Atp2b1 ATPase, Ca++ transporting, plasma membrane 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp2b1provided by MGI
Official Full Name: ATPase, Ca++ transporting, plasma membrane 1provided by MGI
Primary source: MGI:MGI:104653
See related: Ensembl:ENSMUSG00000019943 AllianceGenome:MGI:104653
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pmca1; 2810442I22Rik; E130111D10Rik
Summary: Predicted to enable several functions, including ATP hydrolysis activity; P-type calcium transporter activity; and PDZ domain binding activity. Involved in several processes, including positive regulation of bone mineralization; regulation of cytosolic calcium ion concentration; and regulation of vascular associated smooth muscle contraction. Located in basolateral plasma membrane; immunological synapse; and synaptic vesicle membrane. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study frontotemporal dementia and frontotemporal dementia and/or amyotrophic lateral sclerosis 7. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder. Orthologous to human ATP2B1 (ATPase plasma membrane Ca2+ transporting 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in frontal lobe adult (RPKM 30.2), cortex adult (RPKM 27.6) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 50.97 cM; 10 C3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (98750243..98862005)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (98914630..99026143)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lack of ATP2B1 in CD4+ T Cells Causes Colitis.
Title: Lack of ATP2B1 in CD4+ T Cells Causes Colitis.
Ca[2+] Homeostasis by Plasma Membrane Ca[2+] ATPase (PMCA) 1 Is Essential for the Development of DP Thymocytes.
Title: Ca(2+) Homeostasis by Plasma Membrane Ca(2+) ATPase (PMCA) 1 Is Essential for the Development of DP Thymocytes.
Cardiomyocyte-specific loss of plasma membrane calcium ATPase 1 impacts cardiac rhythm and is associated with ventricular repolarisation dysfunction.
Title: Cardiomyocyte-specific loss of plasma membrane calcium ATPase 1 impacts cardiac rhythm and is associated with ventricular repolarisation dysfunction.
Plasma Membrane Calcium ATPase-Neuroplastin Complexes Are Selectively Stabilized in GM1-Containing Lipid Rafts.
Title: Plasma Membrane Calcium ATPase-Neuroplastin Complexes Are Selectively Stabilized in GM1-Containing Lipid Rafts.
Plasma membrane Ca(2+) ATPase 1 (PMCA1) but not PMCA4 is critical for B-cell development and Ca(2+) homeostasis in mice.
Title: Plasma membrane Ca(2+) ATPase 1 (PMCA1) but not PMCA4 is critical for B-cell development and Ca(2+) homeostasis in mice.
Silencing of ATP2B1-AS1 contributes to protection against myocardial infarction in mouse via blocking NFKBIA-mediated NF-kappaB signalling pathway.
Title: Silencing of ATP2B1-AS1 contributes to protection against myocardial infarction in mouse via blocking NFKBIA-mediated NF-κB signalling pathway.
The ATP2B1 gene is important for not only intra-cellular calcium regulation but also for calcium homeostasis and blood pressure control.
Title: Reduced secretion of parathyroid hormone and hypocalcemia in systemic heterozygous ATP2B1-null hypertensive mice.
increased intracellular calcium concentration in vascular smooth muscle cells due to lack of ATP2B1 and subsequent activation of L-type calcium channels mainly affects blood pressure and suggests increased susceptibility to calcium channel blockers
Title: The effects of anti-hypertensive drugs and the mechanism of hypertension in vascular smooth muscle cell-specific ATP2B1 knockout mice.
These results suggest that renal PMCA1 has a role as one of the molecules involved in angiotensin II-induced hypertension and kidney injury.
Title: Enhancement of intrarenal plasma membrane calcium pump isoform 1 expression in chronic angiotensin II-infused mice.
PMCA1 is required for maintaining atrial Ca(2+) homeostasis and electrical stability.
Title: Plasma membrane Ca(2+) -ATPase 1 is required for maintaining atrial Ca(2+) homeostasis and electrophysiological stability in the mouse.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (7) 1 citation
Transgenic (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp2b1 (e-PCR), detects polymorphism
- UniSTS:546670

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables P-type calcium transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type calcium transporter activity	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables calcium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular function inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion export	ISO Inferred from Sequence Orthology more info
involved_in calcium ion export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in calcium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in regulation of vascular associated smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in dendrite membrane	ISO Inferred from Sequence Orthology more info
located_in dendritic spine membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: plasma membrane calcium-transporting ATPase 1

Names: plasma membrane calcium ATPase; plasma membrane calcium pump

NP_001346435.1

EC 7.2.2.10

NP_001346436.1

EC 7.2.2.10

NP_001346437.1

EC 7.2.2.10

NP_001346438.1

EC 7.2.2.10

NP_080758.1

EC 7.2.2.10

XP_011241850.1

EC 7.2.2.10

XP_011241851.1

EC 7.2.2.10

XP_030101104.1

EC 7.2.2.10

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_001359506.1 → NP_001346435.1 plasma membrane calcium-transporting ATPase 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC153906, AC160410, AI892140, AK133920, BI732378, BQ176881, CF750345, CJ128577, CJ321142, CK393435, CK624413, CN691756, CV559947

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1178

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
NM_001359507.1 → NP_001346436.1 plasma membrane calcium-transporting ATPase 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC153906, AC160410, AI892140, AK133920, BI732378, BQ176881, CF750345, CJ321142, CK393435, CK624413, CN691756, CV559947

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1142

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
NM_001359508.1 → NP_001346437.1 plasma membrane calcium-transporting ATPase 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC153906, AC160410, AI892140, AK133920, BI732378, BQ176881, CF750345, CJ128577, CJ321142, CK393435, CK624413, CN691756, CV559947

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1142

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
NM_001359509.1 → NP_001346438.1 plasma membrane calcium-transporting ATPase 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC153906, AC160410, AI892140, AK133920, BI732378, BQ176881, CF750345, CJ128577, CJ321142, CK393435, CK624413, CN691756, CV559947

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1142

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
NM_026482.2 → NP_080758.1 plasma membrane calcium-transporting ATPase 1 isoform 2

See identical proteins and their annotated locations for NP_080758.1

Status: VALIDATED

Source sequence(s)

AC153906, AC160410, AI892140, AK133920, BC030901, CJ321142

Consensus CDS

CCDS24145.1

UniProtKB/Swiss-Prot

G5E829

Related

ENSMUSP00000020107.8, ENSMUST00000020107.8

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1149

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

98750243..98862005

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011243549.4 → XP_011241851.1 plasma membrane calcium-transporting ATPase 1 isoform X2

See identical proteins and their annotated locations for XP_011241851.1

UniProtKB/Swiss-Prot

G5E829

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1149

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
XM_011243548.4 → XP_011241850.1 plasma membrane calcium-transporting ATPase 1 isoform X1

See identical proteins and their annotated locations for XP_011241850.1

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1178

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
XM_030245244.1 → XP_030101104.1 plasma membrane calcium-transporting ATPase 1 isoform X1

Conserved Domains (2) summary

TIGR01517
Location:15 → 1064

ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase

pfam12424
Location:1103 → 1178

ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal