ATP4A (ATPase H+/K+ transporting subunit alpha)

2013-07-01 Affiliation

Identity

HGNC

ATP4A

LOCATION

19q13.12

LOCUSID

495

ALIAS

ATP6A

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 495
MIM: 137216
HGNC: 819
Ensembl: ENSG00000105675

Variants:

dbSNP: 495
ClinVar: 495
TCGA: ENSG00000105675
COSMIC: ATP4A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105675	ENST00000262623	P20648
ENSG00000105675	ENST00000262623	A0A384MR29
ENSG00000105675	ENST00000592767	M0R249

Expression (GTEx)

500

1000

1500

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Oxidative phosphorylation	KEGG	hsa00190
Collecting duct acid secretion	KEGG	ko04966
Collecting duct acid secretion	KEGG	hsa04966
Gastric acid secretion	KEGG	ko04971
Gastric acid secretion	KEGG	hsa04971
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ion transport by P-type ATPases	REACTOME	R-HSA-936837

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
25678551	2015	Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.	15
18772363	2008	The role of Sp1 in IL-1beta and H. pylori-mediated regulation of H,K-ATPase gene transcription.	7
23317218	2012	Intragenic DNA methylation concomitant with repression of ATP4B and ATP4A gene expression in gastric cancer is a potential serum biomarker.	6
27150581	2016	ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit.	6
27491072	2016	A knockin mouse model for human ATP4aR703C mutation identified in familial gastric neuroendocrine tumors recapitulates the premalignant condition of the human disease and suggests new therapeutic strategies.	3
28474257	2017	A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis.	3
19705497	2009	Dysregulation of gastric H,K-ATPase by cigarette smoke extract.	2
24773566	2014	ATP4A autoimmunity and Helicobacter pylori infection in children with type 1 diabetes.	2
15962365	2005	Direct measurement of gastric H+/K+-ATPase activities in patients with or without Helicobacter pylori-associated chronic gastritis.	1
28401620	2018	ATP4A autoimmunity in pediatric patients with type 1 diabetes and its relationship to blood count, iron metabolism, and vitamin B12.	0

Citation

Dessen P

ATP4A (ATPase H+/K+ transporting subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53466/atp4a-(atpase-h+-k+-transporting-subunit-alpha)