Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp2a1provided by MGI
Official Full Name: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1provided by MGI
Primary source: MGI:MGI:105058
See related: Ensembl:ENSMUSG00000030730 AllianceGenome:MGI:105058
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: SERCA1
Summary: Enables calcium ion binding activity. Predicted to be involved in several processes, including calcium ion transport; cellular calcium ion homeostasis; and regulation of striated muscle contraction. Predicted to act upstream of or within calcium ion transport. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including diaphragm; forelimb mesenchyme; hindlimb; musculature; and testis. Human ortholog(s) of this gene implicated in Brody myopathy. Orthologous to human ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward mammary gland adult (RPKM 780.9) See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 69.04 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (126045032..126062245, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (126445858..126463103, complement)

Chromosome 7 - NC_000073.7 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?

SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Title: SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.
Title: Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.
Characterizing SERCA Function in Murine Skeletal Muscles after 35-37 Days of Spaceflight.
Title: Characterizing SERCA Function in Murine Skeletal Muscles after 35-37 Days of Spaceflight.
Functional maintenance of calcium store by ShcB adaptor protein in cerebellar Purkinje cells.
Title: Functional maintenance of calcium store by ShcB adaptor protein in cerebellar Purkinje cells.
it may be profoundly antiarrhythmic. This may be clinically relevant when therapies are applied to stimulate the SERCA activity (e.g. SERCA overexpression with gene therapy, future small molecule SERCA stimulators).
Title: Stabilization of Ca(2+) signaling in cardiac muscle by stimulation of SERCA.
Our results indicate that the phospholipid headgroup PC:PE negatively correlated and could potentially contribute to reductions in SERCA activity seen in functionally overloaded plantaris.
Title: Elevated whole muscle phosphatidylcholine: phosphatidylethanolamine ratio coincides with reduced SERCA activity in murine overloaded plantaris muscles.
CAPN3 deficiency leads to degradation of SERCA proteins and Ca2+ dysregulation in the skeletal muscle.
Title: Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Ebf3 binds directly to the promoter of Atp2a1 and synergises with MyoD in the induction of Atp2a1
Title: Ebf factors and MyoD cooperate to regulate muscle relaxation via Atp2a1.
Formalin evokes calcium transients from the endoplasmatic reticulum via SERCA1-dependent, TRPA1-independent mechanism that may underlie formaldehyde-induced pan-neuronal excitation and subsequent inflammation.
Title: Formalin evokes calcium transients from the endoplasmatic reticulum.
SERCA1b is considered to play an essential role in the regulation of [Ca2+]i and its ab ovo gene silencing results in decreased skeletal muscle differentiation.
Title: The Effect of SERCA1b Silencing on the Differentiation and Calcium Homeostasis of C2C12 Skeletal Muscle Cells.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI462746 (e-PCR)
- UniSTS:164365

BB259371 (e-PCR)
- UniSTS:208204

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables P-type calcium transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type calcium transporter activity	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent ATPase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables nucleotide-sugar transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic mitochondrial changes	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in maintenance of mitochondrion location	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endoplasmic reticulum calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of striated muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endoplasmic reticulum calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fast-twitch skeletal muscle fiber contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial calcium ion concentration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in regulation of striated muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in relaxation of skeletal muscle	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in response to peptide hormone	ISO Inferred from Sequence Orthology more info
involved_in sarcoplasmic reticulum calcium ion transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in H zone	ISO Inferred from Sequence Orthology more info
located_in I band	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Names: SR Ca(2+)-ATPase 1; calcium pump 1; endoplasmic reticulum class 1/2 Ca(2+) ATPase

NP_031530.2

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_007504.2 → NP_031530.2 sarcoplasmic/endoplasmic reticulum calcium ATPase 1

See identical proteins and their annotated locations for NP_031530.2

Status: VALIDATED

Source sequence(s)

BC036292

Consensus CDS

CCDS40125.1

UniProtKB/Swiss-Prot

Q8R429

Related

ENSMUSP00000032974.7, ENSMUST00000032974.13

Conserved Domains (1) summary

cd02083
Location:5 → 989

P-type_ATPase_SERCA; sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3