ATP4A ATPase H+/K+ transporting subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP4Aprovided by HGNC
Official Full Name: ATPase H+/K+ transporting subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:819
See related: Ensembl:ENSG00000105675 MIM:137216; AllianceGenome:HGNC:819
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATP6A
Summary: The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward stomach (RPKM 218.2) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35550031..35563658, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38094977..38108614, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36040933..36054560, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene Mutations.
Title: Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene Mutations.
ATP4A antibodies were present in a significant proportion of children with type 1 diabetes (T1D). Higher ATP4A levels in T1D children are associated with lower, yet still fitting within the normal range, levels of vitamin B12, and ferritin.
Title: ATP4A autoimmunity in pediatric patients with type 1 diabetes and its relationship to blood count, iron metabolism, and vitamin B12.
Heterozygous mutations in the ATP4A and PTH1R genes were identified in a family with type I gastric neuroendocrine tumors plus hypothyroidism and rheumatoid arthritis
Title: A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis.
the generation and characterization of a knockin mouse model for the ATP4a(R703C) mutation to better understand the tumorigenesis process.
Title: 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.
In conclusion, patients homozygous for an inactivating ATP4A mutation develop gastric ECL-cell carcinoids in their 3rd or 4th decade.
Title: ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit.
Homozygous missense mutation in the 14th exon of the ATP4A gene (c.2107C>T) is responsible for an atypical familial type I gastric neuroendocrine tumour.
Title: Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.
ATP4A are found in nearly one-third of children with type 1 diabetes and more common among females. In this cross-sectional analysis, Hp infection was not associated with autoimmunity against parietal cells.
Title: ATP4A autoimmunity and Helicobacter pylori infection in children with type 1 diabetes.
Downregulation of ATP4A gene is associated with gastric cancer.
Title: Intragenic DNA methylation concomitant with repression of ATP4B and ATP4A gene expression in gastric cancer is a potential serum biomarker.
cigarette smoke extract may cause an increase in the amount and activity of H,K-ATPase and smokers' susceptibility to development of peptic ulcer
Title: Dysregulation of gastric H,K-ATPase by cigarette smoke extract.
study concludes that IL-1beta upregulates HKalpha transcription by inducing Sp1 binding to HKalpha Sp1 & NF-kappaB sites & that Helicobacter pylori perturbation of HKalpha expression is independent of Sp1-mediated basal HKalpha transcription
Title: The role of Sp1 in IL-1beta and H. pylori-mediated regulation of H,K-ATPase gene transcription.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S1084 (e-PCR)
- UniSTS:22851

ATP4A__4392 (e-PCR)
- UniSTS:463237

ATP4A (e-PCR)
- UniSTS:262099

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables P-type potassium:proton transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type potassium:proton transporter activity	TAS Traceable Author Statement more info
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables potassium ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in establishment or maintenance of transmembrane electrochemical gradient	IEA Inferred from Electronic Annotation more info
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in pH reduction	IEA Inferred from Electronic Annotation more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of proton transport	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of potassium:proton exchanging ATPase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: potassium-transporting ATPase alpha chain 1

Names: ATPase H+/K+ transporting alpha subunit; ATPase, H+/K+ exchanging, alpha polypeptide; ATPase, H+/K+ transporting, alpha polypeptide; epididymis secretory sperm binding protein; gastric H+/K+ ATPase alpha subunit; gastric H,K-ATPase catalytic subunit; gastric hydrogen-potassium ATPase; proton pump

NP_000695.2

EC 7.2.2.19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000704.3 → NP_000695.2 potassium-transporting ATPase alpha chain 1

See identical proteins and their annotated locations for NP_000695.2

Status: REVIEWED

Source sequence(s)

AC002389, AK058032, AL832971

Consensus CDS

CCDS12467.1

UniProtKB/Swiss-Prot

O00738, P20648

UniProtKB/TrEMBL

A0A384MR29, Q53FM3

Related

ENSP00000262623.2, ENST00000262623.4

Conserved Domains (2) summary

TIGR01106
Location:43 → 1035

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

pfam09040
Location:2 → 22

H-K_ATPase_N; Gastric H+/K+-ATPase, N terminal domain