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Details of ATP1A3 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ATP1A3 | --- | P13637 | AT1A3_HUMAN | 478 | ENSG00000105409 | Sodium/potassium-transporting ATPase subunit alpha-3 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Dystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. Note=The disease is caused by mutations affecting the gene represented in this entry. | 128235 | Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614820 | ||||||
Phenotypes
Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of central motor function, Abnormality of extrapyramidal motor function, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of salivation, Abnormality of temperature regulation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the esophagus, Abnormality of the face, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the musculature of the neck, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the oral cavity, Adult onset, Age of onset, All, Anxiety, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Bradykinesia, Depression, Drooling, Dysarthria, Dysphagia, Dystonia, Emotional lability, Excessive salivation, Fever, Focal dystonia, Gait disturbance, Hypomimic face, Incomplete penetrance, Juvenile onset, Late onset, Mode of inheritance, Mutism, Neurological speech impairment, Onset, Onset and clinical course, Parkinsonism, Phenotypic abnormality, Phenotypic variability, Postural instability, Spasmodic torticollis, Unsteady gait.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Atp1a3 | Atpalpha | eat-6 | Sp-Atp1a3 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| ATP1B4 | ATP1A3 | 0.74041412 | ATP1B4 | ATP1A3 | cpx91 | no | no | no | Novel |
| ATP1B3 | ATP1A3 | 0.711537501 | ATP1B3 | ATP1A3 | cpx91 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| ATP1A3 | ATP6V1A | 0.28001821 | ATP1A3 | ATP6V1A |
| RAB1B | ATP1A3 | 0.254029383 | RAB1B | ATP1A3 |
| ATP1A3 | CCT7 | 0.076945122 | ATP1A3 | CCT7 |
| ATP1A3 | ATP6V0D1 | 0.112023085 | ATP1A3 | ATP6V0D1 |
| ATP1A3 | VDAC1 | 0.082020579 | ATP1A3 | VDAC1 |
| ATP1A3 | VDAC2 | 0.105148723 | ATP1A3 | VDAC2 |
| RAB1A | ATP1A3 | 0.28527026 | RAB1A | ATP1A3 |
| CLTC | ATP1A3 | 0.25029713 | CLTC | ATP1A3 |