Atp1a1 MGI Mouse Gene Detail - MGI:88105 - ATPase, Na+/K+ transporting, alpha 1 polypeptide

Symbol

Atp1a1
Name

ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms

Atpa-1

Feature Type

protein coding gene
IDs

MGI:88105
NCBI Gene: 11928
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr3:101483535-101512000 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 44.30 cM, cytoband F3
Mapping Data

12 experiments

SNPs within 2kb

769 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88105	protein coding gene	Chr3:101483535-101512023 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027676	protein coding gene	Chr3:102758983-102787471 (-)
A/J	MGP_AJ_G0027635	protein coding gene	Chr3:99505584-99534057 (-)
AKR/J	MGP_AKRJ_G0027601	protein coding gene	Chr3:101970975-101999450 (-)
BALB/cJ	MGP_BALBcJ_G0027648	protein coding gene	Chr3:99260884-99289342 (-)
C3H/HeJ	MGP_C3HHeJ_G0027377	protein coding gene	Chr3:102254708-102283943 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028091	protein coding gene	Chr3:106540557-106570808 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025432	protein coding gene	Chr3:95700826-95729604 (-)
CAST/EiJ	MGP_CASTEiJ_G0026833	protein coding gene	Chr3:101354444-101384734 (-)
CBA/J	MGP_CBAJ_G0027352	protein coding gene	Chr3:110201448-110229935 (-)
DBA/2J	MGP_DBA2J_G0027495	protein coding gene	Chr3:98744987-98773444 (-)
FVB/NJ	MGP_FVBNJ_G0027463	protein coding gene	Chr3:96684534-96713011 (-)
LP/J	MGP_LPJ_G0027602	protein coding gene	Chr3:104114661-104143096 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027493	protein coding gene	Chr3:116377253-116405679 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028146	protein coding gene	Chr3:101453079-101481549 (-)
PWK/PhJ	MGP_PWKPhJ_G0026560	protein coding gene	Chr3:98507861-98536839 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026382	protein coding gene	Chr3:99537340-99567706 (-)
WSB/EiJ	MGP_WSBEiJ_G0026913	protein coding gene	Chr3:102014713-102043212 (-)

Human Ortholog

ATP1A1, ATPase Na+/K+ transporting subunit alpha 1

Vertebrate Orthologs

8

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP1A1, ATPase Na+/K+ transporting subunit alpha 1
Synonyms

CMT2DD, HOMGSMR2
Links

HGNC:799

NCBI Gene ID: 476

neXtProt AC: NX_P05023

UniProt: P05023
Chr Location

1p13.1; chr1:116372668-116410261 (+) GRCh38

MGI Vertebrate Homology

Atp1a1 stringent orthology
1 human;1 mouse;1 rat;6 zebrafish
HCOP

vertebrate homology predictions: ATP1A1
Gene Tree

Atp1a1

Diseases

1 with human ATP1A1 associations

				Human Disease	Mouse Models
				Charcot-Marie-Tooth disease type 2DD IDs Charcot-Marie-Tooth disease type 2DD DOID:0111558 OMIM:618036 ORDO:521414

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

24 phenotypes from 3 alleles in 5 genetic backgrounds
1 phenotype from multigenic genotypes
47 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

26
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

15
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Atp1a1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

61 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment.

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All GO Annotations

108
GO References

27

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1036
Tissues

252
cDNA Data

732
Literature Summary

67

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ATP1A1

Xenbase atp1a1

ZFIN atp1a1a.1, atp1a1a.2, atp1a1a.3, atp1a1a.4, atp1a1a.5, atp1a1b

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All Sequences

156
RefSeq

2
UniProt

6
CCDS

CCDS17683.1

Ensembl

ENSMUSG00000033161 (Evidence)
NCBI Gene

11928

			Length	Strain/Species	Flank
genomic	ENSMUSG00000033161	Ensembl Gene Model \| MGI Sequence Detail	28466	C57BL/6J	± kb
transcript	ENSMUST00000036493	Ensembl \| MGI Sequence Detail	3679	Not Applicable
polypeptide	ENSMUSP00000039657	Ensembl \| MGI Sequence Detail	1023	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004435 sodium/potassium-transporting ATPase subunit alpha-1

(term hierarchy)
EC

3.6.1.37, 7.2.2.13
InterPro Domains

IPR050510 Cation transport ATPase (P-type)

IPR006068 Cation-transporting P-type ATPase, C-terminal

IPR004014 Cation-transporting P-type ATPase, N-terminal

IPR036412 HAD-like superfamily

IPR023214 HAD superfamily

IPR001757 P-type ATPase

IPR008250 P-type ATPase, A domain superfamily

IPR023299 P-type ATPase, cytoplasmic domain N

IPR044492 P-type ATPase, haloacid dehalogenase domain

IPR018303 P-type ATPase, phosphorylation site

IPR005775 P-type ATPase subfamily IIC, subunit alpha

IPR023298 P-type ATPase, transmembrane domain superfamily
GlyGen

Q8VDN2 7 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (3 sites)

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All nucleic 746

Genomic 4

cDNA 739

Primer pair 3

Microarray probesets 5

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MGD-MRK-1457, MGD-MRK-1470, MGI:2387620

Summaries

All 188

Developmental Gene Expression 67

Diseases 1

Gene Ontology 27

Phenotypes 47
Earliest

J:7397 Levenson R, et al., Molecular cloning of the mouse ouabain-resistance gene. Proc Natl Acad Sci U S A. 1984 Mar;81(5):1489-93
Latest

J:346057 Lu D, et al., ESCRT-I protein UBAP1 controls ventricular expansion and cortical neurogenesis via modulating adherens junctions of radial glial cells. Cell Rep. 2024 Feb 24;43(3):113818

TSS for Atp1a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34807	Chr3:101512484-101512506 (-)	-495 bp
Tssr34806	Chr3:101512009-101512031 (-)	-20 bp
Tssr34805	Chr3:101511971-101512005 (-)	12 bp
Tssr34804	Chr3:101511965-101511970 (-)	32 bp
Tssr34803	Chr3:101511896-101511945 (-)	79 bp
Tssr34802	Chr3:101511855-101511868 (-)	138 bp
Tssr34801	Chr3:101502404-101502431 (-)	9,582 bp
Tssr34800	Chr3:101499889-101499900 (-)	12,105 bp
Tssr34799	Chr3:101499822-101499863 (-)	12,157 bp
Tssr34798	Chr3:101499804-101499815 (-)	12,190 bp
Tssr34797	Chr3:101499774-101499789 (-)	12,218 bp
Tssr34796	Chr3:101499751-101499763 (-)	12,243 bp
Tssr34795	Chr3:101491128-101491149 (-)	20,861 bp
Tssr34792	Chr3:101483678-101483692 (-)	28,315 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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