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ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 [ Homo sapiens (human) ]

Gene ID: 480, updated on 2-Mar-2021

Summary

Official Symbol
ATP1A4provided by HGNC
Official Full Name
ATPase Na+/K+ transporting subunit alpha 4provided by HGNC
Primary source
HGNC:HGNC:14073
See related
Ensembl:ENSG00000132681 MIM:607321
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
ATP1A1; ATP1AL2
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 7.3), brain (RPKM 2.1) and 4 other tissues See more
Orthologs
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Genomic context

See ATP1A4 in Genome Data Viewer
Location:
1q23.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160151603..160186980)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160121393..160156770)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5459 Neighboring gene ATPase Na+/K+ transporting subunit alpha 2 Neighboring gene calsequestrin 1 Neighboring gene uncharacterized LOC729867 Neighboring gene proliferation and apoptosis adaptor protein 15

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC25056

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase-coupled cation transmembrane transporter activity IGI
Inferred from Genetic Interaction
more info
PubMed 
P-type sodium:potassium-exchanging ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
P-type sodium:potassium-exchanging ATPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
P-type sodium:potassium-exchanging ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
P-type sodium:potassium-exchanging ATPase activity TAS
Traceable Author Statement
more info
PubMed 
kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell surface receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
fertilization IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IDA
Inferred from Direct Assay
more info
PubMed 
flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
ion transport NAS
Non-traceable Author Statement
more info
PubMed 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cellular pH IDA
Inferred from Direct Assay
more info
PubMed 
regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
sodium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
sodium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium ion transport TAS
Traceable Author Statement
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor cell cilium IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
rod photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
sodium:potassium-exchanging ATPase complex IPI
Inferred from Physical Interaction
more info
PubMed 
sodium:potassium-exchanging ATPase complex TAS
Traceable Author Statement
more info
PubMed 
sperm midpiece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sodium/potassium-transporting ATPase subunit alpha-4
Names
ATPase, Na+/K+ transporting, alpha 4 polypeptide
ATPase, Na+/K+ transporting, alpha polypeptide-like 2
Na(+)/K(+) ATPase alpha-4 subunit
Na+/K+ ATPase 4
Na+/K+ ATPase, alpha-D polypeptide
Na,K-ATPase subunit alpha-C
sodium pump 4
sodium pump subunit alpha-4
sodium-potassium ATPase catalytic subunit alpha-4
sodium/potassium-transporting ATPase alpha-4 chain
NP_001001734.1
NP_653300.2
XP_011507884.1

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)

  1. NM_001001734.2NP_001001734.1  sodium/potassium-transporting ATPase subunit alpha-4 isoform 2

    See identical proteins and their annotated locations for NP_001001734.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2), which has not been experimentally confirmed, has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AL121987, BC028297
    Consensus CDS
    CCDS44255.1
    UniProtKB/Swiss-Prot
    Q13733
    Related
    ENSP00000433094.1, ENST00000470705.1
    Conserved Domains (1) summary
    cl21460
    Location:1162
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_144699.4NP_653300.2  sodium/potassium-transporting ATPase subunit alpha-4 isoform 1

    See identical proteins and their annotated locations for NP_653300.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AL121987, BC028297, BC036052, BC094801, BX647234, DB094047
    Consensus CDS
    CCDS1197.1
    UniProtKB/Swiss-Prot
    Q13733
    Related
    ENSP00000357060.4, ENST00000368081.9
    Conserved Domains (6) summary
    smart00831
    Location:49122
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:609758
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:351029
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:154373
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:8051014
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:435527
    Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    160151603..160186980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509582.1XP_011507884.1  sodium/potassium-transporting ATPase subunit alpha-4 isoform X1

    Conserved Domains (6) summary
    smart00831
    Location:763
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    COG4087
    Location:550699
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01106
    Location:8970
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    pfam00122
    Location:95314
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:746955
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:376468
    Cation_ATPase; Cation transport ATPase (P-type)
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