atp1a1a.1 ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: atp1a1a.1provided by ZNC
Official Full Name: ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-001212-1
See related: Ensembl:ENSDARG00000002791 AllianceGenome:ZFIN:ZDB-GENE-001212-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: hip; cb70; atp1a1; hiphop; atp1a1l1; atp[a]1B1; wu:fa03c03; wu:fb92h10
Summary: Enables P-type sodium:potassium-exchanging transporter activity. Acts upstream of or within several processes, including animal organ development; embryonic body morphogenesis; and regulation of heart rate. Predicted to be integral component of membrane. Is expressed in several structures, including cardiovascular system; immature eye; mesoderm; nervous system; and pronephros. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (1712169..1731564)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (1564375..1583770)

Chromosome 1 - NC_007112.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Na(+)/K(+)-ATPase pump (NKA) was less abundant in the basolateral membrane and was mislocalized to apical bundles in ap1b1 mutant hair cells.
Title: Mutations in ap1b1 cause mistargeting of the Na(+)/K(+)-ATPase pump in sensory hair cells.
Data indicate that Atp1a1 and Fxyd1 co-regulate brain ventricle development.
Title: Multiple roles for the Na,K-ATPase subunits, Atp1a1 and Fxyd1, during brain ventricle development.
Atp1a1 activity in the yolk syncytial layer regulates zebrafish heart tube morphogenesis.
Title: Sodium pump activity in the yolk syncytial layer regulates zebrafish heart tube morphogenesis.
ATP1a1a.1, ATP1a1a.2, and ATP1a1a.5 may provide driving force for Na+-coupled cotransporter activity in gill ionocytes.
Title: Expression regulation of Na+-K+-ATPase alpha1-subunit subtypes in zebrafish gill ionocytes.
identification of a mutant, heart and mind, (had) which exhibits multiple cardiac defects; molecular cloning reveals that the lesion resides in the alpha1B1 isoform of Na,K-ATPase.
Title: Na,K-ATPase is essential for embryonic heart development in the zebrafish.
lumen inflation of developing cerebral ventricles requires atp1a1a.1 function
Title: Initial formation of zebrafish brain ventricles occurs independently of circulation and requires the nagie oko and snakehead/atp1a1a.1 gene products.
Na(+),K(+) ATPase activity is positively regulated via an N-terminal phosphorylation site that is necessary for correct heart morphogenesis to occur.
Title: Involvement of zebrafish Na+,K+ ATPase in myocardial cell junction maintenance.
the Na,K-ATPase is required downstream or in parallel to monocilia function during initiation of left-right asymmetry in zebrafish
Title: A mutation in the zebrafish Na,K-ATPase subunit atp1a1a.1 provides genetic evidence that the sodium potassium pump contributes to left-right asymmetry downstream or in parallel to nodal flow.

Submit: New GeneRIF Correction

General gene information

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Markers

atn1 (e-PCR)
- UniSTS:205679

fc87d08.y1 (e-PCR)
- UniSTS:194704

fb51c04.x1 (e-PCR)
- UniSTS:190652

aa495435 (e-PCR)
- UniSTS:186857

Gene Ontology Provided by ZFIN

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 transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell migration involved in heart formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	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
acts_upstream_of_or_within midbrain-hindbrain boundary development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within otic vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otic vesicle formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otolith development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within otolith development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement 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 sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit alpha-1a.1

Names: ATPase, Na+/K+ transporting, alpha 1 polypeptide like 1; ATPase, Na+/K+ transporting, alpha 1a polypeptide, tandem duplicate 1; ATPase, Na+/K+ transporting, alpha 1a.1 polypeptide; had; heart and mind; snakehead; snk

NP_571761.1

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_131686.1 → NP_571761.1 sodium/potassium-transporting ATPase subunit alpha-1a.1

See identical proteins and their annotated locations for NP_571761.1

Status: PROVISIONAL

Source sequence(s)

AY028630

UniProtKB/TrEMBL

Q6P3M2, Q9DGL6

Related

ENSDARP00000075490.4, ENSDART00000081047.5

Conserved Domains (6) summary

smart00831
Location:43 → 117

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

COG4087
Location:611 → 757

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

TIGR01106
Location:38 → 1028

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

pfam00122
Location:137 → 368

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:804 → 1013

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:430 → 526

Cation_ATPase; Cation transport ATPase (P-type)