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

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; AllianceGenome:HGNC:14073
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: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (160151603..160186980)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159288690..159324059)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (160121393..160156770)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human ATP1A4 enhances mouse sperm motility and hyperactivity during capacitation.
Title: Role of human Na,K-ATPase alpha 4 in sperm function, derived from studies in transgenic mice.
Human Na,K-ATPase alpha 4 isoform is a sperm-specific protein localized to the flagellum, suggesting a role for human Na,K-ATPase alpha 4 isoform in human sperm physiology.
Title: The human Na,K-ATPase alpha 4 isoform is a ouabain-sensitive alpha isoform that is expressed in sperm.
These results constitute the first demonstration of the transcriptional control of ATP1A4 gene expression by cAMP and by CREMtau, a transcription factor essential for male germ cell gene expression.
Title: The transcription factor CREMtau and cAMP regulate promoter activity of the Na,K-ATPase alpha4 isoform.

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Phenotypes

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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

ATP1A4_8220 (e-PCR)
- UniSTS:471352

RH94243 (e-PCR)
- UniSTS:90976

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 ATPase-coupled monoatomic cation transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type sodium:potassium-exchanging transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables P-type sodium:potassium-exchanging transporter activity	TAS Traceable Author Statement more info	PubMed
enables kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in establishment or maintenance of transmembrane electrochemical gradient	IEA Inferred from Electronic Annotation more info
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
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 transport	NAS Non-traceable Author Statement more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cellular pH	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane potential	IEA Inferred from Electronic Annotation more info
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sodium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor cell cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in rod photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium:potassium-exchanging ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	TAS Traceable Author Statement more info	PubMed
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 7.2.2.13

NP_653300.2

EC 7.2.2.13

XP_011507884.1

EC 7.2.2.13

XP_054192735.1

EC 7.2.2.13

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_001001734.2 → NP_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:1 → 162

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_144699.4 → NP_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, Q504T2, Q7Z4I9, Q8TBN8, Q8WXA7, Q8WXH7, Q8WY13

Related

ENSP00000357060.4, ENST00000368081.9

Conserved Domains (6) summary

smart00831
Location:49 → 122

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

COG4087
Location:609 → 758

COG4087; Soluble P-type ATPase [General function prediction only]

TIGR01106
Location:35 → 1029

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

pfam00122
Location:154 → 373

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:805 → 1014

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:435 → 527

Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

160151603..160186980

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509582.2 → XP_011507884.1 sodium/potassium-transporting ATPase subunit alpha-4 isoform X1

Conserved Domains (6) summary

smart00831
Location:7 → 63

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

COG4087
Location:550 → 699

COG4087; Soluble P-type ATPase [General function prediction only]

TIGR01106
Location:8 → 970

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

pfam00122
Location:95 → 314

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:746 → 955

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:376 → 468

Cation_ATPase; Cation transport ATPase (P-type)