
IGI
IGI: Inferred from genetic interaction
|
26224839 | GOA |
| involved in potassium ion import across plasma membrane |
IDA
IDA: Inferred from direct assay
|
10636900 | GOA |
| involved in sodium ion export across plasma membrane |
IDA
IDA: Inferred from direct assay
|
10636900 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
15260953 | GOA |
| located in axon |
IDA
IDA: Inferred from direct assay
|
26224839 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
15260953 | GOA |
| located in neuronal cell body |
IDA
IDA: Inferred from direct assay
|
26224839 | GOA |
| located in organelle membrane |
IGI
IGI: Inferred from genetic interaction
|
19751721 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15260953 | GOA |
| located in plasma membrane |
IGI
IGI: Inferred from genetic interaction
|
19751721 | GOA |
| part of sodium:potassium-exchanging ATPase complex |
IDA
IDA: Inferred from direct assay
|
10636900 | GOA |
ATP1A3 Protein Structure
Cation_ATPase_N: Cation transporter/ATPase, N-terminus (33 - 101)
E1-E2_ATPase: E1-E2 ATPase (125 - 356)
Hydrolase: haloacid dehalogenase-like hydrolase (361 - 719)
Cation_ATPase_C: Cation transporting ATPase, C-terminus (789 - 998)
- 0
- 200
- 400
- 600
- 800
- 1013 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium/potassium-transporting ATPase subunit alpha-3 |
|
ATP1A3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ATP1A3 | P13637 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
ATP1A3 | P13637 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
ATP1A3 | P13637 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
ATP1A3 | P13637 | BOK | Homo sapiens | Q9UMX3 | 32814053 | |
|
Intra
|
ATP1A3 | P13637 | BOK | Homo sapiens | Q9UMX3 | 32814053 | |
|
Intra
|
ATP1A3 | P13637 | BOK | Homo sapiens | Q9UMX3 | 32814053 |
ATP1A3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82717 | ATP1A3 Antibody (YA2462) | WB | Human, Mouse, Rat |
| HY-P85863 | Sodium Potassium ATPase Antibody (YA5555) | IHC-P, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86104 | Sodium Potassium ATPase Antibody (YA5796) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Dystonia 12 |
|
|
| Alternating Hemiplegia Of Childhood 2 |
|
|
| Developmental And Epileptic Encephalopathy 99 |
|
|
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
|
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
|
| Dystonia |
|
|
| Hemiplegia |
|
|
| Oculogyric Crisis |
|
|
| Atp1a3-Related Neurologic Disorders |
|
|
| Alternating Hemiplegia Of Childhood |
|
|
| Seizures, Benign Familial Neonatal, 1 |
|
|
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
|
| Hydrocephalus, Congenital, 1 |
|
|
| Epicanthus |
|
|
| Epilepsy |
|
|
| Parkinsonism |
|
|
| Familial Hemiplegic Migraine |
|
|
| Quadriplegia |
|
|
| Movement Disease |
|
|
| Hemidystonia |
|
|
| Dystonia 3, Torsion, X-Linked |
|
|
| Migraine, Familial Hemiplegic, 2 |
|
|
| Multifocal Dystonia |
|
|
| Cowden Syndrome 5 |
|
|
| Oromandibular Dystonia |
|
|
| Polymicrogyria |
|
|
| Spasmodic Dystonia |
|
|
| Spinocerebellar Ataxia 26 |
|
|
| Segmental Dystonia |
|
|
| Cervical Dystonia |
|
|
| 46,Xy Sex Reversal 6 |
|
|
| Cortical Deafness |
|
|
| Focal Dystonia |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
|
| Dystonia, Dopa-Responsive |
|
|
| Dystonia 11, Myoclonic |
|
|
| Hypomagnesemia 2, Renal |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Mutism |
|
|
| Sensorineural Hearing Loss |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
|
| Immunodeficiency 50 |
|
|
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
|
| Blepharospasm |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Cranial Nerve Disease |
|
|
| Episodic Ataxia |
|
|
| Optic Nerve Disease |
|
|
| Migraine, Familial Hemiplegic, 3 |
|
|
| Choreatic Disease |
|
|
| Episodic Ataxia, Type 8 |
|
|
| Hereditary Ataxia |
|
|
| Cerebellar Disease |
|
|
| Inner Ear Disease |
|
|
| Migraine With Aura |
|
|
| Auditory System Disease |
|
|
| Leukodystrophy, Hypomyelinating, 6 |
|
|
| Spastic Diplegia |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
|
| Migraine With Or Without Aura 1 |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ATP1A3 | VGNC | VGNC:26283 |
| Canis familiaris | ATP1A3 | VGNC | VGNC:38246 |
| Mus musculus | ATP1A3 | MGD | MGI:88107 |
| Rattus norvegicus | ATP1A3 | RGD | RGD:2169 |
| Others | ATP1A3 | NCBI |