Gene

atp1a1a.2

ID

ZDB-GENE-001212-2

Name

ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 2

Symbol

atp1a1a.2 Nomenclature History

Previous Names

atp[a]1A2b (1)
cb703 (1)
zgc:110523

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to have sodium:potassium-exchanging ATPase activity. Involved in semicircular canal morphogenesis. 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 immature eye; integument; intermediate mesoderm; nervous system; and yolk. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

25 figures from 12 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb703 (17 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Minhas et al., 2021
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp1a1a.2 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.2 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:Q9DGL4 InterPro	1023

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	atp1a1a.2-201 (1) Ensembl	Ensembl	3,232 nt	Select Tool ZFIN BLAST
mRNA	atp1a1a.2-202 (1) Ensembl	Ensembl	479 nt	Select Tool ZFIN BLAST
ncRNA	atp1a1a.2-002 (1) Ensembl	Ensembl	867 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations