Atp2b1 MGI Mouse Gene Detail - MGI:104653 - ATPase, Ca++ transporting, plasma membrane 1

Symbol

Atp2b1
Name

ATPase, Ca++ transporting, plasma membrane 1
Synonyms

2810442I22Rik, E130111D10Rik, PMCA1

Feature Type

protein coding gene
IDs

MGI:104653
NCBI Gene: 67972
Alliance

gene page
Transcription Start Sites

24 TSS

Sequence Map

Chr10:98750268-98862005 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 50.97 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

2613 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104653	protein coding gene	Chr10:98750243-98862005 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017682	protein coding gene	Chr10:100714338-100831744 (+)
A/J	MGP_AJ_G0017661	protein coding gene	Chr10:97082491-97194162 (+)
AKR/J	MGP_AKRJ_G0017621	protein coding gene	Chr10:99873472-99984214 (+)
BALB/cJ	MGP_BALBcJ_G0017625	protein coding gene	Chr10:97358490-97472064 (+)
C3H/HeJ	MGP_C3HHeJ_G0017448	protein coding gene	Chr10:99882583-99997563 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018081	protein coding gene	Chr10:104196681-104320844 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015762	protein coding gene	Chr10:92521680-92628359 (+)
CAST/EiJ	MGP_CASTEiJ_G0017011	protein coding gene	Chr10:100009883-100070376 (+)
CBA/J	MGP_CBAJ_G0017417	protein coding gene	Chr10:108303172-108420710 (+)
DBA/2J	MGP_DBA2J_G0017523	protein coding gene	Chr10:96164229-96276674 (+)
FVB/NJ	MGP_FVBNJ_G0017516	protein coding gene	Chr10:95387224-95498846 (+)
LP/J	MGP_LPJ_G0017597	protein coding gene	Chr10:101293310-101410361 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017546	protein coding gene	Chr10:109562270-109682279 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018119	protein coding gene	Chr10:99779685-99891681 (+)
PWK/PhJ	MGP_PWKPhJ_G0016793	protein coding gene	Chr10:96358758-96417419 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016582	protein coding gene	Chr10:98683251-98800857 (+)
WSB/EiJ	MGP_WSBEiJ_G0017071	protein coding gene	Chr10:99835474-99895796 (+)

Human Ortholog

ATP2B1, ATPase plasma membrane Ca2+ transporting 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATP2B1, ATPase plasma membrane Ca2+ transporting 1
Synonyms

MRD66, PMCA1, PMCA1kb
Links

HGNC:814

NCBI Gene ID: 490

UniProt: P20020
Chr Location

12q21.33; chr12:89588049-89709366 (-) GRCh38

MGI Vertebrate Homology

Atp2b1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ATP2B1
Gene Tree

Atp2b1

Diseases

1 with human ATP2B1 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 66 IDs autosomal dominant intellectual developmental disorder 66 DOID:0061039 OMIM:619910

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

28 phenotypes from 4 alleles in 4 genetic backgrounds
31 phenotypes from multigenic genotypes
1 images
37 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

4
Gene trapped

13
Targeted

7
Transgenic

1
Genomic Mutations

1 involving Atp2b1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

66 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. Cultured blastocysts form outgrowths with apparent inner cell mass but limited trophectoderm and primitive endoderm cells.

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All GO Annotations

83
GO References

22

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

912
Tissues

160
cDNA Data

22
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ATP2B1

Xenbase atp2b1

ZFIN atp2b1a

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All Sequences

99
RefSeq

16
UniProt

13
CCDS

CCDS24145.1

Ensembl

ENSMUSG00000019943 (Evidence)
NCBI Gene

67972

			Length	Strain/Species	Flank
genomic	ENSMUSG00000019943	Ensembl Gene Model \| MGI Sequence Detail	111738	C57BL/6J	± kb
transcript	ENSMUST00000020107	Ensembl \| MGI Sequence Detail	7130	Not Applicable
polypeptide	ENSMUSP00000020107	Ensembl \| MGI Sequence Detail	1220	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000004445 plasma membrane calcium-transporting ATPase 1

(term hierarchy)
EC

7.2.2.10, 7.2.2.8
InterPro Domains

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

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

IPR036412 HAD-like superfamily

IPR023214 HAD superfamily

IPR022141 Plasma membrane calcium transporting P-type ATPase, C-terminal

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

IPR006408 P-type ATPase, subfamily IIB

IPR023298 P-type ATPase, transmembrane domain superfamily
GlyGen

G5E829 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 30

Genomic 2

cDNA 24

Primer pair 4

Microarray probesets 5

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MGD-MRK-26093, MGI:1915222, MGI:2444822

Summaries

All 93

Developmental Gene Expression 15

Diseases 1

Gene Ontology 22

Phenotypes 37
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:355142 Gomez-Del Arco P, et al., The G4 resolvase Dhx36 modulates cardiomyocyte differentiation and ventricular conduction system development. Nat Commun. 2024 Oct 4;15(1):8602

TSS for Atp2b1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr95512	Chr10:98750275-98750280 (+)	10 bp
Tssr95513	Chr10:98750288-98750299 (+)	26 bp
Tssr95514	Chr10:98750423-98750438 (+)	163 bp
Tssr95515	Chr10:98750501-98750583 (+)	274 bp
Tssr95516	Chr10:98750979-98751034 (+)	739 bp
Tssr95517	Chr10:98751043-98751054 (+)	781 bp
Tssr95518	Chr10:98751971-98751989 (+)	1,712 bp
Tssr95519	Chr10:98753415-98753421 (+)	3,150 bp
Tssr95520	Chr10:98756439-98756445 (+)	6,174 bp
Tssr95521	Chr10:98756882-98756891 (+)	6,619 bp
Tssr95522	Chr10:98766998-98767007 (+)	16,735 bp
Tssr95523	Chr10:98781541-98781546 (+)	31,276 bp
Tssr95524	Chr10:98822797-98822824 (+)	72,543 bp
Tssr95525	Chr10:98822935-98822974 (+)	72,687 bp
Tssr95526	Chr10:98826359-98826374 (+)	76,099 bp
Tssr95527	Chr10:98830758-98830763 (+)	80,493 bp
Tssr95528	Chr10:98836649-98836685 (+)	86,399 bp
Tssr95529	Chr10:98845342-98845354 (+)	95,080 bp
Tssr95530	Chr10:98849142-98849150 (+)	98,878 bp
Tssr95531	Chr10:98849772-98849821 (+)	99,529 bp
Tssr95532	Chr10:98859270-98859290 (+)	109,012 bp
Tssr95533	Chr10:98859299-98859319 (+)	109,041 bp
Tssr95534	Chr10:98859537-98859549 (+)	109,275 bp
Tssr95535	Chr10:98861273-98861283 (+)	111,010 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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