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ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit [ Homo sapiens (human) ]

Gene ID: 479, updated on 4-Jun-2020

Summary

Official Symbol
ATP12Aprovided by HGNC
Official Full Name
ATPase H+/K+ transporting non-gastric alpha2 subunitprovided by HGNC
Primary source
HGNC:HGNC:13816
See related
Ensembl:ENSG00000075673 MIM:182360
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
HK; ATP1AL1; H-K-ATPase
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Expression
Biased expression in esophagus (RPKM 7.0), kidney (RPKM 4.1) and 5 other tissues See more
Orthologs

Genomic context

See ATP12A in Genome Data Viewer
Location:
13q12.12; 13q12.1-q12.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (24680408..24712472)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25254549..25285923)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 Neighboring gene uncharacterized LOC107984610 Neighboring gene ribosomal protein L26 pseudogene 34 Neighboring gene RNY1 pseudogene 7 Neighboring gene uncharacterized LOC105370118 Neighboring gene clustered mitochondria homolog pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
potassium:proton exchanging ATPase activity IEA
Inferred from Electronic Annotation
more info
 
sodium:potassium-exchanging ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular sodium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment or maintenance of transmembrane electrochemical gradient IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of pH IEA
Inferred from Electronic Annotation
more info
 
sodium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
potassium:proton exchanging ATPase complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
potassium-transporting ATPase alpha chain 2
Names
ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATPase, Na+/K+ transporting, alpha polypeptide-like 1
NP_001172014.1
NP_001667.4

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001185085.1NP_001172014.1  potassium-transporting ATPase alpha chain 2 isoform 1

    See identical proteins and their annotated locations for NP_001172014.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK303498, BC031609, CA450333, DB216724, U02076
    Consensus CDS
    CCDS53858.1
    UniProtKB/Swiss-Prot
    P54707
    UniProtKB/TrEMBL
    B4E0R9
    Related
    ENSP00000218548.6, ENST00000218548.10
    Conserved Domains (1) summary
    TIGR01106
    Location:421045
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
  2. NM_001676.7NP_001667.4  potassium-transporting ATPase alpha chain 2 isoform 2

    See identical proteins and their annotated locations for NP_001667.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK303498, AL157364, CA450333, DB216724, U02076
    Consensus CDS
    CCDS31948.1
    UniProtKB/Swiss-Prot
    P54707
    UniProtKB/TrEMBL
    B4E0R9
    Related
    ENSP00000371372.3, ENST00000381946.4
    Conserved Domains (6) summary
    smart00831
    Location:56126
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:689747
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:421039
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:150380
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:8141024
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:442536
    Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    24680408..24712472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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