ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)

2010-07-01  

Identity

HGNC
ATP1A1
LOCATION
1p13.1
LOCUSID
476
ALIAS
CMT2DD,HOMGSMR2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 476
MIM: 182310
HGNC: 799
Ensembl: ENSG00000163399

Variants:

dbSNP: 476
ClinVar: 476
TCGA: ENSG00000163399
COSMIC: ATP1A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163399ENST00000295598P05023
ENSG00000163399ENST00000369494Q5TC01
ENSG00000163399ENST00000369496P05023
ENSG00000163399ENST00000418797Q5TC02
ENSG00000163399ENST00000440951Q5TC05
ENSG00000163399ENST00000537345P05023

Expression (GTEx)

0
100
200
300
400
500
600
700
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162409589ZEB1GenePathwayassociated23788015
PA164749044eplerenoneChemicalPathwayassociated23788015
PA30616MAPK1GenePathwayassociated23788015
PA30622MAPK3GenePathwayassociated23788015
PA31ADD1GenePathwayassociated23788015
PA31534NEDD4LGenePathwayassociated23788015
PA33663PPP2CAGenePathwayassociated23788015
PA33745PRKAA2GenePathwayassociated23788015
PA33765PRKCEGenePathwayassociated23788015
PA40GRK2GenePathwayassociated23788015
PA41GRK3GenePathwayassociated23788015
PA60ARRB2GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
239130042013Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.143
234165192013Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.133
149934222003Na+-K+--ATPase-mediated signal transduction: from protein interaction to cellular function.125
126710552003Hypoxia-induced endocytosis of Na,K-ATPase in alveolar epithelial cells is mediated by mitochondrial reactive oxygen species and PKC-zeta.94
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
162439702005The highly conserved cardiac glycoside binding site of Na,K-ATPase plays a role in blood pressure regulation.69
124611832002Homology modeling of the cation binding sites of Na+K+-ATPase.48
167233542006Distinct role of the N-terminal tail of the Na,K-ATPase catalytic subunit as a signal transducer.39
240820522014Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.38
192434762009The sodium pump alpha1 sub-unit: a disease progression-related target for metastatic melanoma treatment.33

Citation

Dessen P

ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-07-01

Online version: http://atlasgeneticsoncology.org/gene/51554/atp1a1