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

2013-07-01  

Identity

HGNC
ATP4A
LOCATION
19q13.12
LOCUSID
495
ALIAS
ATP6A

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105675ENST00000262623P20648
ENSG00000105675ENST00000262623A0A384MR29
ENSG00000105675ENST00000592767M0R249

Expression (GTEx)

0
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

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Oxidative phosphorylationKEGGhsa00190
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

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
314013652020Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene Mutations.0
314013652020Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene Mutations.0
284016202018ATP4A autoimmunity in pediatric patients with type 1 diabetes and its relationship to blood count, iron metabolism, and vitamin B12.1
284016202018ATP4A autoimmunity in pediatric patients with type 1 diabetes and its relationship to blood count, iron metabolism, and vitamin B12.1
284742572017A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis.8
284742572017A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis.8
271505812016ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit.17
274910722016A 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.10
271505812016ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit.17
274910722016A 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.10
256785512015Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.36
256785512015Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.36
247735662014ATP4A autoimmunity and Helicobacter pylori infection in children with type 1 diabetes.3
247735662014ATP4A autoimmunity and Helicobacter pylori infection in children with type 1 diabetes.3
233172182012Intragenic DNA methylation concomitant with repression of ATP4B and ATP4A gene expression in gastric cancer is a potential serum biomarker.15

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)