Gene

atp1a1a.1

ID

ZDB-GENE-001212-1

Name

ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 1

Symbol

atp1a1a.1 Nomenclature History

Previous Names

atp1a1
atp[a]1B1 (1)
cb70 (1)
had (1)
hip (1)
hiphop (1)
snk (1)
heart and mind (1)
snakehead (1)
wu:fa03c03
wu:fb92h10 (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Exhibits sodium:potassium-exchanging ATPase activity. Involved in several processes, including animal organ development; embryonic body morphogenesis; and regulation of heart rate. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Is expressed in several structures, including cardiovascular system; immature eye; mesoderm; nervous system; and pronephros. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

31 figures from 14 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb70 (22 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 40 figures from 13 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp1a1a.1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Charcot-Marie-Tooth disease type 2DD	Alliance	Charcot-Marie-Tooth disease, axonal, type 2DD	618036
		Hypomagnesemia, seizures, and impaired intellectual development 2	618314

Associated With atp1a1a.1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004014	Cation-transporting P-type ATPase, N-terminal
Domain	IPR006068	Cation-transporting P-type ATPase, C-terminal
Domain	IPR044492	P-type ATPase, haloacid dehalogenase domain
Family	IPR001757	P-type ATPase
Family	IPR005775	P-type ATPase subfamily IIC, subunit alpha
Family	IPR050510	Cation transport ATPase (P-type)
Homologous_superfamily	IPR008250	P-type ATPase, A domain superfamily
Homologous_superfamily	IPR023214	HAD superfamily
Homologous_superfamily	IPR023298	P-type ATPase, transmembrane domain superfamily
Homologous_superfamily	IPR023299	P-type ATPase, cytoplasmic domain N
Homologous_superfamily	IPR036412	HAD-like superfamily
PTM	IPR018303	P-type ATPase, phosphorylation site

Domain Details Per Protein

Protein	Length	Cation transport ATPase (P-type)	Cation-transporting P-type ATPase, C-terminal	Cation-transporting P-type ATPase, N-terminal	HAD-like superfamily	HAD superfamily	P-type ATPase	P-type ATPase, A domain superfamily	P-type ATPase, cytoplasmic domain N	P-type ATPase, haloacid dehalogenase domain	P-type ATPase, phosphorylation site	P-type ATPase subfamily IIC, subunit alpha	P-type ATPase, transmembrane domain superfamily
UniProtKB:Q9DGL6 InterPro	1028

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	atp1a1a.1-201 (1) Ensembl	Ensembl	3,506 nt	Select Tool
ncRNA	atp1a1a.1-002 (1) Ensembl	Ensembl	867 nt	Select Tool
ncRNA	atp1a1a.1-003 (1) Ensembl	Ensembl	416 nt	Select Tool
ncRNA	atp1a1a.1-004 (1) Ensembl	Ensembl	313 nt	Select Tool
ncRNA	atp1a1a.1-005 (1) Ensembl	Ensembl	652 nt	Select Tool
ncRNA	atp1a1a.1-006 (1) Ensembl	Ensembl	772 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab3-atp1a1	polyclonal	atp1a1a.1		Rabbit	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations