ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)

2011-05-01  

Identity

HGNC
ATP1A3
LOCATION
19q13.2
LOCUSID
478
ALIAS
AHC2,ATP1A1,CAPOS,DYT12,RDP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 478
MIM: 182350
HGNC: 801
Ensembl: ENSG00000105409

Variants:

dbSNP: 478
ClinVar: 478
TCGA: ENSG00000105409
COSMIC: ATP1A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105409ENST00000441343A0A0A0MT26
ENSG00000105409ENST00000473086M0QXF2
ENSG00000105409ENST00000543770P13637
ENSG00000105409ENST00000545399P13637
ENSG00000105409ENST00000602133M0R116
ENSG00000105409ENST00000648268P13637

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Insulin secretionKEGGhsa04911
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Thyroid hormone signaling pathwayKEGGhsa04919
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
152609532004Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.136
228422322012De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.99
228505272012Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.66
247392462014Distinct neurological disorders with ATP1A3 mutations.61
263234792015α-synuclein assemblies sequester neuronal α3-Na+/K+-ATPase and impair Na+ gradient.58
244680742014A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.49
254479302015The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.31
262248392015Na, K-ATPase α3 is a death target of Alzheimer patient amyloid-β assembly.31
245234862014The expanding clinical and genetic spectrum of ATP1A3-related disorders.30
254339042015Altered glutamate protein co-expression network topology linked to spine loss in the auditory cortex of schizophrenia.29

Citation

Dessen P

ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/gene/52224/atp1a3